Chiari Malformation

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[Hemangiomas and vascular malformations of the head and neck].

PubMed

Hassmann-Poznańska, Elibieta; Kurzyna, Agnieszka

2006-01-01

This paper presents the review of current knowledge regarding vascular lesions of the head and neck. For many years the term hemangioma was used to describe all vascular lesions. Mulliken and Glowacki classified congenital vascular lesions and recognized two distinct entities, hemangiomas-vascular tumors and vascular malformations. Hemangiomas are usually not present at birth, proliferate during first year of life and then involute. They are composed of proliferating endothelial cells. Vascular malformations are always present at birth although not always apparent, increase slowly in size throughout whole life and never involute. They enlarge by hypertrophy of malformed vessels. Vascular malformations can be further subdivided according to the type of involved vessels as arterial, arteriovenous, venous, capillary or lymphatic. Accurate diagnosis of hemangiomas and vascular malformations remains a challenge for physicians. Although majority of hemangiomas are self limiting lesions some of them may develop complications such as; ulceration, airway obstruction, ophthalmic complications, psychosocial consequences. Segmental hemangiomas are associated with the risk of structural anomalies such as those that occur in PHACE syndrome. Clinical presentation and forms of treatment of various forms of vascular malformations are presented. Vascular malformations have to be treated according to their histopathology and location, as well as their hemodynamic features shown by radiological examinations.

The impact of congenital cardiovascular malformations on the assessment and surgical management of infants with cleft lip and/or palate.

PubMed

Harry, Brian L; TeBockhorst, Seth; Deleyiannis, Frederic W-B

2013-05-01

The purpose of this study was to assess the cardiac evaluation of cleft lip and/or palate patients, characterize their cardiovascular malformations, and determine the impact of cardiovascular malformations on surgical management. A single-institution retrospective study of 329 consecutive cleft patients was performed. Cardiovascular malformations were categorized according to involvement of cardiac septa, vasculature, and valves. Their impact on the need for cardiac surgery, timing of cleft repair, need for subacute bacterial endocarditis (SBE) prophylaxis, and the perioperative experience was evaluated. Ten percent (33/329) of cleft patients had a cardiovascular malformation, and 3% underwent cardiac surgery prior to cleft repair. Malformations of the septa, vasculature, and valves were present in 9%, 6%, and 2% of cleft infants, respectively. Murmur as a sign of structural cardiovascular disease was 79% sensitive and 97% specific. Cleft palate repair was delayed by 2 months in patients with a cardiovascular malformation (P = .001). Subacute bacterial endocarditis prophylaxis was recommended, not recommended, or not specified by cardiology in 18%, 33%, and 48% of cleft patients with a cardiovascular malformation, respectively. Postoperative stay and surgical complications were not associated with cardiovascular malformation. Even in the absence of a murmur, echocardiographic screening should be considered in infants with nonspecific signs of cardiovascular disease. Greater awareness of the guidelines for SBE prophylaxis is needed. Most cleft patients with a cardiovascular malformation do not require cardiac surgery and do not experience an increased rate of complications associated with cleft surgery.

Unusual leg malformations in screech owls from a South Carolina Superfund site

USGS Publications Warehouse

Albers, P.H.; Hoffman, D.J.; Brisbin, I.L.

2001-01-01

In 1995, the discovery of leg malformations in several screech owl (Otis asio) nestlings and in their female parent at a Department of Energy (DOE) Superfund site in South Carolina prompted an investigation into the nature of the observed abnormalities. Surviving nestlings and the female parent were transferred to a captive screech owl breeding colony at the USGS Patuxent Wildlife Research Center, Laurel, MD. The malformed female parent and her offspring were each mated with normal owls from the colony for 3 yr. Matings of the malformed female produced five malformed and six normal owls; all owls produced by matings of normal offspring were normal. Malformed offspring were euthanized when it became apparent that their physical distress precluded survival under normal conditions of colony care. Euthanized owls were necropsied and examined for skeletal development. Detailed descriptions of eight malformed owls are presented. Results of the matings indicated that the leg malformations were caused by a genetic trait in the female parent that was heterozygous dominant. The characteristic was lethal except in occasional mild manifestations and resembled an extreme form of a dominant abnormality previously described for domestic fowl called duplicate polydactyly. Other reports of skeletal abnormalities in wild birds and potential environmental causes of genetic mutations at the DOE Super-fund site are presented. Other studies performed at the DOE Superfund site do not implicate elevated (above background) ionizing radiation from '37Cs, the dominant radio-nuclide where the owls were captured, as the cause of the mutation. The cause of this genetic abnormality remains unknown.

Life-threatening haemothorax: a rare presentation of pulmonary arteriovenous malformation.

PubMed

Kundu, Somenath; Mitra, Subhra; Mukherjee, Shubhasis; Chakravorty, Anushree

2010-11-01

Arteriovenous malformations of the lung are rare pulmonary vascular disorders which can suddenly lead to life threatening complications. Haemothorax due to rupture of a pulmonary arteriovenous malformation (PAVM) is very rare. We report here a case of a 39 year-old lady who presented with an acute onset of shortness of breath due to right-sided massive haemothorax and was subsequently detected to have pulmonary as well as cerebral arteriovenous malformation (CAVM).

Comparison of Porcine and Bovine Collagen Dural Substitutes in Posterior Fossa Decompression for Chiari I Malformation in Adults.

PubMed

Lee, Christine K; Mokhtari, Tara; Connolly, Ian D; Li, Gordon; Shuer, Lawrence M; Chang, Steven D; Steinberg, Gary K; Hayden Gephart, Melanie

2017-12-01

Posterior fossa decompression surgeries for Chiari malformations are susceptible to postoperative complications such as pseudomeningocele, external cerebrospinal fluid (CSF) leak, and meningitis. Various dural substitutes have been used to improve surgical outcomes. This study examined whether the collagen matrix dural substitute type correlated with the incidence of postoperative complications after posterior fossa decompression in adult patients with Chiari I malformations. A retrospective cohort study was conducted of 81 adult patients who underwent an elective decompressive surgery for treatment of symptomatic Chiari I malformations, with duraplasty involving a dural substitute derived from either bovine or porcine collagen matrix. Demographics and treatment characteristics were correlated with surgical outcomes. A total of 81 patients were included in the study. Compared with bovine dural substitute, porcine dural substitute was associated with a significantly higher risk of pseudomeningocele occurrence (odds ratio, 5.78; 95% confidence interval, 1.65-27.15; P = 0.01) and a higher overall complication rate (odds ratio, 3.70; 95% confidence interval, 1.23-12.71; P = 0.03) by univariate analysis. There was no significant difference in the rate of meningitis, repeat operations, or overall complication rate between the 2 dural substitutes. In addition, estimated blood loss was a significant risk factor for meningitis (P = 0.03). Multivariate analyses again showed that porcine dural substitute was associated with pseudomeningocele occurrence, although the association with higher overall complication rate did not reach significance. Dural substitutes generated from porcine collagen, compared with those from bovine collagen, were associated with a higher likelihood of pseudomeningocele development in adult patients undergoing Chiari I malformation decompression and duraplasty. Copyright © 2017 Elsevier Inc. All rights reserved.

Congenital extrahepatic portosystemic shunt complicated by the development of hepatocellular carcinoma.

PubMed

Sharma, Ruchi; Suddle, Abid; Quaglia, Alberto; Peddu, Praveen; Karani, John; Satyadas, Thomas; Heaton, Nigel

2015-10-01

Congenital extrahepatic portosystemic shunt, also known as Abernethy malformation, is a rare congenital malformation. It causes shunting of blood through a communication between the portal and systemic veins such as a patent ductus venous. We report 3 cases of Abernethy malformation complicated by the development of hepatocellular carcinoma. Additionally, we comprehensively reviewed all previously reported cases and highlighted common features that may help in early diagnosis and appropriate management. Patients with Abernethy malformation may have an increased propensity to develop hepatocellular carcinoma. All 5 previously reported cases, plus the three of our patients, have a type 1 (complete) shunt suggesting a role for absent portal blood flow in the pathogenesis of hepatocellular carcinoma. Congenital extrahepatic portosystemic shunt should be sought for in cases with raised serum ammonia, hepatic encephalopathy or hepatocellular carcinoma in the absence of cirrhosis.

Fifteen years of experience in the treatment of anorectal malformations.

PubMed

Julià, Victoria; Tarrado, Xavier; Prat, Jordi; Saura, Laura; Montaner, Albert; Castañón, Montserrrat; Ribó, Josep Maria

2010-02-01

To analyze our experience in the treatment of anorectal malformations (ARM) with the posterior sagittal anorectoplasty (PSARP), and our modifications through the last few years and the outcomes. We reviewed 107 cases divided into two groups: Former (F: 1994-2003) and Recent (R: 2004-2008). Type of ARM, associated anomalies, management and complications were noted. A telephone questionnaire regarding continence outcome was addressed to the 74 cases older than 3 years. According to the type of ARM, there were 53 perineal fistulas, 2 anal stenoses, 11 no fistulas, 12 rectourethral fistulas (5 rectobulbar and 7 rectoprostatic fistulas), 22 vestibular fistulas, 1 rectovesical fistulas and 6 cloacas. A total of 47 patients presented with 73 associated malformations. As much as 45 colostomies were performed, including 5 perineal fístulas, with 6 of 7 vestibular fístulas in group F and only 8 of 15 in group R. We had 19 complications of PSARP. The most frequent one was rectal mucosa prolapse in 14 (12F and 2R) and 2 wound infections (F). Continence was good in 62, poor in 3 and fair in 5. Seven out of eight children with poor or fair continence had associated malformations. All perineal fístulas can be managed without colostomy. Vestibular fístulas can be safely treated without colostomy in otherwise healthy patients without severe malformations. Overall, continence is good, and fair/poor results are related to associated malformations. Cumulative experience helps avoid colostomies and reduce complication and reoperation rates.

Foramen magnum decompression for Chiari I malformation: a procedure not to be underestimated.

PubMed

Duddy, John Charles; Allcutt, David; Crimmins, Darach; O'Brien, David; O'Brien, Donncha Finbarr; Rawluk, Daniel; Sattar, Mohammed Taufiq; Young, Steven; Caird, John

2014-06-01

Chiari I malformation may be treated with foramen magnum decompression (FMD). We aim to describe the symptoms with which patients initially present, and to determine the number and type of complications occurring after FMD for Chiari I malformation. Retrospective review of medical records for patients who had FMD performed for Chiari I malformation between January 2009 and December 2011. Post-operative outcomes were recorded and analysed. Patient demographic details and other relevant medical conditions were also noted. Between January 2009 and December 2011, 54 FMDs were performed for Chiari I malformation. Among them, 40(74%) patients were female and 14 patients (26%) were male. The majority of patients (42.6%) were aged 16-39 years and 24.07% of patients were children aged < 16 years. A total of 30(55.6%) patients had documented evidence of a syrinx pre-operatively. 18(33.3%) patients developed complications. Nine of these developed multiple complications while nine had a single problem. One mortality was reported. Ten (18.5%) patients developed hydrocephalus requiring shunting. Two patients developed subdural collections requiring evacuation associated with hydrocephalus. Six (11.1%) patients developed post-operative infections: two CNS infections; one wound infection; and three other infections. FMD for Chiari I malformation is a procedure which carries risk. In particular, the risk of developing post-operative hydrocephalus requiring permanent shunting is relatively high. ICP monitoring prior to FMD may be required to definitively rule out raised intracranial pressure.

Obstetric outcome of women with uterine anomalies in China.

PubMed

Zhang, Yan; Zhao, Yang-yu; Qiao, Jie

2010-02-20

Congenital uterine anomalies are associated with the highest incidence of reproductive failure and obstetric complications. This study aimed to summarize the clinical characteristics and prenatal outcome of pregnancy in women with congenital uterine malformations. This retrospective study evaluated the fertility and obstetric outcome of 116 inpatients with uterine malformations with pregnancy in Peking University Third Hospital from June 1998 to June 2009. A total of 270 randomly selected pregnant women with a previously confirmed normally shaped uterus as a control group. Student's t test and analysis of variance (ANOVA) were used to compare means for normally distributed variables. The analysis was carried out using the SPSS. Among 21 961 deliveries in Peking University Third Hospital, 116 (0.45%) were in women with uterine anomalies. A septate uterus was present in 43 (37.1%) and the uterus didelphys in 28 (24.2%) of the 116 women identified. Bicornuate uterus, arcuate and unicomate uterus were observed in 12 (10.3%), 18 (15.5%) and 15 (12.9%) patients, respectively. Patients with uterine anomalies had significantly higher rates of malpresentation (38.8%), preterm delivery (19.8%), and cesarean section (78.5%) compared with the group of women with a normal uterus. Patients with uterine anomalies had significantly lower mean birth-weight neonates and a significantly higher incidence of small for gestationalage (SGA) neonates; women with uterus didelphys more frequently required infertility treatment than patients with other uterine anomalies (P < 0.001). The rate of malpresentation was significantly higher in patients with septated uterus in comparison with patients with uterus unicorns (P < 0.05). Women with congenital uterinemal formation usually have higher incidence of complications during pregnancy and delivery. A septate uterus appears to be associated with poorer obstetric outcomes.

Acquired Uterine Arteriovenous Malformation and Retained Placenta Increta.

PubMed

Roach, Michelle K; Thomassee, May S

2015-09-01

Uterine arteriovenous malformations are rare and have been reported to occur after uterine trauma (eg, surgery, gestational trophoblastic disease, malignancy). A 33-year-old woman, gravida 3 para 3, presented 4 weeks post-cesarean delivery with episodic profuse vaginal bleeding. Pelvic ultrasonography and magnetic resonance imaging revealed a left uterine arteriovenous malformation. After consideration of all treatment options, total laparoscopic hysterectomy was performed. Acquired uterine arteriovenous malformations and placental ingrowth into the myometrium are increasingly reported after surgical uterine procedures. This case of a postpartum patient with both uterine arteriovenous malformation and retained placenta increta suggests a correlation between the two complications.

Hereditary hemorrhagic telangiectasia patient presenting with brain abscess due to silent pulmonary arteriovenous malformation.

PubMed

Themistocleous, Marios; Giakoumettis, Dimitrios; Mitsios, Andreas; Anagnostopoulos, Christos; Kalyvas, Aristoteles; Koutsarnakis, Christos

2016-01-01

Hereditary hemorrhagic telangiectasia is a rare autosomal dominant inherited disease that is usually complicated by visceral vascular malformations. Patients harboring such malformations are at increased risk of brain abscess formation, which despite advances in diagnostic and surgical methods remains a life threatening medical emergency with high mortality and morbidity rates. In the present report we describe a case of cerebral abscess due to silent pulmonary arteriovenous malformation (AVM) in a young patient previously undiagnosed for hereditary hemorrhagic telangiectasia syndrome (HHT).

Chiari malformation, syringomyelia and bulbar palsy in X linked hypophosphataemia

PubMed Central

Watts, Laura; Wordsworth, Paul

2015-01-01

X linked hypophosphataemia (XLH) is a rare condition with numerous musculoskeletal complications. It may mimic other more familiar conditions, such as vitamin D deficiency, ankylosing spondylitis or diffuse idiopathic skeletal hyperostosis. We describe two cases with Chiari type 1 malformations and syringomyelia, neither of which is well recognised in XLH. The first presented late with the additional complications of spinal cord compression, pseudofracture, renal stones and gross femoroacetabular impingement requiring hip replacement. The second also had bulbar palsy; the first case to be described in this condition, to the best of our knowledge. We wish to raise awareness of the important neurological complications of syringomyelia, Chiari malformation, spinal cord compression and bulbar palsy when treating these patients. We also wish to draw attention to the utility of family history and genetic testing when making the diagnosis of this rare but potentially treatable condition. PMID:26561226

Chiari malformation, syringomyelia and bulbar palsy in X linked hypophosphataemia.

PubMed

Watts, Laura; Wordsworth, Paul

2015-11-11

X linked hypophosphataemia (XLH) is a rare condition with numerous musculoskeletal complications. It may mimic other more familiar conditions, such as vitamin D deficiency, ankylosing spondylitis or diffuse idiopathic skeletal hyperostosis. We describe two cases with Chiari type 1 malformations and syringomyelia, neither of which is well recognised in XLH. The first presented late with the additional complications of spinal cord compression, pseudofracture, renal stones and gross femoroacetabular impingement requiring hip replacement. The second also had bulbar palsy; the first case to be described in this condition, to the best of our knowledge. We wish to raise awareness of the important neurological complications of syringomyelia, Chiari malformation, spinal cord compression and bulbar palsy when treating these patients. We also wish to draw attention to the utility of family history and genetic testing when making the diagnosis of this rare but potentially treatable condition. 2015 BMJ Publishing Group Ltd.

Bladder Mucosal Graft Vaginoplasty: A Case Report.

PubMed

Chiaramonte, Cinzia; Vestri, Elettra; Tripi, Flavia; Giannone, Antonino Giulio; Cimador, Marcello; Cataliotti, Ferdinando

2018-06-18

Female vaginoplasty reconstruction, by choice, is usually performed with adjacent tissue. However in some clinical conditions such as high urogenital confluence sinus, cloacal malformation with extreme vaginal hypoplasia, local tissue may not be available. When vaginal replacement is performed in pediatric patients intestinal segments is preferred to non-operative procedures that require continuative dilations. However mucus production, malignant transformation risk and diversion colitis are important side effects. We present a nouvel technique for vaginoplasty in a female child presenting with an isolated urogenital sinus malformation without virilization. The patient at 20 months underwent vaginoplasty using tubularized bladder mucosal graft. Surgical procedure was devoid of complications. Pubertal development occurred at age of 15. She underwent regular follow up until 18 years of age. At this age we performed clinical evaluation: absence of vaginal introitus stenosis and good cosmetic results were observed. Then she underwent vaginoscopy with multiple biopsies. Pathology examination of the bladder mucosal graft evidenced a normal structure of the mucosa, with a stratified squamous epithelium. Different techniques are taken into account for vaginal reconstruction according to the severity and to the type of malformation. We describe the use of bladder mucosal graft with favorable results after long term follow-up. Copyright © 2018. Published by Elsevier Inc.

Vascular anomalies and the growth of limbs: a review.

PubMed

Enjolras, Odile; Chapot, René; Merland, Jean Jacques

2004-11-01

Growth of the limb in a child can be impaired, with the coexistence of a vascular malformation. In these vascular bone syndromes, altered growth is manifest as overgrowth or hypotrophy. The vascular malformation is usually complex and gets progressively worse with time. The two types of vascular anomalies in limbs, fast-flow and slow-flow, can be associated with limb length discrepancies. The fast-flow vascular malformations together with arteriovenous fistulae are part of Parkes Weber syndrome, characterized by congenital red cutaneous staining, hypertrophy in girth and increasing of limb length, lymphedema, increasing skin alterations due to a distal vascular steal, and pain, all of which develop during childhood. Treatment is generally conservative. An affected lower extremity can be complicated by pelvic tilting and scoliosis because leg length discrepancy may reach 10 cm. To avoid such a course, stapling epiphysiodesis of the knee cartilages is often performed, but this orthopedic procedure may augment the worsening of the arterial venous malformation in the limb. Therefore, less aggressive orthopedic management is preferable. Slow-flow vascular anomalies associated with limb growth alteration include (1) a diffuse capillary malformation (port-wine stain) with congenital hypertrophy of the involved extremity which is non-progressive; (2) purely venous malformations invading skin, muscles and joints, with pain, functional impairment, a chronic localized intravascular coagulopathy requiring distinctive management, and usually a slight undergrowth of the affected extremity and progressing amyotrophy; (3) the triad of a port-wine stain, anomalous veins and overgrowth of the limb, often known as Klippel-Trenaunay syndrome, which requires orthopedic management to decide the optimal timing for epiphysiodesis (i.e. when leg length discrepancy is >2.5 cm). Varicose veins are sometimes surgically removed after ultrasonographic and Doppler evaluation has confirmed a normal deep venous system. Capillary malformations can be effectively treated with pulsed dye laser, but results are usually poor in distal extremities.

[Characteristics of pregnancy and delivery of fetuses affected by either central nervous system malformations or chromosomal abnormalities].

PubMed

Friedler, Jordana Mashiach; Mazor, Moshe; Shoham-Vardi, Ilana; Bashiri, Asher

2011-11-01

To determine whether fetuses affected by either chromosomal abnormalities or central nervous system (CNS) malformations are prone to complications during pregnancy and delivery. In this study, 320 singleton pregnancies with CNS malformations and 133 singleton pregnancies with chromosomal abnormaLities were compared with 149,112 singleton births without any known congenital anomalies. Exclusion criteria were: births with other congenital anomalies or malformations, pregnancies Lacking prenatal care and multiple pregnancies. Data was obtained using the computerized birth discharge records. The statistical analysis was performed with the SPSS package. There were no statistically significant differences in maternal age, ethnicity, uterine anomalies or parity. The ratio of general anesthesia was almost double in the study groups compared to the control group: 25% in the CNS malformation group (RR 2.617, CI 2.031-3.372) and 25.6% in the chromosomal abnormality group (RR 2.696, CI 1.825-3.982) and 11.3% in the control group (p < 0.001). There were nearly double cesarean sections (CS) rates in both study groups: 21.5% in the CNS malformation group, 20.3% in the chromosomal abnormaLity group and 12% in the control group. A logistic regression model that included previous CS, maLpresentation, non-reassuring fetal heart monitor (NRFHR) and presence of a malformation, concluded that the presence of a malformation was not an independent risk factor for CS. However, indirect causes, such as malpresentation (4.34 OR), were independently associated with the malformations. Fetuses affected by either CNS malformations or chromosomal abnormalities have a higher rate of pregnancy and delivery complications, including those which increase the risk of maternal morbidity and mortality.

The effect of flurbiprofen on the development of anencephaly in early stage chicken embryos.

PubMed

Özeren, Ersin; Er, Uygur; Güvenç, Yahya; Demirci, Adnan; Arıkök, Ata Türker; Şenveli, Engin; Ergün, Rüçhan Behzat

2015-04-01

The study investigated the effect of flurbiprofen on the development of anencephaly in early stage chicken embryos. We looked at four groups with a total of 36 embryos. There was a control group, a normal saline group, a normal-dose group and a high-dose group with ten, ten, eight and eight eggs with embryo respectively. Two embryos in the control group, studied with light microscopy at 48 h, were consistent with 28-29 hours' incubation in the Hamburger-Hamilton System. They had open neural tubes. The other embryos in this group were considered normal. One embryo in the normal saline group was on the occlusion stage at 48 h. One embryo showed an open neural tube. They were compatible with 28-29 hours' incubation in the Hamburger-Hamilton system. The remaining eight embryos showed normal development. In the normal dose group, one embryo showed underdevelopment of the embryonic disc and the embryo was dead. In four embryos, the neural tubes were open. One cranial malformation was found that was complicated with anencephaly in one embryo. In two embryos the neural tubes were closed, as they showed normal development, and they reached their expected stages according to the Hamburger-Hamilton classification. There was no malformation or growth retardation. Four experimental embryos were anencephalic in the high dose group, and three embryos had open neural tubes. One embryo exhibited both anencephaly and a neural tube closure defect. None of the embryos in this group showed normal development. Even the usual therapeutic doses of flurbiprofen increased the risk of neural tube defect. Flurbiprofen was found to significantly increase the risk of anencephaly. The provision of improved technical materials and studies with larger sample sizes will reveal the stage of morphological disruption during the development of embryos.

Different protein profile in amniotic fluid with nervous system malformations by surface-enhanced laser desorption-ionization/time-of-flight mass spectrometry (SELDI-TOF-MS) technology.

PubMed

Ma, Zhe; Liu, Cun; Deng, Biping; Dong, Shaogang; Tao, Guowei; Zhan, Xinfeng; Wang, Chuner; Liu, Shaoping; Qu, Xun

2010-12-01

To detect the distinct proteins in amniotic fluid (AF) between nervous system malformations fetuses and normal fetuses. Surface-enhanced laser desorption-ionization/time-of-flight mass spectrometry was used to characterize AF peptides in AF between nervous system malformations fetuses and normal fetuses. WCX2 protein chips were used to characterize AF peptides in AF. Protein chips were examined in a PBSIIC protein reader, the protein profiling was collected by ProteinChip software version 3.1 (Ciphergen Biosystems, Fremont, CA, USA) and analyzed by Biomarker Wizard software (Ciphergen Biosystems). Nine distinct proteins were identified in AF between nervous system malformations fetuses and normal fetuses. Compared with the control group, three proteins with m/z 4967.5 Da, 5258.0 Da, and 11,717.0 Da were down-regulated, and six proteins with m/z 2540.4 Da, 3107.1 Da, 3396.8 Da, 4590.965 Da, 5589.2 Da and 6429.4 Da up-regulated in nervous system malformations fetuses. The results suggest that there are distinct proteins in protein profiling of AF between nervous system malformations fetuses and normal fetuses. © 2010 The Authors. Journal of Obstetrics and Gynaecology Research © 2010 Japan Society of Obstetrics and Gynecology.

Prospective long-term follow up of children with anorectal malformation: growth and development until 5years of age.

PubMed

van den Hondel, Desiree; Sloots, Cornelius E J; Gischler, Saskia J; Meeussen, Conny J H M; Wijnen, Rene M H; IJsselstijn, Hanneke

2013-04-01

To evaluate growth and development in children with anorectal malformations and to analyze effects of type of malformation and comorbidities. Non-syndromal children with anorectal malformations were prospectively evaluated at 0.5, 1, 2, and 5 years. Biometrics were obtained at all visits. Mental and psychomotor function development was determined. 108 children (59% male) were included. 49% had a high malformation, and 46% had ≥ 1 additional major comorbidity. All growth parameters were below the norm at all ages (p<0.01), irrespective of type of malformation. Children with ≥ 1 additional major anomaly had lower height at all ages; at 5 years, mean (95% CI) height was -1.83 (-2.7 to -1.1) and -0.70 (-1.3 to -0.1) in children with and without comorbidities, respectively (p=0.019). Mental development was normal, irrespective of the type of malformation or comorbidities. Motor development was delayed at all ages. At 5 years, motor development (n=30) was normal in 70%, borderline in 23%, and 7% had definitive motor problems (p=0.043). Non-syndromal children with anorectal malformations are at risk for growth impairment, especially those with additional major comorbidity. Mental development is normal. Motor development is slightly impaired. Supportive care should focus on growth, dietary management, and motor development besides defecation problems. Copyright © 2013 Elsevier Inc. All rights reserved.

Cerebrospinal fluid leakage and Chiari I malformation with Gorham's disease of the skull base: A case report.

PubMed

Nagashima, Hiroaki; Mizukawa, Katsu; Taniguchi, Masaaki; Yamamoto, Yusuke; Kohmura, Eiji

Gorham's syndrome is a rare bone disorder characterized by massive osteolysis of unknown etiology. There are no reports of comorbidity involving cerebrospinal fluid (CSF) leakage and Chiari I malformation with Gorham's syndrome. Here, we report an unusual case of an acute presyrinx state complicated by bacterial meningitis due to CSF leakage and Chiari I malformation associated with Gorham's disease of the skull base. A 25-year-old woman with Chiari I malformation associated with Gorham's syndrome presented with aggressive paresthesia following bacterial meningitis. Axial magnetic resonance imaging (MRI) and computed tomography (CT) cisternography revealed CSF leakage in the right petrous apex. A presyrinx state was diagnosed based on the clinical symptoms and MRI findings. With resolution of the bacterial meningitis, the spinal edema and tonsillar ectopia also improved. Surgical repair of the CSF leakage was performed by an endoscopic endonasal transsphenoidal approach to prevent recurrence of meningitis. The postoperative course was uneventful. Skull base osteolysis in Gorham's syndrome may induce Chiari I malformation and CSF leakage. We should pay attention to acute progression of clinical symptoms because Gorham's syndrome may predispose to development of Chiari I malformation and may be complicated by CSF leakage. Copyright © 2017 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

[Cerebrovenous orthostatic reactivity in pathology of the craniovertebral junction (Chiari malformation)].

PubMed

Shakhnovich, V A; Mitrofanova, E V; Shimanskiy, V N; Konovalov, N A; Shkarubo, A N

2015-01-01

Chiari malformation is characterized by herniation of the cerebellar tonsils into the foramen magnum, which leads to disturbance of CSF circulation through the craniovertebral junction. Orthostatic stress, which leads to the movement of SCF through the craniovertebral junction, is an adequate method to detect these disorders. It is accompanied by changes in the intracranial pressure, affecting the cerebrovenous orthostatic reactivity (CVOR), which is noninvasively assessed in patients with Chiari malformation. The study involved 35 patients with Chiari malformation (26 patients with Chiari I and 9 patients with Chiari II) aged 4 to 58 years (of them 12 males). Hydrocephalus was diagnosed in 4 examined patients and myelosyringosis was diagnosed in 6 patients. Transcranial Doppler sonography was used to record the venous blood flow in the tentorial sinus of the brain while changing body position on the fracture table from +90° to -30°. There is significant CVOR abnormality in most patients with Chiari malformation (more than 90%), which is characterized by either increased CVOR (sometimes 5-6-fold compared to the upper normal level (considerable hyperreactivity) or complete absence of any changes during the orthostatic load (areactivity). Before surgical treatment, CVOR of patients with Chiari malformation is often characterized by areactivity, as well as a moderate or significant hyperreactivity. After surgical treatment (decompression of the foramen magnum), patients with Chiari malformation demonstrate significant normalization of the craniovertebral volumetric ratios and CVOR if often characterized by normoreactivity (in 63%) or, more rarely, moderate hyperreactivity. The rate of venous blood flow in the tentorial sinus of the brain in patients with Chiari malformation can be increased before the surgery and normalizes after surgery. The high incidence of disturbance of CVOR (over 90%) in patients with Chiari malformation was revealed. After surgical treatment, complete normalization of CVOR was observed in more than half of these patients (63%).

Teratology Public Affairs Committee position paper: maternal obesity and pregnancy.

PubMed

Scialli, Anthony R

2006-02-01

Compared to normal-weight women, obese women have an increased risk of infertility and pregnancy complications. The most consistently described pregnancy complications are hypertensive disorders, gestational diabetes mellitus, thromboembolic events, and cesarean section. Fetal and neonatal complications may include congenital malformations, macrosomia, and shoulder dystocia. The literature suggests that women with a body mass index (BMI) >or=30 have approximately double the risk of having a child with a neural tube defect (NTD) compared to normal-weight women, and the increased risk associated with higher maternal body weight does not appear to be modified by folic acid supplementation. The Public Affairs Committee of the Teratology Society supports the public health initiatives identified by the U.S. Food and Drug Administration in 2004 and the research initiatives identified by the National Institutes of Health in 2004. The Public Affairs Committee recommends that clinicians counsel women about appropriate caloric intake and exercise and that health-care providers educate parents about appropriate childhood nutrition. Breast-feeding should be encouraged based on evidence of a protective effect against childhood obesity, as well as other health advantages. Birth Defects Research (Part A), 2006. (c) 2006 Wiley-Liss, Inc.

High-flow vascular malformation treatment using ultrasound-guided laser combined with polidocanol sclerotherapy.

PubMed

Zhang, Yan; Zhou, Ping; Li, Lan; Li, Jia-le

2015-07-01

The current treatment for vascular malformations includes surgery, sclerotherapy, and embolization. However, each method has its limitations, such as recurrence, complications, scarring, and radiation exposure. Therefore, identifying an effective, minimally invasive treatment that reduces lesion recurrence is particularly important. We describe in detail a patient who received treatment with ultrasound-guided laser interruption of feeding vessels combined with polidocanol sclerotherapy after the recurrence of forearm high-flow vascular malformation.

Fetal diffusion tensor quantification of brainstem pathology in Chiari II malformation.

PubMed

Woitek, Ramona; Prayer, Daniela; Weber, Michael; Amann, Gabriele; Seidl, Rainer; Bettelheim, Dieter; Schöpf, Veronika; Brugger, Peter C; Furtner, Julia; Asenbaum, Ulrika; Kasprian, Gregor

2016-05-01

This prenatal MRI study evaluated the potential of diffusion tensor imaging (DTI) metrics to identify changes in the midbrain of fetuses with Chiari II malformations compared to fetuses with mild ventriculomegaly, hydrocephalus and normal CNS development. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were calculated from a region of interest (ROI) in the midbrain of 46 fetuses with normal CNS, 15 with Chiari II malformations, eight with hydrocephalus and 12 with mild ventriculomegaly. Fetuses with different diagnoses were compared group-wise after age-matching. Axial T2W-FSE sequences and single-shot echo planar DTI sequences (16 non-collinear diffusion gradient-encoding directions, b-values of 0 and 700 s/mm(2), 1.5 Tesla) were evaluated retrospectively. In Chiari II malformations, FA was significantly higher than in age-matched fetuses with a normal CNS (p = .003), while ADC was not significantly different. No differences in DTI metrics between normal controls and fetuses with hydrocephalus or vetriculomegaly were detected. DTI can detect and quantify parenchymal alterations of the fetal midbrain in Chiari II malformations. Therefore, in cases of enlarged fetal ventricles, FA of the fetal midbrain may contribute to the differentiation between Chiari II malformation and other entities. • FA in the fetal midbrain is elevated in Chiari II malformations. • FA is not elevated in hydrocephalus and mild ventriculomegaly without Chiari II. • Measuring FA may help distinguish different causes for enlarged ventricles prenatally. • Elevated FA may aid in the diagnosis of open neural tube defects. • Elevated FA might contribute to stratification for prenatal surgery in Chiari II.

Management of Low-Flow Vascular Malformations: Clinical Presentation, Classification, Patient Selection, Imaging and Treatment

DOE Office of Scientific and Technical Information (OSTI.GOV)

McCafferty, Ian, E-mail: ian.mccafferty@uhb.nhs.uk

This review article aims to give an overview of the current state of imaging, patient selection, agents and techniques used in the management of low-flow vascular malformations. The review includes the current classifications for low-flow vascular malformations including the 2014 updates. Clinical presentation and assessment is covered with a detailed section on the common sclerosant agents used to treat low-flow vascular malformations, including dosing and common complications. Imaging is described with a guide to a simple stratification of the use of imaging for diagnosis and interventional techniques.

Brainstem cavernous malformations: anatomical, clinical, and surgical considerations.

PubMed

Giliberto, Giuliano; Lanzino, Desiree J; Diehn, Felix E; Factor, David; Flemming, Kelly D; Lanzino, Giuseppe

2010-09-01

Symptomatic brainstem cavernous malformations carry a high risk of permanent neurological deficit related to recurrent hemorrhage, which justifies aggressive management. Detailed knowledge of the microscopic and surface anatomy is important for understanding the clinical presentation, predicting possible surgical complications, and formulating an adequate surgical plan. In this article the authors review and illustrate the surgical and microscopic anatomy of the brainstem, provide anatomoclinical correlations, and illustrate a few clinical cases of cavernous malformations in the most common brainstem areas.

Congenital intrahepatic arterioportal and portosystemic venous fistulae with jejunal arteriovenous malformation depicted on multislice spiral CT.

PubMed

Chae, Eun Jin; Goo, Hyun Woo; Kim, Seong-Chul; Yoon, Chong Hyun

2004-05-01

We report a symptomatic infant with very rare congenital arterioportal and portosystemic venous fistulae in the liver. Multislice CT after partial transcatheter embolisation revealed not only the complicated vascular architecture of the lesion, but also an incidental jejunal arteriovenous malformation which explained the patient's melena. The patient underwent ligation of the hepatic artery and resection of the jejunal arteriovenous malformation. Postoperative multislice CT clearly demonstrated the success of the treatment.

Surgical management of Chiari I malformation based on different cerebrospinal fluid flow patterns at the cranial-vertebral junction.

PubMed

Fan, Tao; Zhao, HaiJun; Zhao, XinGang; Liang, Cong; Wang, YinQian; Gai, QiFei

2017-10-01

Chiari I malformation has been shown to present different cerebrospinal fluid (CSF) flow patterns at the cranial-vertebral junction (CVJ). Posterior fossa decompression is the first-line treatment for symptomatic Chiari I malformation. However, there is still controversy on the indication and selection of decompression procedures. This research aims to investigate the clinical indications, outcomes, and complications of the decompression procedures as alternative treatments for Chiari I malformation, based on the different CSF flow patterns at the cranial-vertebral junction. In this study, 126 Chiari I malformation patients treated with the two decompression procedures were analyzed. According to the preoperative findings obtained by using cine phase-contrast MRI (cine PC-MRI), the abnormal CSF flow dynamics at the CVJ in Chiari I malformation was classified into three patterns. After a preoperative evaluation and an intraoperative ultrasound after craniectomy, the two procedures were alternatively selected to treat the Chiari I malformation. The indication and selection of the two surgical procedures, as well as their outcomes and complications, are reported in detail in this work. Forty-eight patients underwent subdural decompression (SDD), and 78 received subarachnoid manipulation (SAM). Ninety patients were diagnosed as having Chiari I malformation with a syrinx. Two weeks after the operation, the modified Japanese Orthopedic Association (mJOA) scores increased from the preoperative value of 10.67 ± 1.61 to 12.74 ± 2.01 (P < 0.01). The mean duration of follow-up was 24.8 months; the mJOA scores increased from the postoperative value of 12.74 ± 2.01 to 12.79 ± 1.91 at the end of follow-up (P = 0.48). More complications occurred in the patients who underwent SAM than in those who received SDD (SAM 11 of 78 (9.5%) vs SDD 2 of 48 (3.5%)). The abnormal CSF flow dynamics at the CVJ in Chiari I malformation can be classified into three patterns. A SAM procedure is more feasible in Chiari I malformation (CM1) patients with pattern III CSF flow dynamics, whereas a SDD procedure is more suitable for CM1 patients with pattern I CSF flow dynamics. In CM1 patients with pattern II CSF flow dynamics, an intraoperative ultrasound after craniectomy could play an important role in the selection of an effective decompression procedure.

Combined use of rapid-prototyping model and surgical guide in correction of mandibular asymmetry malformation patients with normal occlusal relationship.

PubMed

Xu, Haisong; Zhang, Ce; Shim, Yoong Hoon; Li, Hongliang; Cao, Dejun

2015-03-01

The aim of this study is to discuss the application of rapid-prototyping model and surgical guide in the treatment of mandibular asymmetry malformation with normal occlusal relationship. Twenty-four mandibular asymmetry malformation patients with relatively normal occlusal relationship were included in this study. Surgical 3-dimensional rapid-prototyping mandibular models were made for all patients from the computed tomography (CT) DICOM data. The presurgical plan was designed on the model, and the surgical guiders for the osteotomy lines were manufactured. Genioplasty and/or mandibular osteotomy based on the presurgical plan were performed on these patients with the combined use of the rapid-prototyping model and surgical guides. All patients underwent postoperative CT scan and had at least 3-month follow-up. All patients were satisfied with the final results. According to the postoperative CT images and 3-month follow-up, all patients' mandibular asymmetry malformation was significantly improved, and the operation time was distinctly shortened relative to the conventional method. Rapid-prototyping model and surgical guide are viable auxiliary devices for the treatment of mandibular asymmetry malformation with relatively normal occlusal relationship. Combined use of them can make precise preoperative design, improve effects of operation, and shorten operating time.

The Use of Lexical Neighborhood Test (LNT) in the Assessment of Speech Recognition Performance of Cochlear Implantees with Normal and Malformed Cochlea.

PubMed

Kant, Anjali R; Banik, Arun A

2017-09-01

The present study aims to use the model-based test Lexical Neighborhood Test (LNT), to assess speech recognition performance in early and late implanted hearing impaired children with normal and malformed cochlea. The LNT was administered to 46 children with congenital (prelingual) bilateral severe-profound sensorineural hearing loss, using Nucleus 24 cochlear implant. The children were grouped into Group 1-(early implantees with normal cochlea-EI); n = 15, 31/2-61/2 years of age; mean age at implantation-3½ years. Group 2-(late implantees with normal cochlea-LI); n = 15, 6-12 years of age; mean age at implantation-5 years. Group 3-(early implantees with malformed cochlea-EIMC); n = 9; 4.9-10.6 years of age; mean age at implantation-3.10 years. Group 4-(late implantees with malformed cochlea-LIMC); n = 7; 7-12.6 years of age; mean age at implantation-6.3 years. The following were the malformations: dysplastic cochlea, common cavity, Mondini's, incomplete partition-1 and 2 (IP-1 and 2), enlarged IAC. The children were instructed to repeat the words on hearing them. Means of the word and phoneme scores were computed. The LNT can also be used to assess speech recognition performance of hearing impaired children with malformed cochlea. When both easy and hard lists of LNT are considered, although, late implantees (with or without normal cochlea), have achieved higher word scores than early implantees, the differences are not statistically significant. Using LNT for assessing speech recognition enables a quantitative as well as descriptive report of phonological processes used by the children.

A transpubic approach for reconstructive surgery of genitourinary injuries and congenital malformations.

PubMed

Kaliciński, Z H; Bokwa, T; Perdzyński, W; Zarzycka-Szcerbowska, E; Harnik, M; Rybałko, W

1997-09-01

Four children were operated on by the transpubic approach for injury to the vagina or urethra and to correct malformations within the pelvis minor. One boy had posttraumatic stricture of the urethra, and a girl presented with disruption of the urethra and vagina. One of two boys who had congenital malformations was treated for epispadias and incontinence; the other for a large urethral diverticulum caused by anal atresia. Total reconstruction was achieved, and no complications of symphysis restoration were observed.

Pulmonary hypertensive crisis following ethanol sclerotherapy for a complex vascular malformation.

PubMed

Cordero-Schmidt, G; Wallenstein, M B; Ozen, M; Shah, N A; Jackson, E; Hovsepian, D M; Palma, J P

2014-09-01

Anhydrous ethanol is a commonly used sclerotic agent for treating vascular malformations. We describe the case of a full-term 15-day-old female with a complex venolymphatic malformation involving the face and orbit. During treatment of the lesion with ethanol sclerotherapy, she suffered acute pulmonary hypertensive crisis. We discuss the pathophysiology of pulmonary hypertension related to ethanol sclerotherapy, and propose that hemolysis plays a significant role. Recommendations for evaluation, monitoring and management of this complication are also discussed.

External Carotid-Internal Jugular Fistula as a Late Complication After Carotid Endarterectomy: A Rare Case

DOE Office of Scientific and Technical Information (OSTI.GOV)

Bakar, Bulent, E-mail: bulentbanrs@yahoo.com; Cekirge, Saruhan; Tekkok, Ismail Hakki

2011-02-15

A 66-year-old man presented with mild amnesia, progressive fatigue, ataxia, visual hallucinations, and debility. His past medical history included right-sided carotid endarterectomy performed elsewhere 6 years previously. Cranial magnetic resonance imaging showed left parieto-occipital arteriovenous malformation-like tortous vessels, venous congestion, and ischemic areas. Cerebral angiography showed right-sided compound external carotid artery-internal jugular vein (IJV) fistula, and distal occlusion of the right IJV. Transvenous embolization via contralateral IJV was performed, and the fistula, together with fistulous portion of the distal IJV, was sealed using coils. Two years later, patient is well with normal neurologic examination findings. The presence of an arteriovenousmore » communication after vascular surgery is a serious complication with potential long-term effects and therefore should be diagnosed and treated as promptly as possible.« less

Management of lymphatic malformations in children.

PubMed

Bagrodia, Naina; Defnet, Ann M; Kandel, Jessica J

2015-06-01

To review the literature on lymphatic malformations and to provide current opinion about the management of these lesions. Current treatment options include nonoperative management, surgery, sclerotherapy, radiofrequency ablation, and laser therapy. New therapies are emerging, including sildenafil, propranolol, sirolimus, and vascularized lymph node transfer. The primary focus of management centers on the patient's quality of life. Multimodal treatment of lymphatic malformations continues to expand as new information about the biology and genetics of these lesions is discovered, in addition to knowledge gained from clinical practice. A patient-centered approach should guide timing and modality of treatment. Continued study of lymphatic malformations will increase and solidify a treatment algorithm for these complicated lesions.

Complications of sclerotherapy for 75 head and neck venous malformations.

PubMed

Castrén, Eeva; Aronniemi, Johanna; Klockars, Tuomas; Pekkola, Johanna; Lappalainen, Kimmo; Vuola, Pia; Salminen, Päivi; Pitkäranta, Anne

2016-04-01

Sclerotherapy is one treatment option for head and neck venous malformations (VMs). Evaluation of complication risks is, however, essential to improve its safety. We aimed to systematically report sclerotherapy complications by means of the Clavien-Dindo classification and to distinguish factors predisposing to complications. We identified our institution's head and neck VM patients who received sclerotherapy between 1 January 2007 and 31 August 2013, analyzed patient reports retrospectively, and applied to them the Clavien-Dindo classification. Our 75 VM patients underwent a total of 150 sclerotherapy sessions. The most common sclerosants were 3 % sodium tetradecyl sulfate and polidocanol. Complications occurred in 13 patients (17.3 %) and in 15 sessions (10.0 %); 3 complications required extensive postprocedural treatment and caused permanent morbidity, whereas 12 received conservative treatment. Patients with sclerotherapy complications underwent more treatments (p = 0.009) and more often needed further surgery (p = 0.007). We thus consider sclerotherapy a relatively safe treatment modality for head and neck VMs. To avoid complications, evaluation of VM characteristics and optimal treatment technique in a multidisciplinary team is vital.

Endoscopic third ventriculostomy

PubMed Central

Yadav, Yad Ram; Parihar, Vijay; Pande, Sonjjay; Namdev, Hemant; Agarwal, Moneet

2012-01-01

Endoscopic third ventriculostomy (ETV) is considered as a treatment of choice for obstructive hydrocephalus. It is indicated in hydrocephalus secondary to congenital aqueductal stenosis, posterior third ventricle tumor, cerebellar infarct, Dandy-Walker malformation, vein of Galen aneurism, syringomyelia with or without Chiari malformation type I, intraventricular hematoma, post infective, normal pressure hydrocephalus, myelomeningocele, multiloculated hydrocephalus, encephalocele, posterior fossa tumor and craniosynostosis. It is also indicated in block shunt or slit ventricle syndrome. Proper Pre-operative imaging for detailed assessment of the posterior communicating arteries distance from mid line, presence or absence of Liliequist membrane or other membranes, located in the prepontine cistern is useful. Measurement of lumbar elastance and resistance can predict patency of cranial subarachnoid space and complex hydrocephalus, which decides an ultimate outcome. Water jet dissection is an effective technique of ETV in thick floor. Ultrasonic contact probe can be useful in selected patients. Intra-operative ventriculo-stomography could help in confirming the adequacy of endoscopic procedure, thereby facilitating the need for shunt. Intraoperative observations of the patent aqueduct and prepontine cistern scarring are predictors of the risk of ETV failure. Such patients may be considered for shunt surgery. Magnetic resonance ventriculography and cine phase contrast magnetic resonance imaging are effective in assessing subarachnoid space and stoma patency after ETV. Proper case selection, post-operative care including monitoring of ICP and need for external ventricular drain, repeated lumbar puncture and CSF drainage, Ommaya reservoir in selected patients could help to increase success rate and reduce complications. Most of the complications develop in an early post-operative, but fatal complications can develop late which indicate an importance of long term follow up. PMID:22865970

An open-label study to evaluate sildenafil for the treatment of lymphatic malformations.

PubMed

Danial, Christina; Tichy, Andrea L; Tariq, Umar; Swetman, Glenda L; Khuu, Phuong; Leung, Thomas H; Benjamin, Latanya; Teng, Joyce; Vasanawala, Shreyas S; Lane, Alfred T

2014-06-01

Lymphatic malformations can be challenging to treat. Mainstay interventions including surgery and sclerotherapy are invasive and can result in local recurrence and complications. We sought to assess the effect of 20 weeks of oral sildenafil on reducing lymphatic malformation volume and symptoms in children. Seven children (4 boys, 3 girls; ages 13-85 months) with lymphatic malformations were given oral sildenafil for 20 weeks in this open-label study. The volume of the lymphatic malformation was calculated blindly using magnetic resonance imaging performed before and after 20 weeks of sildenafil. Lymphatic malformations were assessed clinically on weeks 4, 12, 20, and 32. Both the physician and parents evaluated the lymphatic malformation in comparison with baseline. Four subjects had a lymphatic malformation volume decrease (1.0%-31.7%). In 2 subjects, despite a lymphatic malformation volume increase (1.1%-3.7%), clinical improvement was noted while on sildenafil. One subject had a 29.6% increase in lymphatic malformation volume and no therapeutic response. Lymphatic malformations of all 6 subjects who experienced a therapeutic response on sildenafil softened and became easily compressible. Adverse events were minimal. A randomized controlled trial will be necessary to verify the effects of sildenafil on lymphatic malformations. Sildenafil can reduce lymphatic malformation volume and symptoms in some children. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Restudy of malformations of the internal auditory meatus, cochlear nerve canal and cochlear nerve.

PubMed

Li, Youjin; Yang, Jun; Liu, Jinfen; Wu, Hao

2015-07-01

The present study aims to restudy the correlation between the internal auditory meatus (IAM), the cochlear nerve canal (CNC), the cochlear nerve (CN) and inner ear malformations. In this retrospective study design, the abnormal diameter of the IAM, CNC and CN in patients with any kind of inner ear malformations was evaluated using multi-slice spiral computed tomography (MSCT) (37 patients) and magnetic resonance imaging (MRI) (18 patients). Of 37 MSCT-diagnosed patients, 2 had IAM atresia, 11 IAM stenosis, 22 enlarged IAM, and 2 normal IAM with an abnormal CN. MRI diagnoses of 18 patients revealed 8 cases of aplastic CN, 6 hypoplastic CN, and 4 normal CN. CNC stenosis was associated with CN hypoplasia (P < 0.001). Patients with absent or stenotic IAM had less CN development than those with normal or enlarged IAM (P = 0.001). We propose a modification of the existing classification systems with a view to distinguishing malformations of the IAM, CNC and CN.

Correcting prominent ears with the island technique.

PubMed

DeMoura, L F

1977-01-01

A surgical procedure is described which corrects the ansiform ear by repositioning and reconstructing the anthelix and the anterior crus with the formation of the triangular fossa. This corrects the scaphoconchal angle and improves the cephaloauricular angle, overcoming the problem of prominent ears. Correction in early childhood is recommended in order to avoid personality problems that may result from the deformity, particularly in boys. The technique employed yields important advantages: (1) prolonged use of the helmet-type of surgical dressing is unnecessary; (2) scars are less conspicuous; (3) the outcome is attractive and normal; (4) bleeding and inflammatory complications are avoided; and (5) recurrence of the malformation is unlikely.

Risk of major congenital malformations in relation to maternal overweight and obesity severity: cohort study of 1.2 million singletons

PubMed Central

Cnattingius, Sven; Villamor, Eduardo; Söderling, Jonas; Pasternak, Björn; Stephansson, Olof; Neovius, Martin

2017-01-01

Objective To estimate the risks of major congenital malformations in the offspring of mothers who are underweight (body mass index (BMI) <18.5), overweight (BMI 25 to <30), or in obesity classes I (BMI 30 to <35), II (35 to <40), or III (≥40) compared with offspring of normal weight mothers (BMI 18.5 to <25) in early pregnancy. Design Population based cohort study. Setting Nationwide Swedish registries. Participants 1 243 957 liveborn singleton infants from 2001 to 2014 in Sweden. Data on maternal and pregnancy characteristics were obtained by individual record linkages. Exposure Maternal BMI at the first prenatal visit. Main outcome measures Offspring with any major congenital malformation, and subgroups of organ specific malformations diagnosed during the first year of life. Risk ratios were estimated using generalised linear models adjusted for maternal factors, sex of offspring, and birth year. Results A total of 43 550 (3.5%) offspring had any major congenital malformation, and the most common subgroup was for congenital heart defects (n=20 074; 1.6%). Compared with offspring of normal weight mothers (risk of malformations 3.4%), the proportions and adjusted risk ratios of any major congenital malformation among the offspring of mothers with higher BMI were: overweight, 3.5% and 1.05 (95% confidence interval 1.02 to 1.07); obesity class I, 3.8% and 1.12 (1.08 to 1.15), obesity class II, 4.2% and 1.23 (1.17 to 1.30), and obesity class III, 4.7% and 1.37 (1.26 to 1.49). The risks of congenital heart defects, malformations of the nervous system, and limb defects also progressively increased with BMI from overweight to obesity class III. The largest organ specific relative risks related to maternal overweight and increasing obesity were observed for malformations of the nervous system. Malformations of the genital and digestive systems were also increased in offspring of obese mothers. Conclusions Risks of any major congenital malformation and several subgroups of organ specific malformations progressively increased with maternal overweight and increasing severity of obesity. For women who are planning pregnancy, efforts should be encouraged to reduce adiposity in those with a BMI above the normal range. PMID:28615173

Leaping lopsided: a review of the current hypotheses regarding etiologies of limb malformations in frogs.

PubMed

Loeffler, I K; Stocum, D L; Fallon, J F; Meteyer, C U

2001-10-15

Recent progress in the investigation of limb malformations in free-living frogs has underlined the wide range in the types of limb malformations and the apparent spatiotemporal clustering of their occurrence. Here, we review the current understanding of normal and abnormal vertebrate limb development and regeneration and discuss some of the molecular events that may bring about limb malformation. Consideration of the differences between limb development and regeneration in amphibians has led us to the hypothesis that some of the observed limb malformations come about through misdirected regeneration. We report the results of a pilot study that supports this hypothesis. In this study, the distal aspect of the right hindlimb buds of X. laevis tadpoles was amputated at the pre-foot paddle stage. The tadpoles were raised in water from a pond in Minnesota at which 7% of surveyed newly metamorphosed feral frogs had malformations. Six percent (6 of 100) of the right limbs of the tadpoles raised in pond water developed abnormally. One truncated right limb was the only malformation in the control group, which was raised in dechlorinated municipal water. All unamputated limbs developed normally in both groups. Three major factors under consideration for effecting the limb malformations are discussed. These factors include environmental chemicals (primarily agrichemicals), encysted larvae (metacercariae) of trematode parasites, and increased levels of ultraviolet light. Emphasis is placed on the necessary intersection of environmental stressors and developmental events to bring about the specific malformations that are observed in free-living frog populations.

Leaping lopsided: a review of the current hypotheses regarding etiologies of limb malformations in frogs

USGS Publications Warehouse

Loeffler, I.K.; Stocum, D.L.; Fallon, J.F.; Meteyer, C.U.

2001-01-01

Recent progress in the investigation of limb malformations in free-living frogs has underlined the wide range in the types of limb malformations and the apparent spatiotemporal clustering of their occurrence. Here, we review the current understanding of normal and abnormal vertebrate limb development and regeneration and discuss some of the molecular events that may bring about limb malformation. Consideration of the differences between limb development and regeneration in amphibians has led us to the hypothesis that some of the observed limb malformations come about through misdirected regeneration. We report the results of a pilot study that supports this hypothesis. In this study, the distal aspect of the right hindlimb buds of X. laevis tadpoles was amputated at the pre-foot paddle stage. The tadpoles were raised in water from a pond in Minnesota at which 7% of surveyed newly metamorphosed feral frogs had malformations. Six percent (6 of 100) of the right limbs of the tadpoles raised in pond water developed abnormally. One truncated right limb was the only malformation in the control group, which was raised in dechlorinated municipal water. All unamputated limbs developed normally in both groups. Three major factors under consideration for effecting the limb malformations are discussed. These factors include environmental chemicals (primarily agrichemicals), encysted larvae (metacercariae) of trematode parasites, and increased levels of ultraviolet light. Emphasis is placed on the necessary intersection of environmental stressors and developmental events to bring about the specific malformations that are observed in free-living frog populations.

[Rupture of non-communicating rudimentary pregnant uterine horn in a pseudo-unicornuate uterus at 23 weeks of amenorrhea. Case report].

PubMed

Fuchs, F; Guillot, E; Cordier, A-G; Chis, C; Raynal, P; Panel, P

2008-04-01

Pregnancy in the rudimentary horn of a unicornuate uterus is an extremely rare form of ectopic gestation associated with a high risk of uterine rupture. We report the case of a pregnancy developed in a non communicating rudimentary horn of a unicornuate uterus complicated by horn rupture at 23 weeks of amenorrhea showing as an acute abdominal pain and massive hemoperitoneum. This patient's uterine abnormality was known before, as this woman has delivered two years before at term a healthy boy by cesarean section. This past pregnancy was located in the normal horn and the non communicating rudimentary horn seemed at this time normal. This uterine malformation is presented with its gynecological and obstetrical entailments as well as methods that could prevent such outcome.

Field guide to malformations of frogs and toads: with radiographic interpretations

USGS Publications Warehouse

Meteyer, Carol U.

2000-01-01

In 1995, students found numerous malformed frogs on a field trip to a Minnesota pond. Since that time, reports of malformed frogs have increased dramatically. Malformed frogs have now been reported in 44 states in 38 species of frogs, and 19 species of toads. Estimates as high as 60% of the newly metamorphosed frog populations have had malformations at some ponds (NARCAM, ’99). The wide geographic distribution of malformed frogs and the variety of malformations are a concern to resource managers, research scientists and public health officials. The potential for malformations to serve as a signal of ecosystem disruption, and the affect this potential disruption might have on other organisms that share those ecosystems, has not been resolved. Malformations represent an error that occurred early in development. The event that caused the developmental error is temporally distant from the malformation we see in the fully developed animal. Knowledge of normal developmental principles is necessary to design thoughtful investigations that will define the events involved in abnormal development in wild frog populations.Development begins at the time an egg is fertilized and progresses by chemical communication between cells and cell layers. This communication is programmed through gene expression. Malformations represent primary errors in development, errors in chemical communication or translation of genetic information. Deformations arise later in development and usually result from the influence of mechanical factors (such as amputation) that alter shape or anatomy of a structure that has developed normally. The occurrence and the type of malformations are influenced by the type of error or insult as well as the timing of the error (the developmental stage at which the error occurred). The appearance of the malformation can therefore provide clues that suggest when the error may have occurred. If the malformation is an incomplete organ, such as an incomplete limb, the factor or insult acted during a susceptible period prior to organ completion. Although defining the anatomy of the malformed metamorphosed frog can give us an idea of the approximate window during which the developmental insult was initiated, and might even suggest the type of insult that may have occurred, the morphology of the malformation does not define the cause. To define causes and mechanisms of frog malformations we need to use well designed investigations that are different from traditional tests used in acute toxicity or disease pathogenicity studies. When investigating malformations in metamorphosed frogs, we are looking at the affect of exposure to an agent that occurred early in tadpole development. Therefore investigations to determine causes of malformations need to look at agents that are present in the tadpoles or their environments at these early developmental times. Laboratory experiments need to expose embryos and tadpoles to suspect agents at appropriate developmental stages and look at acute results, such as toxicity and death, as well as following the developmental process to completion to determine the impact of the agent on the developing tadpole and the fully developed frog. This means holding animals past metamorphic climax to assure that the anatomy and physiology of the adult have developed normally.As we look at field collections of abnormal frogs, we need to keep in mind that these collections reflect survivors only. We are looking at malformations that were not fatal to tadpoles. We cannot assume that because we do not collect other malformations, they did not exist. More work needs to be done on the developing tadpole, in the field and in the laboratory, to better elucidate the range, frequency, character and causes of anuran malformations.

Abernethy malformation: a case report

PubMed Central

2012-01-01

Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4 weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients. PMID:22642663

Corseting: a new technique for the management of diffuse venous malformations in the head and neck region.

PubMed

Nair, S C; Chawla, J P; Shroff, S S; Kumar, B; Shah, A

2018-05-19

A new surgical technique of intra-tumoural ligation for the treatment of low-flow vascular malformations in the head and neck region is proposed. Ninety patients with diffuse low-flow vascular malformations diagnosed clinically and/or radiologically were treated surgically with the corset suturing technique. All patient records and clinical photographs were reviewed retrospectively. Significant clinical results were obtained: a reduction of the turnout tumour mass and a return of the regional facial outline was evident within 4 weeks after surgery. Recurrence of the lesion (seen in 10 patients) and transient facial nerve palsy (seen in seven patients) were the main complications. All incisions were placed within the junction lines of cosmetic subunits and skin tension lines of the head and neck. The advantages of this technique over the widely used and popular Popescu technique are discussed. Also, the indications, disadvantages, operative technique, and complications are described. In conclusion, corset suturing was found to be a simple, aesthetic, and cost-effective method of treating diffuse low-flow vascular malformations of the head and neck. Copyright © 2018 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

The cephaloceles: A clinical, epidemiological and therapeutic study of 50 cases.

PubMed

Kabré, A; Zabsonre, D S; Sanou, A; Bako, Y

2015-08-01

Cephaloceles are congenital malformations characterized by externalization of the meninges and/or brain tissue through a congenital skull bone defect. In developed countries, this malformation is rare but in our developing countries, this pathology remains one of our concerns. To describe the epidemiological, clinical and therapeutic aspects of the cephaloceles. A retrospective study was conducted from 2007 to 2013 on all cases of cephalocele supported in the department of neurosurgery of the Yalgado Ouédraogo University Teaching Hospital of Ouagadougou. The malformations were supplemented by CT scan. All patients were operated. The surgical procedure in cephaloceles of the convexity consisted of a direct approach. Sincipital cephaloceles were operated by transcranial approach or combined approach associating transcranial and transnasal approaches. Fifty patients were gathered during the 7-year period. There were 18 boys and 32 girls. The ages ranged from 1 day to 11 years. The cephaloceles were located on the vault of the skull in 78%; the lesion was sincipital in 22%. The malformation was covered with normal skin in 92%; it was pediculated in 78%. CT scan allowed the classification of cases as meningo-encephaloceles in 31 cases (62%) and meningoceles in 18 cases (36%) and one pure encephalocele. The immediate postoperative course was uneventful in 42 cases (84%); 8 postoperative deaths were recorded. At medium and long term, 4 patients (8%) developed complications of psychomotor deficiency in 3 cases and hydrocephalus in 1 case. The main reasons for the poor prognosis were superinfection, hydrocephalus and/or other brain malformations. Cephaloceles remain relatively frequent in our practice. After surgery, mental failure and hydrocephalus can occur impairing the prognosis. The most suitable solution is a policy of prevention with folic acid treatment before and during pregnancy and following up adequate pregnancies. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Liquid nitrogen cryotherapy for lip mucous membrane venous malformation in infants.

PubMed

Zhang, Da-Ming; Wang, You-Yuan; Lin, Zhao-Yu; Yang, Zhao-Hui; Chen, Wei-Liang

2015-03-01

Lip mucous membrane venous malformations are common benign lesions in infants. This clinical study evaluates the efficacy and safety of liquid nitrogen cryotherapy used to treat this condition. A total of 84 pediatric patients undergoing liquid nitrogen cryotherapy for venous malformations involving the lips were reviewed, with 45 males and 39 females treated. The overall median age at mucous membrane venous malformation diagnosis was 5.6 months (range 2-18 months). The venous malformations involved the vermilion of the lower lip in 44 cases, the vermilion of the upper lip in 31 cases, and both vermilions in 9 cases. No complications due to anesthesia occurred. After a follow-up period of 2-38 months (mean 25 months), 65 lesions (77.4 %) were completely involuted, 14 lesions (16.7 %) were mostly involuted, and 5 lesions (5.9 %) were partially involuted; no lesions showed a minor amount of involution. Liquid nitrogen cryotherapy is an effective, simple, and safe management tool for mucous membrane venous malformations of the lip in infants.

To split or not to split: colostomy complications for anorectal malformations or hirschsprung disease: a single center experience and a systematic review of the literature.

PubMed

van den Hondel, Desiree; Sloots, Cornelius; Meeussen, Conny; Wijnen, Rene

2014-02-01

The aim of this article is to identify the ideal type and location of colostomy in children with colorectal disease. A retrospective case study of children with an anorectal malformation who received a colostomy, born between January 1990 and July 2012. Furthermore, a systematic literature search on colostomies in neonates with an anorectal malformation or Hirschsprung disease. Colostomies were classified as loop or split colostomies in the transverse or sigmoid colon. Outcome measures were mortality and complications such as prolapse, technical difficulties with the reconstruction, urinary tract infections, and others. The mortality rate in the 180 children with anorectal malformation was 6%, and none of them were directly related to stoma formation or closure. The overall complication rate was 23% and the specific rates for the two types of procedures and the two locations of the colostomy did not differ (p = 0.389 and p = 0.667, respectively). All prolapses (n = 22) occurred in loop colostomies in the transverse colon. One colostomy required revision because of insufficient length for the reconstruction. Urinary tract infections were not documented. A total of eight studies were included in the systematic review (1982-2011; 2,954 patients). Mortality ranged between 0.1 and 11%. Loop colostomies had more complications than split colostomies (63 vs. 45%; p = 0.007), mainly prolapse (18 vs. 6%; p < 0.001). Overall complication rate differed between transverse en sigmoid colostomies (62 vs. 51%, p = 0.006), and prolapse occurred more often in the transverse colon (23 vs. 7%; p < 0.001). Revision because of insufficient length during the reconstruction was needed in 0 to 6%. Two studies reported on urinary tract infections which are as follows: One showed no difference between loop or split colostomies, whereas the other showed frequent episodes of urinary tract infections in 64% of the loop colostomies. The complication to be avoided in transverse colostomies is prolapse and the surgical technique should be modified accordingly. The procedure of split sigmoid colostomy is meticulous, and the risk of insufficient length for the reconstruction remains. Georg Thieme Verlag KG Stuttgart · New York.

Papilloedema due to Chiari I malformation

PubMed Central

Zhang, Jason Chao; Bakir, Belal; Lee, Andrew; Yalamanchili, Sushma S

2011-01-01

The Chiari I malformation is a congenital abnormality characterised by downward displacement of the cerebellar tonsils through the foramen magnum into the cervical spine. It presents clinically most often in young adult women. Known ocular manifestations linked to Chiari I consist primarily of oculomotor paresis with cranial nerve VI palsy and convergence/divergence abnormalities. Papilloedema is a rare manifestation of Chiari I with a clinical presentation often similar to that of idiopathic intracranial hypertension. To highlight this unusual complication, the authors report a 64-year-old female who developed papilloedema as the only presenting neurological symptom resulting from a Chiari I malformation. PMID:22675036

Complications After Treatment of Head and Neck Venous Malformations With Sodium Tetradecyl Sulfate Foam.

PubMed

Colletti, Giacomo; Deganello, Alberto; Bardazzi, Alessandro; Mattassi, Raul; Dalmonte, Pietro; Gazzabin, Luca; Stillo, Francesco

2017-06-01

The aim of this study was to evaluate complications in patients with head and neck venous malformations (VMs) treated with foam sclerotherapy using sodium tetradecyl sulfate (STS). The authors retrospectively evaluated the complications, pain. and degree of satisfaction in 69 consecutive patients affected by cervicofacial VM managed with STS using the Tessari method in a single institution. The average number of procedures for each patient was 2.1. The most frequent complication was blistering. We observed 1 patient of temporary weakness of a facial nerve branch, 1 paradoxical embolism, and 1 orbital compartment syndrome.The average pain score was 0 (no pain at all) (51.5%). There was no statistically significant correlation between patient satisfaction and the presence of complications or the degree of pain. Sclerotherapy with STS is an effective treatment that yields to very high patient satisfaction. This procedure has an overall low complication rate and is usually effective within a few sessions. However, severe complications may occur; these must be pointed out in the informed consent and the surgeon must be aware of and ready to quickly treat them to prevent long-term sequelae.

Risk of major congenital malformations in relation to maternal overweight and obesity severity: cohort study of 1.2 million singletons.

PubMed

Persson, Martina; Cnattingius, Sven; Villamor, Eduardo; Söderling, Jonas; Pasternak, Björn; Stephansson, Olof; Neovius, Martin

2017-06-14

Objective  To estimate the risks of major congenital malformations in the offspring of mothers who are underweight (body mass index (BMI) <18.5), overweight (BMI 25 to <30), or in obesity classes I (BMI 30 to <35), II (35 to <40), or III (≥40) compared with offspring of normal weight mothers (BMI 18.5 to <25) in early pregnancy. Design  Population based cohort study. Setting  Nationwide Swedish registries. Participants  1 243 957 liveborn singleton infants from 2001 to 2014 in Sweden. Data on maternal and pregnancy characteristics were obtained by individual record linkages. Exposure  Maternal BMI at the first prenatal visit. Main outcome measures  Offspring with any major congenital malformation, and subgroups of organ specific malformations diagnosed during the first year of life. Risk ratios were estimated using generalised linear models adjusted for maternal factors, sex of offspring, and birth year. Results  A total of 43 550 (3.5%) offspring had any major congenital malformation, and the most common subgroup was for congenital heart defects (n=20 074; 1.6%). Compared with offspring of normal weight mothers (risk of malformations 3.4%), the proportions and adjusted risk ratios of any major congenital malformation among the offspring of mothers with higher BMI were: overweight, 3.5% and 1.05 (95% confidence interval 1.02 to 1.07); obesity class I, 3.8% and 1.12 (1.08 to 1.15), obesity class II, 4.2% and 1.23 (1.17 to 1.30), and obesity class III, 4.7% and 1.37 (1.26 to 1.49). The risks of congenital heart defects, malformations of the nervous system, and limb defects also progressively increased with BMI from overweight to obesity class III. The largest organ specific relative risks related to maternal overweight and increasing obesity were observed for malformations of the nervous system. Malformations of the genital and digestive systems were also increased in offspring of obese mothers. Conclusions  Risks of any major congenital malformation and several subgroups of organ specific malformations progressively increased with maternal overweight and increasing severity of obesity. For women who are planning pregnancy, efforts should be encouraged to reduce adiposity in those with a BMI above the normal range. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Head and neck vascular malformations: time-resolved MR projection angiography.

PubMed

Ziyeh, S; Schumacher, M; Strecker, R; Rössler, J; Hochmuth, A; Klisch, J

2003-10-01

Extracranial vascular anomalies can be divided into haemangiomas and vascular malformations. The latter can be subdivided on the basis of the predominant type of vascular channels. Separation of high- and low-flow vascular malformations is of clinical importance. We report preliminary observations on time-resolved magnetic resonance projection angiography (MRPA) of vascular malformations of the head and neck. We examined eight patients with vascular anomalies of the head and neck. On MRPA the time between the early arterial phase and enhancement of the malformation could be used to distinguish high- and low-flow lesions. High-flow arteriovenous malformations showed early, intense enhancement. Venous malformations were either not visible on MRPA or showed late enhancement of veins. One patient was examined after embolisation of an arteriovenous fistula of the mandible. Normal MRPA was taken to indicate absence of a residual lesion.

The rectourogenital connection in anorectal malformations is an ectopic anal canal.

PubMed

Rintala, R; Lindahl, H; Sariola, H; Rapola, J; Louhimo, I

1990-06-01

Histological investigation of the rectal blind pouch and rectourogenital or rectoperineal connection was performed in 10 patients with high or intermediate anorectal malformations. Nine of the patients underwent postoperative manometric evaluation. In nine of the 10 patients, transitional epithelium typical of the normal anal canal could be found in the distal rectum or rectal end of the fistulous connection. The zone of transitional epithelium was aganglionic and showed abnormally strong acetylcholinesterase reaction. A positive rectoanal inhibitory reflex was found manometrically in all cases in which the distal rectal pouch was utilized in the reconstruction of the anal canal. The slow pressure wave activity of the reconstructed anal canal was characteristic of a normal anal canal. The manometric evidence strongly suggests that there is a functional internal sphincter in high and intermediate anorectal malformations. The present study shows that in anorectal malformations the distal rectal pouch with the fistulous connection is actually an ectopic anal canal.

The Abernethy malformation-myriad imaging manifestations of a single entity.

PubMed

Ghuman, Samarjit S; Gupta, Saumya; Buxi, T B S; Rawat, Kishan S; Yadav, Anurag; Mehta, Naimish; Sud, Seema

2016-01-01

Abernethy malformation, also known as congenital extrahepatic portosystemic shunts (CEPS) is a rare clinical entity and manifests with different clinical symptoms. CEPS are abnormalities of vascular development where there is shunting of portal blood into the systemic venous system. Multidetector computed tomography (MDCT) is a fast and effective modality for evaluation of CEPS. CT displays all the information desired by the surgeon as well as the clinician including the anatomy of the splenic and superior mesenteric veins, size and site of the shunt, presence or absence of the portal vein radicles, and helps to plan the therapy and even the follow-up of these patients. Contrast-enhanced magnetic resonance imaging (MRI) has also emerged as a promising tool for the evaluation of liver lesions associated with the malformation. The Radiologist should be aware of the various imaging appearances of this entity including its complications. In this article, we describe the imaging appearances of CEPS, their complications, and their imaging appearances on CT and MRI. We have also described various associated anomalies.

[Treatment of hyperthyroidism due to Graves' disease: what is the recommended antithyroid drug during pregnancy?].

PubMed

Caron, P

2013-05-01

Clinical hyperthyroidism during the first trimester of pregnancy due to Graves' disease can be associated with maternal, obstetrical and fetal complications, indicating an active treatment to restore normal thyroid function. Antithyroid drugs are the first line treatment in pregnant women with hyperthyroidism. Due to the increased congenital malformations reported in neonates after first-trimester carbimazole/methimazole treatment and propylthiouracil associated hepatotoxicity, the recommended treatment for pregnant women with hyperthyroid Graves' disease is propylthiouracil during the first trimester of pregnancy and following the first trimester, consideration should be given switching to carbimazole/methimazole during the second part of gestation. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Atlas Assimilation Patterns in Different Types of Adult Craniocervical Junction Malformations.

PubMed

Ferreira, Edson Dener Zandonadi; Botelho, Ricardo Vieira

2015-11-01

This is a cross-sectional analysis of resonance magnetic images of 111 patients with craniocervical malformations and those of normal subjects. To test the hypothesis that atlas assimilation is associated with basilar invagination (BI) and atlas's anterior arch assimilation is associated with craniocervical instability and type I BI. Atlas assimilation is the most common malformation in the craniocervical junction. This condition has been associated with craniocervical instability and BI in isolated cases. We evaluated midline Magnetic Resonance Images (MRIs) (and/or CT scans) from patients with craniocervical junction malformation and normal subjects. The patients were separated into 3 groups: Chiari type I malformation, BI type I, and type II. The atlas assimilations were classified according to their embryological origins as follows: posterior, anterior, and both arches assimilation. We studied the craniometric values of 111 subjects, 78 with craniocervical junction malformation and 33 without malformations. Of the 78 malformations, 51 patients had Chiari type I and 27 had BI, of whom 10 presented with type I and 17 with type II BI. In the Chiari group, 41 showed no assimilation of the atlas. In the type I BI group, all patients presented with anterior arch assimilation, either in isolation or associated with assimilation of the posterior arch. 63% of the patients with type II BI presented with posterior arch assimilation, either in isolation or associated with anterior arch assimilation. In the control group, no patients had atlas assimilation. Anterior atlas assimilation leads to type I BI. Posterior atlas assimilation more frequently leads to type II BI. Separation in terms of anterior versus posterior atlas assimilation reflects a more accurate understanding of the clinical and embryological differences in craniocervical junction malformations. N/A.

Clinical results of stereotactic heavy-charged-particle radiosurgery for intracranial angiographically occult vascular malformations

DOE Office of Scientific and Technical Information (OSTI.GOV)

Levy, R.P.; Fabrikant, J.I.; Phillips, M.H.

1989-12-01

Angiographically occult vascular malformations (AOVMs) of the brain have been recognized for many years to cause neurologic morbidity and mortality. They generally become symptomatic due to intracranial hemorrhage, focal mass effect, seizures or headaches. The true incidence of AOVMs is unknown, but autopsy studies suggest that they are more common than high-flow angiographically demonstrable arteriovenous malformations (AVMs). We have developed stereotactic heavy-charged-particle Bragg peak radiosurgery for the treatment of inoperable intracranial vascular malformations, using the helium ion beams at the Lawrence Berkeley Laboratory 184-inch Synchrocyclotron and Bevatron. This report describes the protocol for patient selection, radiosurgical treatment planning method, clinicalmore » and neuroradiologic results and complications encountered, and discusses the strengths and limitations of the method. 10 refs., 1 fig.« less

[Posterior decompression of the craniovertebral junction in syringomyelia combined with Chiari-1 malformation in children].

PubMed

Sanakoeva, A V; Korshunov, A E; Kadyrov, Sh U; Khukhlaeva, E A; Kushel', Yu V

to develop the algorithm for defining the amount of posterior decompression of the craniovertebral junction in children with syringomyelia combined with Chiari-1 malformation. Sixty eight children with syringomyelia and Chiari-1 malformation, under age of 18 years, underwent posterior decompression of the craniovertebral junction (PDCVJ) in the period from January 2001 to June 2016. Seven (10%) patients underwent extradural decompression (EDD), 16 (24%) patients underwent extra-arachnoid duraplasty (EAD), 25 (37%) patients underwent intra-arachnoid dissection (IAD) and duraplasty, and 20 (29%) patients underwent PDCVJ and placement of a fourth ventricle-subarachnoid shunt. Clinical improvement occurred in 85% of patients, and stabilization was observed in 11% of patients. Syringomyelia regressed in 78% of cases. There were no complications associated with EDD; however, re-operation was required in 3 (43%) cases. In the case of EAD, treatment results were satisfactory in 11 (79%) patients; re-operation was required in 2 (12.5%) cases; there were no complications in the early postoperative period. The highest complication rate of 6 (30%) cases was associated with shunt placement and duraplasty. However, long-term results in this group of patients were satisfactory in 16 (94%) cases, and MRI-based positive changes were observed in 100% of cases. According to our analysis, EAD is the method of choice for PDCVJ in children with syringomyelia and Chiari-1 malformation without myelopathy symptoms. In the presence of myelopathy symptoms, intra-arachnoid dissection (with or without shunting) is an acceptable alternative. To our opinion, the use of EDD in syringomyelia is unadvisable.

Insulin Glulisine in Pregnancy - Experience from Clinical Trials and Post-marketing Surveillance.

PubMed

Doder, Zoran; Vanechanos, Demi; Oster, Manfred; Landgraf, Wolfgang; Lin, Stephen

2015-04-01

Pregnancies complicated by gestational diabetes or pre-existing type 1 or type 2 diabetes mellitus are associated with a higher rate of adverse outcomes compared with pregnancies in the background population. These outcomes include miscarriage, pre-term delivery, pre-eclampsia, perinatal mortality and congenital malformations. Insulin glulisine (Apidra ® , Sanofi) is a rapid-acting insulin analogue indicated for the treatment of adults, adolescents and children 6 years or older with diabetes mellitus where treatment with insulin is required. Here, all post-marketing and clinical trials safety data with insulin glulisine in pregnancy available to Sanofi up to June 2014 are summarised together with the findings of a comprehensive literature search. Cumulatively, a total of 303 pregnancy exposures to insulin glulisine were received. Of these 303 pregnancy exposures, there were 116 live births, 12 spontaneous abortions, two late foetal intra-uterine deaths (>28 weeks), three elective abortions and 170 cases without a known pregnancy outcome. There were six cases of congenital malformations; of these, there were five live births; in the other case a live birth was not confirmed. The congenital malformations reported to date do not reveal a pattern of defects. In conclusion, the evidence to date does not suggest a causal association between insulin glulisine and an increased risk of pregnancy complications or congenital malformations.

Intracerebral haemorrhage and drug abuse in young adults.

PubMed

McEvoy, A W; Kitchen, N D; Thomas, D G

2000-10-01

The epidemic of abuse of the so-called 'designer drugs' amphetamine, cocaine and ecstasy--is fast replacing traditional aetiological factors as the largest cause of intracerebral haemorrhage among young adults. Traditional teaching is that these represent hypertensive haemorrhages. Recent reports, however, have indicated that these patients may harbour underlying vascular malformations. We review 13 patients with a positive history of drug abuse preceding the onset of intracerebral haemorrhage. These patients presented to the National Hospital for Neurology and Neurosurgery in central London over a 7-month period. Of the 13 patients (eight male, five female), average age 31 years (19-43) years), 10 were well enough to undergo cerebral angiography. Intracranial aneurysms were demonstrated in six patients and arteriovenous malformations in three patients. In only one of the patients was the angiogram normal. A further patient was subsequently shown to have a middle cerebral artery aneurysm at autopsy. The epidemiology, pharmacology and systemic effects of these drugs are considered. The mechanisms by which these compounds cause intracerebral complications and their influence on prognosis are discussed. The incidence of intracerebral haemorrhage (ICH), ischaemic cerebral infarctions and subarachnoid haemorrhage (SAH) following drug abuse is increasing. Contrary to historical opinion, drug-related ICH is frequently related to an underlying vascular malformation. Arteriography should be part of the evaluation of most young patients with nontraumatic ICH. A thorough history focusing on the use of illicit substances and toxicological screening of urine and serum should be part of the evaluation of any young patient with a stroke.

A Case Report of Onyx Pulmonary Arterial Embolism Contributing to Hypoxemia During Awake Craniotomy for Arteriovenous Malformation Resection.

PubMed

Tolly, Brian T; Kosky, Jenna L; Koht, Antoun; Hemmer, Laura B

2017-02-15

A healthy 26-year-old man with cerebral arteriovenous malformation underwent staged endovascular embolization with Onyx followed by awake craniotomy for resection. The perioperative course was complicated by tachycardia and severe intraoperative hypoxemia requiring significant oxygen supplementation. Postoperative chest computed tomography (CT) revealed hyperattenuating Onyx embolization material within the pulmonary vasculature, and an electrocardiogram indicated possible right heart strain, supporting clinically significant embolism. With awake arteriovenous malformation resection following adjunctive Onyx embolization becoming increasingly employed for lesions involving the eloquent cortex, anesthesiologists need to be aware of pulmonary migration of Onyx material as a potential contributor to significant perioperative hypoxemia.

[Congenital portosystemic shunt. The Abernethy malformation].

PubMed

Avila, L F; Luis, A L; Encinas, J L; Hernández, F; Olivares, P; Fernández Cuadrado, J; Hierro, L; Jara, P; López Santamaría, M; Tovar, J A

2006-10-01

Congenital portosystemic shunt (CEPS) is a rare condition that was first reported by John Abernethy in 1793. Two types of CEPS are described: type I (side to end anastomosis) or congenital absence of the portal vein, and type II (side to side anastomosis) with portal vein supply partially conserved. Type I CEPS is usually seen in girls and associates multiple malformations as polysplenia, malrotation, and cardiac anomalies. Type II is even rarer with no sex preference and no malformations associated. Hepatic encephalopathy is a common complication of both types in adulthood. Liver transplantation is the only effective treatment for symptomatic type I CEPS. A therapeutic approach for type II could be surgical closure of the shunt. To analyse our experience in diagnosis and management of portosystemic shunts. We report 4 cases of CEPS (3 type I and 1 type II) diagnosed between January-1997 and March-2005 in our department. We present 4 patients with ages at diagnosis ranging from 0 to 28 months, 3 type I CEPS (2 boys and 1 girl) and 1 boy type II. The type I girl was prenatally diagnosed at 12 weeks of gestation. Initial clinical signs in type 1 boys were splenomegaly and hypersplenism, both with normal pondo-statural growth. No polysplenia or cardiac anomalies were assessed. One of them presented mild developmental delay, dismorphic features and facial telangiectasias. He had normal coagulation tests with chronic hepatic dysfunction (high transaminases) and regenerative nodular lesions were seen by imaging techniques. The other type I patient had hypoprothrombinemia, tendency to capillary bleeding (haematomas and epistaxis) with preserved liver function. Both patients have developed mild portal hypertension and present steatosis signs at liver biopsy. The type I girl presents a 21 trisomy and associates a cardiac anomaly (interauricular communication). Her hepatic function test are normal but liver calcifications can be seen by ultrasound. Type II child associates hypospadias but he has no clinical sigh or symptom related to the shunt. In our three cases diagnosis was suggested by conventional and Doppler ultrasound and confirmed by angio-resonance imaging. All our patients are included in a meticulous clinical and radiological follow-up with no need of surgical treatment for the shunt until now. Although diagnosis of these malformations could be casual we have to think about CEPS in children presenting unspecific liver disease. Magnetic angio-resonance imaging is actually the best diagnosis methods for CEPS. These patients have a high risk for developing hepatic encephalopathy and portal hypertension, so a careful follow-up is required although surgery is not usually needed until adulthood.

Complicated Pseudomeningocele Repair After Chiari Decompression: Case Report and Review of the Literature.

PubMed

De Tommasi, Claudio; Bond, Aaron E

2016-04-01

Pseudomeningocele is a recognised complication after posterior fossa decompression for Chiari malformation. Its management can be challenging and treatment options vary in literature. A difficult-to-treat case of a pseudomeningocele after posterior fossa decompression for a Chiari I malformation is presented. A 34-year-old woman underwent an initial decompression followed by multiple revision surgeries after the development of a symptomatic pseudomeningocele and a low-grade infection. Complications associated with standard treatment modalities, including lumbar drainage and dural repair, are discussed. A review of the existing literature is presented. The reported case ultimately required complete removal of all dural repair materials to eliminate the patient's low-grade infection, a muscular flap, and placement of a ventricular-peritoneal shunt for definitive treatment after a trial of a lumbar drain led to herniation and development of a syrinx. Copyright © 2016 Elsevier Inc. All rights reserved.

Ventricular myoarchitecture in tetralogy of Fallot.

PubMed Central

Sanchez-Quintana, D.; Anderson, R. H.; Ho, S. Y.

1996-01-01

BACKGROUND: Little attention has been paid to the architecture of the muscle fibres of the ventricular walls in congenitally malformed hearts. In this study the gross pattern of myocardial fibres in normal hearts was compared with that in cases of tetralogy of Fallot. METHODS AND RESULTS: After morphological examination nine specimens with tetralogy were dissected to study the ventricular myoarchitecture. Changes were found in the shape of the malformed ventricles. The ventricular walls were arranged in layers in all hearts. Superficial and deep layers were present in both ventricles, with the superficial layer showing a more oblique orientation in the specimens with tetralogy than in normal hearts. Modifications of muscle fibre that were related to the type of malformation were seen in the deep layer. A middle layer was present in the left ventricles of normal hearts and specimens with tetralogy: this showed a horizontal orientation in both groups. In contrast, a middle layer was found in the right ventricle only in specimens showing tetralogy. CONCLUSIONS: The malformed hearts showed modifications in ventricular shape, in the arrangement of muscle in the right ventricle, and in the overall myoarchitecture. These changes could well be the consequence of the same agent (or agents) that caused the structural defect. Images PMID:8868990

Unusual Systemic Artery to Pulmonary Artery Malformation Without Evidence of Systemic Disease, Trauma or Surgery

DOE Office of Scientific and Technical Information (OSTI.GOV)

Geyik, Serdar; Yavuz, Kivilcim; Keller, Frederick S.

2006-10-15

Connections between the systemic and pulmonary arterial systems are rare conditions that can be due to either congenital or acquired diseases such as anomalous systemic arterial supply to normal lung, pulmonary sequestration, and systemic supply to pulmonary arteriovenous malformations. Herein, a unique case of systemic artery to pulmonary arterial malformation and its endovascular treatment in a patient with no history of the usual etiologies is reported.

A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma.

PubMed

Okumura, Akihisa; Lee, Tsubasa; Ikeno, Mitsuru; Shimojima, Keiko; Kajino, Kazunori; Inoue, Yuka; Yoshikawa, Naomi; Suganuma, Hiroki; Suzuki, Mitsuyoshi; Hisata, Ken; Shoji, Hiromichi; Takanashi, Jun-ichi; Barkovich, A James; Shimizu, Toshiaki; Yamamoto, Toshiyuki; Hayashi, Masaharu

2012-11-01

Here we report a boy with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma. The patient had epidermal nevi and complicated brain malformations including macrocephaly with polymicrogyria, dysmorphic and enlarged midbrain tectum, enlarged cerebellar hemispheres with small and maloriented folia. The patient died after surgical resection of medulloblastoma which was newly recognized on MRI at 51 days of age. Postmortem pathological examinations showed very unique and bizarre malformation of the midbrain and hindbrain. The cerebellar cortex exhibited a coarse, irregular and bumpy surface, blurred border between the Purkinje cell layer and internal granule cell layer, and many foci of heterotopia in the cerebellar white matter. The brainstem showed multiple anomalies, including enlargement of superior colliculi, hypoplasia of pyramidal tracts and dysplasia of inferior olivary nuclei. The unusual constellation of brain malformations of our patient will widen the spectrum of epidermal nevus syndrome. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Cranial Nerve Palsy after Onyx Embolization as a Treatment for Cerebral Vascular Malformation

PubMed Central

Lee, Jong Min; Whang, Kum; Cho, Sung Min; Kim, Jong Yeon; Oh, Ji Woong; Koo, Youn Moo; Hu, Chul; Pyen, Jinsoo

2017-01-01

The Onyx liquid embolic system is a relatively safe and commonly used treatment for vascular malformations, such as arteriovenous fistulas and arteriovenous malformations. However, studies on possible complications after Onyx embolization in patients with vascular malformations are limited, and the occurrence of cranial nerve palsy is occasionally reported. Here we report the progress of two different types of cranial nerve palsy that can occur after embolization. In both cases, Onyx embolization was performed to treat vascular malformations and ipsilateral oculomotor and facial nerve palsies were observed. Both patients were treated with steroids and exhibited symptom improvement after several months. The most common types of neuropathy that can occur after Onyx embolization are facial nerve palsy and trigeminal neuralgia. Although the mechanisms underlying these neuropathies are not clear, they may involve traction injuries sustained while extracting the microcatheter, mass effects resulting from thrombi and edema, or Onyx reflux into the vasa nervorum. In most cases, the neuropathy spontaneously resolves several months following the procedure. PMID:29159152

Cranial Nerve Palsy after Onyx Embolization as a Treatment for Cerebral Vascular Malformation.

PubMed

Lee, Jong Min; Whang, Kum; Cho, Sung Min; Kim, Jong Yeon; Oh, Ji Woong; Koo, Youn Moo; Hu, Chul; Pyen, Jinsoo; Choi, Jong Wook

2017-09-01

The Onyx liquid embolic system is a relatively safe and commonly used treatment for vascular malformations, such as arteriovenous fistulas and arteriovenous malformations. However, studies on possible complications after Onyx embolization in patients with vascular malformations are limited, and the occurrence of cranial nerve palsy is occasionally reported. Here we report the progress of two different types of cranial nerve palsy that can occur after embolization. In both cases, Onyx embolization was performed to treat vascular malformations and ipsilateral oculomotor and facial nerve palsies were observed. Both patients were treated with steroids and exhibited symptom improvement after several months. The most common types of neuropathy that can occur after Onyx embolization are facial nerve palsy and trigeminal neuralgia. Although the mechanisms underlying these neuropathies are not clear, they may involve traction injuries sustained while extracting the microcatheter, mass effects resulting from thrombi and edema, or Onyx reflux into the vasa nervorum. In most cases, the neuropathy spontaneously resolves several months following the procedure.

Contemporary occurrence of hydrocephalus and Chiari I malformation in sagittal craniosynostosis. Case report and review of the literature.

PubMed

Sgulò, Francesco Giovanni; Spennato, Pietro; Aliberti, Ferdinando; Di Martino, Giuliana; Cascone, Daniele; Cinalli, Giuseppe

2017-01-01

Chiari malformation type I (CM-I) and hydrocephalus are often associated with complex craniosynostosis. On the contrary, their simultaneous occurrence in monosutural synostosis is extremely rare. The pathophysiological hypothesis is that they may alter posterior fossa growth and lead to cerebellar tonsil herniation also without skull base primary involvement. Hydrocephalus is multifactorial and may be secondary to fourth ventricle outlet obstruction. The management of these cases is quite complex and not well defined. Cranial vault remodeling should be the only treatment when CM-I is asymptomatic and not related to syringomyelia. Suboccipital decompression should be reserved only in complicated CM-I, usually as a second surgical step following the correction of the supratentorial deformity. In our opinion, the associated hydrocephalus should be treated first in order to normalize intracranial hypertension before opening the cranial sutures. We report the case of a 26-month-old child that presented with sagittal craniosynostosis, hydrocephalus, and CM-I. He was managed by performing endoscopic third ventriculostomy (ETV) first and cranial vault remodeling thereafter. Clinico-radiological outcome was very satisfying. Concerning literature is reviewed; physiopathology and surgical management are discussed.

Sella turcica morphology and the pituitary gland-a new contribution to craniofacial diagnostics based on histology and neuroradiology.

PubMed

Kjær, Inger

2015-02-01

The present review summarizes two decades of published and unpublished studies on normal and pathological development of sella turcica and pituitary gland in humans. The pathological conditions are studied in known genotype deviations, syndromes, and other malformations. The studies include histological analyses of human prenatal material and profile radiographic analyses of human postnatal material, supplemented in a few cases with neuroradiology. Prenatal and postnatal results are compared. Similarities between prenatal and postnatal deviations in sella turcica morphology were demonstrated. Malformations in the pituitary gland were observed in several cases. For diagnostic purposes, the review distinguishes between deviations in the anterior wall and in the posterior wall of the sella turcica. Deviations in the anterior wall seem to be associated with deviations specifically in the frontonasal developmental field, while deviations in the posterior wall are often connected with malformations in the posterior structures, e.g. the cerebellum. In normal cases, minor variations in morphology are observed. In each pathological case, a specific malformation pattern was observed in sella turcica morphology, varying from mild to severe phenotype. The malformation in the sella turcica/pituitary gland can be associated with a malformation within a developmental field that forms the craniofacial region (frontonasal, maxillary, palatal, and mandibular fields), sometimes also involving the brain stem, thymus, thyroid, and heart (velocardiofacial syndrome). Pathological sella turcica morphology can also be associated with malformations in the cerebellum and larynx (Cri-du-Chat syndrome). This review demonstrates the value of combining profile radiographic diagnostics with neuroradiological diagnostics in cases with malformed sella turcicae. © The Author 2012. Published by Oxford University Press on behalf of the European Orthodontic Society. All rights reserved. For permissions, please email: journals.permissions@oup.com.

Chronic hypertension in pregnancy and the risk of congenital malformations: a cohort study.

PubMed

Bateman, Brian T; Huybrechts, Krista F; Fischer, Michael A; Seely, Ellen W; Ecker, Jeffrey L; Oberg, Anna S; Franklin, Jessica M; Mogun, Helen; Hernandez-Diaz, Sonia

2015-03-01

Chronic hypertension is a common medical condition in pregnancy. The purpose of the study was to examine the association between maternal chronic hypertension and the risk of congenital malformations in the offspring. We defined a cohort of 878,126 completed pregnancies linked to infant medical records using the Medicaid Analytic Extract. The risk of congenital malformations was compared between normotensive controls and those with treated and untreated chronic hypertension. Confounding was addressed using propensity score matching. After matching, compared with normotensive controls, pregnancies complicated by treated chronic hypertension were at increased risk of congenital malformations (odds ratio [OR], 1.3; 95% confidence interval [CI], 1.2-1.5), as were pregnancies with untreated chronic hypertension (OR 1.2; 95% CI, 1.1-1.3). In our analysis of organ-specific malformations, both treated and untreated chronic hypertension was associated with a significant increase in the risk of cardiac malformations (OR, 1.6; 95% CI, 1.4-1.9 and OR, 1.5; 95% CI, 1.3-1.7, respectively). These associations persisted across a range of sensitivity analyses. There is a similar increase in the risk of congenital malformations (particularly cardiac malformations) associated with treated and untreated chronic hypertension that is independent of measured confounders. Studies evaluating the teratogenic potential of antihypertensive medications must control for confounding by indication. Fetuses and neonates of mothers with chronic hypertension should be carefully evaluated for potential malformations, particularly cardiac defects. Copyright © 2015 Elsevier Inc. All rights reserved.

[Intestinal volvulus due to yeyunal duplication].

PubMed

Rodríguez Iglesias, P; Carazo Palacios, M E; Lluna González, J; Ibáñez Pradas, V; Rodríguez Caraballo, L

2014-10-01

Duplications of the alimentary tract are congenital malformations. The ileum is the most commonly affected organ. A lot of duplications are incidentally diagnosed but most of patients present a combination of pain or complications such as obstructive symptoms, intestinal intussusception, perforation or volvulus. We report the case of a 6-years-old girl, with intermittent abdominal pain and vomits for two months long. Laboratory work was completely normal and in the radiology analysis (abdominal sonography and magnetic resonance) a cystic image with intestinal volvulus was observed. The patient underwent laparotomy, Ladd's procedure was done and the cyst was resected. In conclusion, if a patient is admitted with abdominal pain and obstructive symptoms, it is important to consider duplication of the alimentary tract as a possible diagnosis.

[Urethroplasty in hypoplastic-dysplastic corpus spongiosum and short urethra].

PubMed

Vitarelli, Antonio; Divenuto, Lucia; Altomare, Mauro; Masiello, Giuseppe; Pagliarulo, Arcangelo

2013-01-01

Congenital penile curvature and chordee are a rare malformative condition most frequently associated with hypospadias, but varying degrees of penile curvature are observed with an orthotopic meatus. Disease becomes evident after puberty, when curvature becomes more apparent with erection. We present a case of a young man (16 years old), with ventral congenital penile curvature without hypospadias and with hypoplastic-dysplastic corpus spongiosum and short urethra, who could not have normal sexual intercourses. The patient underwent first-stage urethroplasty with urethral opening and graft of buccal mucosa and creation of a temporary hypospadic meatus. No post-operative complications were observed. There were no residual penile curvatures. Results are promising and satisfactory after the first surgical stage and provide a solid ground for the final reconstruction.

Hemifacial spasm associated with type 1 Chiari malformation: a retrospective study of 13 cases.

PubMed

Li, Ning; Zhao, Wei-Guo; Pu, Chun-Hua; Yang, Wen-Lei

2017-04-01

Hemifacial spasm (HFS) associated with type 1 Chiari malformation is particularly uncommon and is limited to isolated case report. The aims of this study were to report the clinical correlates of patients who had simultaneously HFS and type 1 Chiari malformation and to present the outcome of these patients treated with microvascular decompression (MVD) surgery. We retrospectively evaluated 13 patients who had simultaneously HFS and type 1 Chiari malformation among 675 HFS patients. Clinical features and radiological findings were collected from each patient and analyzed. All these 13 patients were surgically treated with MVD through retro-mastoid microsurgical approach, and postoperative outcomes were evaluated. A review of literature about this association was also provided. In this study, the frequency of type 1 Chiari malformation in HFS patients was 1.9 %. The clinical profile of this series of patients did not differ from typical form of primary HFS. MVD achieved satisfactory results in 11 patients (85 %) in short- and long-term follow-up. There was no mortality or severe complication occurred postoperatively. Although rare, clinician should be aware of the association of HFS and type 1 Chiari malformation and consider MVD as an effective surgical management.

Vascular anomalies: classification, imaging characteristics and implications for interventional radiology treatment approaches

PubMed Central

Prajapati, H J S; Martin, L G; Patel, T H

2014-01-01

The term vascular anomaly represents a broad spectrum of vascular pathology, including proliferating vascular tumours and vascular malformations. While the treatment of most vascular anomalies is multifactorial, interventional radiology procedures, including embolic therapy, sclerotherapy and laser coagulation among others, are playing an increasingly important role in vascular anomaly management. This review discusses the diagnosis and treatment of common vascular malformations, with emphasis on the technique, efficacy and complications of different interventional radiology procedures. PMID:24588666

Insulin Glulisine in Pregnancy – Experience from Clinical Trials and Post-marketing Surveillance

PubMed Central

Vanechanos, Demi; Oster, Manfred; Landgraf, Wolfgang; Lin, Stephen

2015-01-01

Abstract Pregnancies complicated by gestational diabetes or pre-existing type 1 or type 2 diabetes mellitus are associated with a higher rate of adverse outcomes compared with pregnancies in the background population. These outcomes include miscarriage, pre-term delivery, pre-eclampsia, perinatal mortality and congenital malformations. Insulin glulisine (Apidra®, Sanofi) is a rapid-acting insulin analogue indicated for the treatment of adults, adolescents and children 6 years or older with diabetes mellitus where treatment with insulin is required. Here, all post-marketing and clinical trials safety data with insulin glulisine in pregnancy available to Sanofi up to June 2014 are summarised together with the findings of a comprehensive literature search. Cumulatively, a total of 303 pregnancy exposures to insulin glulisine were received. Of these 303 pregnancy exposures, there were 116 live births, 12 spontaneous abortions, two late foetal intra-uterine deaths (>28 weeks), three elective abortions and 170 cases without a known pregnancy outcome. There were six cases of congenital malformations; of these, there were five live births; in the other case a live birth was not confirmed. The congenital malformations reported to date do not reveal a pattern of defects. In conclusion, the evidence to date does not suggest a causal association between insulin glulisine and an increased risk of pregnancy complications or congenital malformations. PMID:29632561

Evaluation of the Normal Cochlear Second Interscalar Ridge Angle and Depth on 3D T2-Weighted Images: A Tool for the Diagnosis of Scala Communis and Incomplete Partition Type II.

PubMed

Booth, T N; Wick, C; Clarke, R; Kutz, J W; Medina, M; Gorsage, D; Xi, Y; Isaacson, B

2018-05-01

Cochlear malformations may be be subtle on imaging studies. The purpose of this study was to evaluate the angle and depth of the lateral second interscalar ridge or notch in ears without sensorineural hearing loss (normal ears) and compare them with ears that have a documented incomplete type II partition malformation. The second interscalar ridge notch angle and depth were measured on MR imaging in normal ears by a single experienced neuroradiologist. The images of normal and incomplete partition II malformation ears were then randomly mixed for 2 novice evaluators to measure both the second interscalar ridge notch angle and depth in a blinded manner. For the mixed group, interobserver agreement was calculated, normal and abnormal ear measurements were compared, and receiver operating characteristic curves were generated. The 94 normal ears had a mean second interscalar ridge angle of 80.86° ± 11.4° and depth of 0.54 ± 0.14 mm with the 98th percentile for an angle of 101° and a depth of 0.3 mm. In the mixed group, agreement between the 2 readers was excellent, with significant differences for angle and depth found between normal and incomplete partition type II ears for angle and depth on average ( P < .001). Receiver operating characteristic cutoffs for delineating normal from abnormal ears were similar for both readers (depth, 0.31/0.34 mm; angle, 114°/104°). A measured angle of >114° and a depth of the second interscalar ridge notch of ≤0.31 mm suggest the diagnosis of incomplete partition type II malformation and scala communis. These measurements can be accurately made by novice readers. © 2018 by American Journal of Neuroradiology.

Developmental and perinatal brain diseases.

PubMed

Adle-Biassette, Homa; Golden, Jeffery A; Harding, Brian

2017-01-01

This chapter briefly describes the normal development of the nervous system, the neuropathology and pathophysiology of acquired and secondary disorders affecting the embryo, fetus, and child. They include CNS manifestations of chromosomal change; forebrain patterning defects; disorders of the brain size; cell migration and specification disorders; cerebellum, hindbrain and spinal patterning defects; hydrocephalus; secondary malformations and destructive pathologies; vascular malformations; arachnoid cysts and infectious diseases. The distinction between malformations and disruptions is important for pathogenesis and genetic counseling. Copyright © 2017 Elsevier B.V. All rights reserved.

A Developmental and Genetic Classification for Malformations of Cortical Development: Update 2012

ERIC Educational Resources Information Center

Barkovich, A. James; Guerrini, Renzo; Kuzniecky, Ruben I.; Jackson, Graeme D.; Dobyns, William B.

2012-01-01

Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain development and its perturbations. The rapid recent evolution of molecular biology, genetics…

Early outcomes and periprocedural complications of transarterial embolization of brain arteriovenous malformations with Onyx®.

PubMed

Poncyljusz, Wojciech; Sawicki, Marcin; Lubkowska, Katarzyna; Rać, Monika

Brain arteriovenous malformation (BAVM) is a rare pathology diagnosed mostly in young adults. However, due to its hemorrhagic complications, it constitutes an important clinical problem. Treatment modalities available include endovascular, surgery and radiosurgery. The aim of the study was to assess the efficacy and safety of endovascular treatment of BAVM with Onyx ® by reporting one-center experience. Between 2006 and 2013, 54 patients with BAVM were embolized with Onyx. The group consisted of 24 males and 30 females, aged 10 to 65 years (mean 42.6±15.4). Clinical manifestations of BAVMs were: hemorrhage in 27 (50.0%), headaches in 12 (22.2%), seizures in 7 (13.0%) and focal neurologic deficits in 2 (3.7%) patients. Six (11.1%) patients were asymptomatic. A majority of BAVMs were of II and III grade in Spetzler-Martin scale (19 and 22 cases respectively). A total number of 108 endovascular procedures were performed (mean 2.00±0.98 sessions/patient). Complete obliteration of malformation was achieved in 25 (46.3%) patients, mostly with grade II and III BAVMs. In 29 (53.7%) patients, embolization led to a decrease in size of BAVM that made it feasible for other treatment modality. Morbidity and mortality rates were 5.6% and 1.8% respectively. The rate of hemorrhagic complications was 9.3%. Embolization of BAVM with Onyx ® is an effective and safe method of treatment. However, regarding type and consequences of complications, the technique needs further improvement. Copyright © 2017 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

Sclerotherapy of voluminous venous malformation in head and neck with absolute ethanol under digital subtraction angiography guidance.

PubMed

Wang, Y A; Zheng, J W; Zhu, H G; Ye, W M; He, Y; Zhang, Z Y

2010-06-01

Venous malformation (VM) is the most common symptomatic low-flow vascular malformation, which predominantly occurs in the head and neck region. The aim of this paper was to evaluate the results of endovascular sclerotherapy of voluminous VM, when the lesion is either >or=15 cm in maximum diameter or the lesion invades more than one anatomical space, in the head and neck region using absolute ethanol under digital subtraction angiography (DSA) guidance. A total of 23 patients with head and neck VMs between October 2005 and December 2008 were retrospectively reviewed. All patients received direct puncture ethanol sclerotherapy under DSA guidance. Follow-up assessments were performed at 3-25 months after therapies were completed, and complications were reported in some cases. All patients were satisfied with the results of therapy. Seventeen patients (73.9%) achieved excellent responses and six patients (26.1%) achieved good responses in magnetic resonance imaging assessments. Minor complications developed during the procedures, all of which were successfully managed with full recovery during follow-ups. Serious complications such as acute pulmonary hypertension, cardiovascular collapse and pulmonary embolism were not encountered. It is concluded that sclerotherapy with absolute ethanol under DSA guidance is an important alternative therapy for voluminous and extensive VM, as the procedure is reasonably safe and offers good therapeutic results.

Diabetic management in high risk patients (pregnancy, insulin pumps).

PubMed

Vanhaverbeke, G; Mertens, A; Mathieu, C

2004-01-01

During the past decades our understanding about the clinical impact of diabetes has changed. We now know for certain that a good (read : near normal) glycemic control is necessary to prevent chronic complications of this disease in women regardless of the type of diabetes. Pregnancy is a specific situation whereby a "near normal" control is wanted not only for the patient but also for the fetus. Several studies have shown a correlation beween glycemic control and complications of pregnancy. Reaching optimal glycemic control is mandatory even before the pregnancy starts, considering the time window of occurance of the severe foetal congenital malformations (first weeks of pregnancy). The role of pre-conception care is emphasized. Optimal control in type 1 and type 2 diabetic patients can best be reached through intensive insulin therapy, but reaching normoglycemia is mainly limited by the occurence of hypoglycemia. The introduction of the new insulin analogues is an important step in our arsenal to achieve control using multiple daily insulin injections, but Novorapid and Lantus have not yet been approved for use in pregnancy. Insulin pumps are often used in pregnant patients, allowing an even better glycemic control with less hypoglycemia. An absolute requirement for CSII therapy to be successful is patient education and motivation by an experienced team.

Angiotensin-Converting Enzyme Inhibitors and the Risk of Congenital Malformations

PubMed Central

Bateman, Brian T; Patorno, Elisabetta; Desai, Rishi J; Seely, Ellen W; Mogun, Helen; Dejene, Sara Z; Fischer, Michael A; Friedman, Alexander M; Hernandez-Diaz, Sonia; Huybrechts, Krista F

2016-01-01

Objective To examine the association between first-trimester angiotensin-converting enzyme (ACE) inhibitor exposure and the risk for overall major congenital, cardiac, and central nervous system (CNS) malformations. Methods We used a cohort of completed pregnancies linked to liveborn infants derived from Medicaid claims from 2000 to 2010. We examined the risk of malformations associated with first-trimester exposure to an ACE inhibitor. Propensity score based methods were used to control for potential confounders including maternal demographics, medical conditions, exposure to other medications, and measures of health care utilization. Results The cohort included 1,333,624 pregnancies, of which 4,107 (0.31%) were exposed to ACE inhibitors during the first trimester. The prevalence of overall malformations in the ACE inhibitor–exposed was 5.9% versus 3.3% in the unexposed (unadjusted relative risk (RR), 1.82; 95% confidence interval (CI) 1.61 to 2.06), of cardiac malformations was 3.4% versus 1.2% (RR 2.95; 95% CI 2.50 to 3.47), and of CNS malformations was 0.27% versus 0.18% (RR 1.46; 95% CI 0.81 to 2.64). After restricting the cohort to pregnancies complicated by chronic hypertension (both exposed and unexposed) and accounting for other confounding factors, there was no significant increase in the risk for any of the outcomes assessed. Relative risks associated with first-trimester ACE inhibitor exposure were 0.89 (95% CI 0.75 to 1.06) for overall malformations, 0.95 (95% CI 0.75 to 1.21) for cardiac malformations, and 0.54 (95% CI 0.26 to 1.11) for CNS malformations. Conclusions After accounting for confounders, among women with hypertension, exposure to ACE inhibitors during the first trimester was not associated with an increased risk of major congenital malformations. PMID:27926639

Angiotensin-Converting Enzyme Inhibitors and the Risk of Congenital Malformations.

PubMed

Bateman, Brian T; Patorno, Elisabetta; Desai, Rishi J; Seely, Ellen W; Mogun, Helen; Dejene, Sara Z; Fischer, Michael A; Friedman, Alexander M; Hernandez-Diaz, Sonia; Huybrechts, Krista F

2017-01-01

To examine the association between first-trimester angiotensin-converting enzyme (ACE) inhibitor exposure and the risk of overall major congenital, cardiac, and central nervous system malformations. We used a cohort of completed pregnancies linked to liveborn neonates derived from Medicaid claims from 2000 to 2010. We examined the risk of malformations associated with first-trimester exposure to an ACE inhibitor. Propensity score-based methods were used to control for potential confounders including maternal demographics, medical conditions, exposure to other medications, and measures of health care utilization. The cohort included 1,333,624 pregnancies, of which 4,107 (0.31%) were exposed to ACE inhibitors during the first trimester. The prevalence of overall malformations in the ACE inhibitor-exposed pregnancies was 5.9% compared with 3.3% in the unexposed (unadjusted relative risk, 1.82; 95% confidence interval [CI] 1.61-2.06), of cardiac malformations was 3.4% compared with 1.2% (relative risk 2.95, 95% CI 2.50-3.47), and of central nervous system malformations was 0.27% compared with 0.18% (relative risk 1.46, 95% CI 0.81-2.64). After restricting the cohort to pregnancies complicated by chronic hypertension (both exposed and unexposed) and accounting for other confounding factors, there was no significant increase in the risk of any of the outcomes assessed. Relative risks associated with first-trimester ACE inhibitor exposure were 0.89 (95% CI 0.75-1.06) for overall malformations, 0.95 (95% CI 0.75-1.21) for cardiac malformations, and 0.54 (95% CI 0.26-1.11) for CNS malformations. After accounting for confounders, among women with hypertension, exposure to ACE inhibitors during the first trimester was not associated with an increased risk of major congenital malformations.

Jarcho-Levin syndrome presenting with diaphragmatic hernia.

PubMed

Onay, O S; Kinik, S T; Otgün, Y; Arda, I S; Varan, B

2008-08-01

Jarcho-Levin syndrome (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple vertebral anomalies. The prognosis is directly related to respiratory complications. Reported findings associated with Jarcho-Levin syndrome include congenital heart defects, abdominal wall malformations, genitourinary malformations, upper limb anomalies, and neural tube defects. We report on a 6-day-old girl who presented with an incomplete form of Jarcho-Levin syndrome with late-presenting congenital diaphragmatic hernia and congenital heart disease.

CARDIO-VASCULAR MALFORMATIONS PROVOKED IN THE CHICKEN AFTER IRRADIATION WITH X RAYS OF THE EMBRYONIC REGION LOCATED BEHIND THE HEART RUDIMENT (in French)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Le Douarin, N.

BS>The x-ray destruction of the embryonic region intended to form the neck modifies the topographic ratios of the cardiac rudiment, causing a constraint in the normal pattem of morphogenetic movements. Malformations of the heart and the arterial trunks result. The cardio-vascular malformations are, moreover, more frequent and significant when the anterior radiation level is nearer the heart and when the region destroyed is wider. The vascular anomalies concern generally the brachiocephalic trunks and less frequently the aortal bend. The heart malformations affect the rotation of the arterial bud and the achievement of cardiac partitioning. (tr-auth)

Use of the TriSpan Coil to Facilitate the Transcatheter Occlusion of Pulmonary Arteriovenous Malformation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cil, Barbaros E., E-mail: barbaroscil@hotmail.com, E-mail: barbaros@hacettepe.edu.tr; Erdogan, Cueneyt; Akmangit, Ilkay

Pulmonary arteriovenous malformation (PAVM) is a rare vascular malformation of the lung which may occur as an isolated entity or in association with hereditary hemorrhagic telangiectasia (HHT). Because of considerable risk of serious complications such as cerebral embolism, brain abscess and pulmonary hemorrhage, definitive treatment should be considered in most patients. Embolization with coils or detachable balloons is currently the preferred treatment. Paradoxical embolization of coils and balloons may happen, especially in patients with PAVMs with large feeding arteries. In this report we present our initial experience with the use of the TriSpan coil to lower the risk of coilmore » migration during the transcatheter occlusion of PAVMs.« less

Incidence and impact of axial malformations in larval bullfrogs (Rana catesbeiana) developing in sites polluted by a coal-burning power plant

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hopkins, W.A.; Congdon, J.; Ray, J.K.

2000-04-01

Amphibian malformations have recently received much attention from the scientific community, but few studies have provided evidence linking environmental pollution to larval amphibian malformations in the field. The authors document an increased incidence of axial malformations in bullfrog larvae (Rana catesbeiana) inhabiting two sites contaminated with coal combustion wastes. In the polluted sites, 18 and 37% of larvae exhibited lateral curvatures of the spine, whereas zero and 4% of larvae from two reference sites had similar malformations. Larvae from the most heavily polluted site had significantly higher tissue concentrations of potentially toxic trace elements, including As, Cd, Se, Cu, Cr,more » and V, compared with conspecifics from the reference sites. In addition, malformed larvae from the cost contaminated site had decreased swimming speeds compared with those of normal larvae from the same site. The authors hypothesize that the complex mixture of contaminants produced by coal combustion is responsible for the high incidence of malformations and associated effects on swimming performance.« less

Progesterone receptors identified in vascular malformations of the head and neck.

PubMed

Duyka, Landon J; Fan, Chun Y; Coviello-Malle, Jean M; Buckmiller, Lisa; Suen, James Y

2009-10-01

To identify hormone receptors within vascular malformations (arteriovenous malformations [AVMs], venous malformations [VMs], and lymphatic malformations [LMs]) of the head and neck. Immunohistochemical staining for estrogen receptor (ER) and progesterone receptor (PR) was performed on archival vascular malformation tissue collected from both pediatric and adult patients. Tertiary referral center from 2006 to 2008. Twelve AVM, 10 VM, and eight LM specimens were stained for both ER and PR. Ten breast carcinoma specimens were used as controls, with the carcinoma cells serving as positive controls, and the endothelium and smooth muscle cells of the blood vessels serving as negative controls. Five normal supraglottic mucosal samples served as head and neck controls. The Fisher exact test was used for statistical analysis. Ten of the 12 (83%) AVM specimens stained diffusely positive for PR within the nuclei of the endothelium and smooth muscle of the malformed vessels (P < 0.0001). Five of the 10 (50%) VM specimens stained positive for PR (2 [20%] focal, 3 [30%] diffuse) within the nuclei of the endothelium and smooth muscle of the malformed vessels (P = 0.0325). Four of the eight (50%) LM specimens stained focally positive for PR within the nuclei of the endothelium of the malformed vessels (P = 0.0229). None of the vascular malformation specimens stained positive for ER. Our data suggest that PR, but not ER, is expressed in AVMs, VMs, and LMs of the head and neck.

MR and CT imaging of pulmonary valved conduits in children and adolescents: normal appearance and complications.

PubMed

Tenisch, Estelle V; Alamo, Leonor T; Sekarski, Nicole; Hurni, Michel; Gudinchet, François

2014-12-01

The Contegra® is a conduit made from the bovine jugular vein and then interposed between the right ventricle and the pulmonary artery. It is used for cardiac malformations in the reconstruction of right ventricular outflow tract. To describe both normal and pathological appearances of the Contegra® in radiological imaging, to describe imaging of complications and to define the role of CT and MRI in postoperative follow-up. Forty-three examinations of 24 patients (17 boys and 7 girls; mean age: 10.8 years old) with Contegra® conduits were reviewed. Anatomical description and measurements of the conduits were performed. Pathological items examined included stenosis, dilatation, plicature or twist, thrombus or vegetations, calcifications and valvular regurgitation. Findings were correlated to the echographic gradient through the conduit when available. CT and MR work-up showed Contegra® stenosis (n = 12), dilatation (n = 9) and plicature or twist (n = 7). CT displayed thrombus or vegetations in the Contegra® in three clinically infected patients. Calcifications of the conduit were present at CT in 12 patients and valvular regurgitation in three patients. The comparison between CT and/or MR results showed a good correlation between the echographic gradient and the presence of stenosis in the Contegra®. CT and MR bring additional information about permeability and postoperative anatomy especially when echocardiography is inconclusive. Both techniques depict the normal appearance of the conduit, and allow comparison and precise evaluation of changes in the postoperative follow-up.

An optimal set of landmarks for metopic craniosynostosis diagnosis from shape analysis of pediatric CT scans of the head

NASA Astrophysics Data System (ADS)

Mendoza, Carlos S.; Safdar, Nabile; Myers, Emmarie; Kittisarapong, Tanakorn; Rogers, Gary F.; Linguraru, Marius George

2013-02-01

Craniosynostosis (premature fusion of skull sutures) is a severe condition present in one of every 2000 newborns. Metopic craniosynostosis, accounting for 20-27% of cases, is diagnosed qualitatively in terms of skull shape abnormality, a subjective call of the surgeon. In this paper we introduce a new quantitative diagnostic feature for metopic craniosynostosis derived optimally from shape analysis of CT scans of the skull. We built a robust shape analysis pipeline that is capable of obtaining local shape differences in comparison to normal anatomy. Spatial normalization using 7-degree-of-freedom registration of the base of the skull is followed by a novel bone labeling strategy based on graph-cuts according to labeling priors. The statistical shape model built from 94 normal subjects allows matching a patient's anatomy to its most similar normal subject. Subsequently, the computation of local malformations from a normal subject allows characterization of the points of maximum malformation on each of the frontal bones adjacent to the metopic suture, and on the suture itself. Our results show that the malformations at these locations vary significantly (p<0.001) between abnormal/normal subjects and that an accurate diagnosis can be achieved using linear regression from these automatic measurements with an area under the curve for the receiver operating characteristic of 0.97.

Transjugular intrahepatic portosystemic shunt with accidental diagnosis of persistence of the left superior vena cava.

PubMed

Petridis, Ioannis; Miraglia, Roberto; Marrone, Gianluca; Gruttadauria, Salvatore; Luca, Angelo; Vizzini, Giovanni Battista; Gridelli, Bruno

2010-03-07

Transjugular intrahepatic portosystemic shunt (TIPSS) is considered a valid therapeutic option for the treatment of portal hypertension and its complications. The guidelines for this procedure have already been established on the basis of the normal vascular anatomy and of various technical radiological aspects. In some few rare cases, diagnosis of a congenital vascular anomaly can be made accidentally by interventional radiologists, making the procedure of the TIPSS placement extremely difficult or in some cases technically impossible. This report describes a rare vascular malformation characterized by the absence of the right superior vena cava and persistence of the left superior vena cava in a patient with a diagnosis of advanced liver cirrhosis who needed a TIPSS placement in order to control refractory ascites.

Congenital heart defects in newborns with apparently isolated single gastrointestinal malformation: A retrospective study.

PubMed

Schierz, Ingrid Anne Mandy; Pinello, Giuseppa; Giuffrè, Mario; La Placa, Simona; Piro, Ettore; Corsello, Giovanni

2016-12-01

Congenital gastrointestinal system malformations/abdominal wall defects (GISM) may appear as isolated defects (single or complex), or in association with multiple malformations. The high incidence of association of GISM and congenital heart defects (CHD) in patients with syndromes and malformative sequences is known, but less expected is the association of apparently isolated single GISM and CHD. The aim of this study was to investigate the frequency of CHD in newborns with isolated GISM, and the possibility to modify the diagnostic-therapeutic approach just before the onset of cardiac symptoms or complications. Anamnestic, clinical, and imaging data of newborns requiring abdominal surgery for GISM, between 2009 and 2014, were compared with a control group of healthy newborns. Distribution of GISM and cardiovascular abnormalities were analyzed, and risk factors for adverse outcomes were identified. Seventy-one newborns with isolated GISM were included in this study. More frequent GISM were intestinal rotation and fixation disorders. CHD were observed in 15.5% of patients, augmenting their risk for morbidity. Risk factors for morbidity related to sepsis were identified in central venous catheter, intestinal stoma, and H2-inhibitor-drugs. Moreover, 28.2% of newborns presented only functional cardiac disorders but an unexpectedly higher mortality. The high incidence of congenital heart disease in infants with apparently isolated GISM confirms the need to perform an echocardiographic study before surgery to improve perioperative management and prevent complications such as sepsis and endocarditis. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Loop versus divided colostomy for the management of anorectal malformations.

PubMed

Oda, Omar; Davies, Dafydd; Colapinto, Kimberly; Gerstle, J Ted

2014-01-01

The purpose of this study was to compare the clinical outcomes of loop and divided colostomies in patients with anorectal malformations (ARM). We performed a retrospective cohort study reviewing the medical records of all patients with ARM managed with diverting colostomies between 2000 and 2010 at our institution. Independent variables and outcomes of stoma complications were analyzed by parametric measures and logistic regression. One hundred forty-four patients managed with a colostomy for ARM were evaluated (37.5% females, 50.7% loop, 49.3% divided). The incidence of patients with loop and divided colostomies who developed stoma-related complications was 31.5 and 15.5%, respectively (p=0.031). The incidence of prolapse was 17.8 and 2.8%, respectively (p=0.005). Multivariable-logistic regression controlling for other significant independent variables found loop colostomies to be positively associated with the development of a stoma complication (OR 3.13, 95%CI (1.09, 8.96), p=0.033). When individual complications were evaluated, it was only stoma prolapse that was more likely in patients with loop colostomies (OR 8.75, 95%CI (1.74, 44.16), p=0.009). Because of the higher incidence of prolapse, loop colostomies were found to be associated with a higher total incidence of complications than divided stomas. The development of other complications, including urinary tract infections (UTIs) and megarectum, were independent of the type of colostomy performed. © 2014.

Classification of Newborn Ear Malformations and their Treatment with the EarWell Infant Ear Correction System.

PubMed

Daniali, Lily N; Rezzadeh, Kameron; Shell, Cheryl; Trovato, Matthew; Ha, Richard; Byrd, H Steve

2017-03-01

A single practice's treatment protocol and outcomes following molding therapy on newborn ear deformations and malformations with the EarWell Infant Ear Correction System were reviewed. A classification system for grading the severity of constricted ear malformations was created on the basis of anatomical findings. A retrospective chart/photograph review of a consecutive series of infants treated with the EarWell System from 2011 to 2014 was undertaken. The infants were placed in either deformation or malformation groups. Three classes of malformation were identified. Data regarding treatment induction, duration of treatment, and quality of outcome were collected for all study patients. One hundred seventy-five infant ear malformations and 303 infant ear deformities were treated with the EarWell System. The average age at initiation of treatment was 12 days; the mean duration of treatment was 37 days. An average of six office visits was required. Treated malformations included constricted ears [172 ears (98 percent)] and cryptotia [three ears (2 percent)]. Cup ear (34 ears) was considered a constricted malformation, in contrast to the prominent ear deformity. Constricted ears were assigned to one of three classes, with each subsequent class indicating increasing severity: class I, 77 ears (45 percent); class II, 81 ears (47 percent); and class III, 14 ears (8 percent). Molding therapy with the EarWell System reduced the severity by an average of 1.2 points (p < 0.01). Complications included minor superficial excoriations and abrasions. The EarWell System was shown to be effective in eliminating or reducing the need for surgery in all but the most severe malformations. Therapeutic, IV.

The odontoid process invagination in normal subjects, Chiari malformation and Basilar invagination patients: Pathophysiologic correlations with angular craniometry

PubMed Central

Ferreira, Jânio A.; Botelho, Ricardo V.

2015-01-01

Background: Craniometric studies have shown that both Chiari malformation (CM) and basilar invagination (BI) belong to a spectrum of malformations. A more precise method to differentiate between these types of CVJM is desirable. The Chamberlain's line violation (CLV) is the most common method to identify BI. The authors sought to clarify the real importance of CLV in the spectrum of craniovertebral junction malformations (CVJM) and to identify possible pathophysiological relationships. Methods: We evaluated the CLV in a sample of CVJM, BI, CM patients and a control group of normal subjects and correlated their data with craniocervical angular craniometry. Results: A total of 97 subjects were studied: 32 normal subjects, 41 CM patients, 9 basilar invagination type 1 (BI1) patients, and 15 basilar invagination type 2 (BI2) patients. The mean CLV violation in the groups were: The control group, 0.16 ± 0.45 cm; the CM group, 0.32 ± 0.48 cm; the BI1 group, 1.35 ± 0.5 cm; and the BI2 group, 1.98 ± 0.18 cm. There was strong correlation between CLV and Boogard's angle (R = 0.82, P = 0.000) and the clivus canal angle (R = 0.7, P = 0.000). Conclusions: CM's CLV is discrete and similar to the normal subjects. BI1 and BI2 presented with at least of 0.95 cm CLV and these violations were strongly correlated with a primary cranial angulation (clivus horizontalization) and an acute clivus canal angle (a secondary craniocervical angle). PMID:26229733

The odontoid process invagination in normal subjects, Chiari malformation and Basilar invagination patients: Pathophysiologic correlations with angular craniometry.

PubMed

Ferreira, Jânio A; Botelho, Ricardo V

2015-01-01

Craniometric studies have shown that both Chiari malformation (CM) and basilar invagination (BI) belong to a spectrum of malformations. A more precise method to differentiate between these types of CVJM is desirable. The Chamberlain's line violation (CLV) is the most common method to identify BI. The authors sought to clarify the real importance of CLV in the spectrum of craniovertebral junction malformations (CVJM) and to identify possible pathophysiological relationships. We evaluated the CLV in a sample of CVJM, BI, CM patients and a control group of normal subjects and correlated their data with craniocervical angular craniometry. A total of 97 subjects were studied: 32 normal subjects, 41 CM patients, 9 basilar invagination type 1 (BI1) patients, and 15 basilar invagination type 2 (BI2) patients. The mean CLV violation in the groups were: The control group, 0.16 ± 0.45 cm; the CM group, 0.32 ± 0.48 cm; the BI1 group, 1.35 ± 0.5 cm; and the BI2 group, 1.98 ± 0.18 cm. There was strong correlation between CLV and Boogard's angle (R = 0.82, P = 0.000) and the clivus canal angle (R = 0.7, P = 0.000). CM's CLV is discrete and similar to the normal subjects. BI1 and BI2 presented with at least of 0.95 cm CLV and these violations were strongly correlated with a primary cranial angulation (clivus horizontalization) and an acute clivus canal angle (a secondary craniocervical angle).

Disease and the extended phenotype: parasites control host performance and survival through induced changes in body plan.

PubMed

Goodman, Brett A; Johnson, Pieter T J

2011-01-01

By definition, parasites harm their hosts. However, some forms of parasite-induced alterations increase parasite transmission between hosts, such that manipulated hosts can be considered extensions of the parasite's phenotype. While well accepted in principle, surprisingly few studies have quantified how parasite manipulations alter host performance and survival under field and laboratory conditions. By interfering with limb development, the trematode Ribeiroia ondatrae causes particularly severe morphological alterations within amphibian hosts that provide an ideal system to evaluate parasite-induced changes in phenotype. Here, we coupled laboratory performance trials with a capture-mark-recapture study of 1388 Pacific chorus frogs (Pseudacris regilla) to quantify the effects of parasite-induced malformations on host locomotion, foraging, and survival. Malformations, which affected ∼ 50% of metamorphosing frogs in nature, caused dramatic reductions in all measures of organismal function. Malformed frogs exhibited significantly shorter jumping distances (41% reduction), slower swimming speeds (37% reduction), reduced endurance (66% reduction), and lower foraging success relative to infected hosts without malformations. Furthermore, while normal and malformed individuals had comparable survival within predator-free exclosures, deformed frogs in natural populations had 22% lower biweekly survival than normal frogs and rarely recruited to the adult population over a two-year period. Our results highlight the ability of parasites to deeply alter multiple dimensions of host phenotype with important consequences for performance and survival. These patterns were best explained by malformation status, rather than infection per se, helping to decouple the direct and indirect effects of parasitism on host fitness.

Disease and the Extended Phenotype: Parasites Control Host Performance and Survival through Induced Changes in Body Plan

PubMed Central

Goodman, Brett A.; Johnson, Pieter T. J.

2011-01-01

Background By definition, parasites harm their hosts. However, some forms of parasite-induced alterations increase parasite transmission between hosts, such that manipulated hosts can be considered extensions of the parasite's phenotype. While well accepted in principle, surprisingly few studies have quantified how parasite manipulations alter host performance and survival under field and laboratory conditions. Methodology/Principal Findings By interfering with limb development, the trematode Ribeiroia ondatrae causes particularly severe morphological alterations within amphibian hosts that provide an ideal system to evaluate parasite-induced changes in phenotype. Here, we coupled laboratory performance trials with a capture-mark-recapture study of 1388 Pacific chorus frogs (Pseudacris regilla) to quantify the effects of parasite-induced malformations on host locomotion, foraging, and survival. Malformations, which affected ∼50% of metamorphosing frogs in nature, caused dramatic reductions in all measures of organismal function. Malformed frogs exhibited significantly shorter jumping distances (41% reduction), slower swimming speeds (37% reduction), reduced endurance (66% reduction), and lower foraging success relative to infected hosts without malformations. Furthermore, while normal and malformed individuals had comparable survival within predator-free exclosures, deformed frogs in natural populations had 22% lower biweekly survival than normal frogs and rarely recruited to the adult population over a two-year period. Conclusions/Significance Our results highlight the ability of parasites to deeply alter multiple dimensions of host phenotype with important consequences for performance and survival. These patterns were best explained by malformation status, rather than infection per se, helping to decouple the direct and indirect effects of parasitism on host fitness. PMID:21633498

Ethanol-Gel Sclerotherapy of Venous Malformations: Effectiveness and Safety.

PubMed

Teusch, Veronika I; Wohlgemuth, Walter A; Hammer, Simone; Piehler, Armin P; Müller-Wille, René; Goessmann, Holger; Uller, Wibke

2017-12-01

In the treatment of venous malformations, ethanol may be administered in a gelified form to increase local effects and reduce systemic ones. The purpose of this prospective study was to evaluate the efficacy and safety of a commercially available viscous ethanol gel in the treatment of venous malformations. Thirty-one patients (mean age, 23.4 years; age range, 6.6-46.5 years) with venous malformations were prospectively scheduled for two ethanol-gel sclerotherapy sessions. Venous malformations were located at the lower extremity (n = 18), the upper extremity (n = 9), and the face (n = 4). Questionnaires to assess pain, clinical examinations, professional photographs, and contrast-enhanced MRI of the venous malformations were performed before and after therapy to measure therapy-induced changes. Two experienced radiologists blinded to the examination date and clinical status compared photographs and MR images before and after treatment. A mean of 4.2 mL of ethanol gel were administered per session. The technical success rate was 100%. Clinical success, defined as improvement or resolution of symptoms, was noted in 81% of patients. Mean pain score decreased, and the difference was statistically significant (3.9 vs 3.1, p = 0.005). In 54 treatment sessions where follow-up was available, four minor complications occurred. Comparison of photographs and MR images before and after treatment showed improvement in 35% and 93% of patients, respectively. Ethanol gel is an effective and safe sclerosing agent in the treatment of venous malformations.

Obstetric implications of minor müllerian anomalies in oligomenorrheic women.

PubMed

Sørensen, S S; Trauelsen, A G

1987-05-01

The obstetric performance of 50 consecutive women with minor müllerian anomalies was compared with that of 141 subjects having a normal uterine cavity on hysterosalpingography. All 191 patients had a history of some years' infertility. Spontaneous abortion was the outcome of the first pregnancy in 27.8% of women with müllerian anomalies (not statistically different from the outcome of the control group). However, the evidence of a greater risk of variously complicated first pregnancies and labors (30.3% versus 12.9%, p less than 0.05) and of emergency cesarean sections (21.2% versus 7.1%, p less than 0.05) in the group of minor müllerian anomalies than in the group with normal uteri confirmed the innate pathologic condition and clinical significance of these mild to moderate malformations present in about 40% to 50% of oligomenorrheic women. The most frequent complications were threatened abortion and abnormal fetal lie. Even the very mildest müllerian anomalies seemed to have gynecologic and obstetric implications, but the clinical impact in this group still remains uncertain. It is concluded that a genital tract anomaly of a certain obstetric significance (ratio between distance from nadir of fundal indentation to line connecting summits of uterine horns and length of this line or H/L ratio greater than 0.15) must be suspected in about one third of women with oligomenorrhea. Consequently a high risk in the event of a future pregnancy is evident, and about half the pregnancies (42.1%) in this group will be complicated in one or more ways.

Role of fetal sex in amniotic fluid alphafetoprotein screening.

PubMed

Knippel, Alexander Johannes

2002-10-01

Previous studies have shown that fetal gender has influence on various pregnancy complications and prenatal diagnostic biochemical markers. We have evaluated, whether elevation of amniotic fluid alphafetoprotein (AF AFP) is associated with fetal sex and whether a sex-related difference can help to identify pregnancies with AFP-associated malformations or fetal loss. From our database we obtained 6461 singleton gestations with AF AFP measurements for the period April 1997-March 1999. Patients with AF AFP >1.9 MoM were identified, details of pregnancy outcome were obtained and compared to matched-pair controls having AF AFP <2 MoM. In 232 of 262 patients having AF AFP levels >1.9 MoM outcome information was available. Of these fetuses, significantly more had male gender (147 male fetuses versus 85 female). Having a screen-positive result the risk of AFP-associated malformations was significantly higher for female fetuses (25 female fetuses (29.4%) versus 22 male fetuses (15%) with AFP-associated malformations). Adjusting the cut-off MoM to 2.5 for male and to 2.0 for female fetuses halves the false positive rate from 3.4 to 1.7% without affecting the detection rate of 95%. Pregnancies with false positive AF AFP had a significantly higher risk for fetal loss compared with pregnancies having normal AF AFP (ten fetal losses from 185 versus two fetal losses from 232), but fetal gender had no significant influence. Adjusting AF AFP MoM cut-offs for fetal gender could increase performance of AF-AFP screening. Larger studies are required to determine suitable sex-adjusted cut-off levels. Copyright 2002 John Wiley & Sons, Ltd.

Successful Pregnancy with a Full-Term Vaginal Delivery One Year After n-Butyl Cyanoacrylate Embolization of a Uterine Arteriovenous Malformation

DOE Office of Scientific and Technical Information (OSTI.GOV)

McCormick, Colleen C.; Kim, Hyun S.

Uterine arteriovenous malformation (AVM) causes significant morbidity with vaginal bleeding. Traditional therapy is a hysterectomy with no potential for future pregnancy. We present a case of successful superselective embolization of uterine AVM using n-butyl cyanoacrylate with subsequent normal term pregnancy and uncomplicated vaginal delivery in 1 year.

Editorial brain malformation surveillance in the Zika era

PubMed Central

Trevathan, Edwin

2016-01-01

The current surveillance systems for congenital microcephaly are necessary to monitor the impact of Zika virus (ZIKV) on the developing human brain, as well as the ZIKV prevention efforts. However, these congenital microcephaly surveillance systems are insufficient. Abnormalities of neuronal differentiation, development and migration may occur among infants with normal head circumference who have intrauterine exposure to ZIKV. Therefore, surveillance for congenital microcephaly does not ascertain many of the infants seriously impacted by congenital ZIKV infection. Furthermore, many infants with normal head circumference and with malformations of the brain cortex do not have clinical manifestations of their congenital malformations until several months to many years after birth, when they present with clinical manifestations such as seizures/epilepsy, developmental delays with or without developmental regression, and/or motor impairment. In response to the ZIKV threat, public health surveillance systems must be enhanced to ascertain a wide variety of congenital brain malformations, as well as their clinical manifestations that lead to diagnostic brain imaging. Birth Defects Research (Part A) 106:869–874, 2016. © 2016 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc. PMID:27891785

[The genetic background for the eye malformations anophthalmia and microphthalmia].

PubMed

Roos, Laura Sønderberg; Grønskov, Karen; Jensen, Hanne; Tümer, Zeynep

2012-03-12

Anophthalmia and microphthalmia (AO/MO) are rare congenital eye malformations, in which the eyeball is apparently absent or smaller than normal, which causes various degrees of visual impairment. Over 200 different AO/MO-related syndromes have been described, but the genetic background is unknown in many cases. The aim of this article is to give an overview of AO/MO, focusing on the genetic background. It is illustrated that the future identification of new AO/MO related genes will benefit in the genetic counseling of AO/MO patients, and in the understanding of eye development and congenital eye malformations.

Occlusion of an Intraosseous Arteriovenous Malformation With Percutaneous Injection of Polymethylmethacrylate

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ierardi, Anna Maria, E-mail: amierardi@yahoo.it; Mangini, Monica, E-mail: monica.mangini@tin.it; Vaghi, Massimo, E-mail: vaghim@yahoo.it

Primary intraosseous arteriovenous malformations are rare. Many minimally invasive procedures can be considered preoperative steps and/or definitive treatment. The case reported regards a young woman with a voluminous arteriovenous extratroncular infiltrating malformation of the humerus. She underwent several treatments, but none of them was completely occlusive. The last treatment consisted of direct percutaneous puncture of the intraosseous alteration and injection of polymethylmethacrylate (PMMA), which is normally used in percutaneous vertebroplasty. We obtained complete occlusion of the humerus lytic lesion. To the best of our knowledge, this represents the first case of intraosseous AVM treated by percutaneous injection of PMMA.

Microvascular complications and the diabetic pregnancy.

PubMed

Bond, Melton J; Umans, Jason G

2006-08-01

Without strict glycemic control, diabetic pregnancies are frequently complicated by spontaneous abortion, stillbirth, or congenital malformation. Retrospective studies have been largely reassuring that pregnancy does not accelerate morbid outcomes in women with diabetic vascular disease. Improved outcomes of high-risk pregnancy in women with pregestational, type 1, or type 2 diabetes mellitus remain challenging, depending on a comprehensive and multidisciplinary team approach and extensive preconception counseling.

Cerebral dominance for speech and handwriting of patients with cortical vascular malformations.

PubMed

Sass, K J; Buchanan, C P; Westerveld, M; Spencer, D D

1994-10-01

Lateralization of speech dominance was established using amobarbital for 22 patients with vascular malformations lateralized to the left cerebral hemisphere. Patients' histories were negative for clinically evident neurological events (e.g., seizures or hemorrhage) prior to adulthood. The vascular lesions were categorized as high flow arteriovenous malformations (AVMs) (n = 4), low flow AVMs (n = 6), cavernous hemangiomas (n = 10), or venous angiomas (n = 2) by reviewing angiographic findings and surgical pathology for those patients whose lesions were excised. Three of the malformations encroached upon primary language areas. The frequency of right hemisphere speech dominance was not significantly elevated in comparison with the normal population, even though the incidence of nonright-handedness was. Ninety-five percent of the patients were left hemisphere dominant for speech: only one patient, with a parietal lobe cavernous hemangioma, was found to be right hemisphere dominant for speech. This malformation did not involve the primary language areas. These findings suggest that vascular malformations do not affect speech dominance as readily as other neurological diseases, but frequently affect manual dominance.

Congenital portosystemic shunts: diagnosis and treatment.

PubMed

Franchi-Abella, Stéphanie; Gonzales, Emmanuel; Ackermann, Oanez; Branchereau, Sophie; Pariente, Danièle; Guérin, Florent

2018-05-05

Congenital portosystemic shunts (CPSS) are rare vascular malformations that create an abnormal connection between portal and systemic veins resulting in complete or partial diversion of the portal flow away from the liver to the systemic venous system. Different anatomic types exist and several classifications have been proposed. They can be associated with other malformations especially cardiac and heterotaxia. The main complications include hepatic encephalopathy, liver tumors, portopulmonary hypertension, and pulmonary arteriovenous shunts. Diagnosis relies on imaging, and prenatal diagnosis is possible. Spontaneous closure of the CPSS is possible in some anatomic forms during the first year of life. When the CPSS remains patent, radiologic or surgical closure of the CPSS may prevent, resolve, or stabilize complications. Interventional radiology plays a key role for both the preoperative evaluation with occlusion test to assess the exact anatomy and to measure portal pressure after occlusion of the CPSS. Endovascular closure is the first option for treatment when possible.

First approximation to congenital malformation rates in embryos and hatchlings of sea turtles.

PubMed

Bárcenas-Ibarra, Annelisse; de la Cueva, Horacio; Rojas-Lleonart, Isaias; Abreu-Grobois, F Alberto; Lozano-Guzmán, Rogelio Iván; Cuevas, Eduardo; García-Gasca, Alejandra

2015-03-01

Congenital malformations in sea turtles have been considered sporadical. Research carried out in the Mexican Pacific revealed high levels of congenital malformations in the olive ridley, but little or no information is available for other species. We present results from analyses of external congenital malformations in olive ridley, green, and hawskbill sea turtles from Mexican rookeries on the Pacific coast and Gulf of Mexico. We examined 150 green and hawksbill nests and 209 olive ridley nests during the 2010 and 2012 nesting seasons, respectively. Olive ridley eggs were transferred to a hatchery and incubated in styrofoam boxes. Nests from the other two species were left in situ. Number of eggs, live and dead hatchlings, and eggs with or without embryonic development were registered. Malformation frequency was evaluated with indices of prevalence and severity. Mortality levels, prevalence and severity were higher in olive ridley than in hawksbill and green sea turtles. Sixty-three types of congenital malformations were observed in embryos, and dead or live hatchlings. Of these, 38 are new reports; 35 for wild sea turtles, three for vertebrates. Thirty-one types were found in hawksbill, 23 in green, and 59 in olive ridley. The head region showed a higher number of malformation types. Malformation levels in the olive ridley were higher than previously reported. Olive ridleys seem more prone to the occurrence of congenital malformations than the other two species. Whether the observed malformation levels are normal or represent a health problem cannot be currently ascertained without long-term assessments. © 2015 Wiley Periodicals, Inc.

Subarachnoid haemorrhage with "Ecstasy" abuse in a young adult.

PubMed

Auer, J; Berent, R; Weber, T; Lassnig, E; Eber, B

2002-10-01

Abuse of the drugs like amphetamine, cocaine and "Ecstasy" may be complicated by intracerebral, subdural or subarachnoid haemorrhage. Contrary to historical opinion, drug-related intracranial haemorrhage (ICH) is frequently related to an underlying vascular malformation. We report the case of an 18-year-old man with a history of Ecstasy abuse preceding the onset of severe occipital headache. Cerebral computed tomography revealed right-sided subarachnoid haemorrhage and cerebral angiography showed right-sided middle cerebral artery aneurysm of 1 cm diameter. The patient was treated surgically with aneurysm clipping. Three weeks after onset of intracranial haemorrhage, neurological examination demonstrated normal findings. A history of severe headache immediately after using amphetamine, Ecstasy, or cocaine should alert doctors to the possibility of intracerebral haemorrhage. Arteriography should be part of the evaluation of most young patients with stroke or non-traumatic ICH.

Hypertrophic olivary degeneration following surgical resection or gamma knife radiosurgery of brainstem cavernous malformations: an 11-case series and a review of literature.

PubMed

Yun, Jung-Ho; Ahn, Jae Sung; Park, Jung Cheol; Kwon, Do Hoon; Kwun, Byung Duk; Kim, Chang Jin

2013-03-01

We describe 11 patients with hypertrophic olivary degeneration (HOD) after surgical resection or gamma knife radiosurgery for brainstem cavernous malformations. In addition, we statistically analyzed the predicting factors associated with the development of HOD. From January 2001 to May 2011, a total of 73 patients (30 in the surgical group and 43 in the radiosurgery group) with brainstem cavernous malformations were treated in our institute. Of them, 11 patients (incidence: 15 %) developed HOD with high signal intensity on T2-weighted MRI during follow-up. The predicting factors (location, size, age, and treatment method) associated with the development of HOD were statistically analyzed. Among the 11 HOD patients, seven patients received surgical resection and four patients received gamma knife radiosurgery. Six patients had bilateral HOD and the remaining five patients had unilateral HOD. Overall HOD-associated symptoms presented in four patients, including three palatal tremors and one ataxia. In all four patients with symptoms, these symptoms disappeared incompletely within the clinical follow-up period. The size of the cavernous malformation, age of patient, and treatment methods were not significantly correlated with the development of HOD. A significantly higher incidence of HOD was associated with midbrain cavernous malformations than with pontine or medulla cavernous malformations. HOD should be recognized as a non-infrequent complication of surgical resection or gamma knife radiosurgery within the brainstem, especially for midbrain cavernous malformations. In addition, to the best of our knowledge, this is the first report on HOD development after radiosurgery.

Hemodynamic consequences of cardiac malformations in two juvenile ball pythons (Python regius).

PubMed

Jensen, Bjarke; Wang, Tobias

2009-12-01

Two cases of bifid ventricles and cardiac malformations in juvenile ball python (Python regius) were investigated by blood pressure measurements and macro- and microscopic sectioning. A study of a normal ball python was included for reference. In both cases, all cardiac chambers were enlarged and abnormally shaped. Internal assessment of the ventricles revealed a pronounced defect of the muscular ridge, which normally is responsible for separating the systemic and pulmonary circuits. Consistent with the small muscular ridge, systolic pressures were identical in the pulmonary and systemic arteries, but, the snakes, nevertheless, lived to reach body weights severalfold of their hatchling weight.

Use of ethylene-vinyl alcohol copolymer as a liquid embolic agent to treat a peripheral arteriovenous malformation in a dog

PubMed Central

Culp, William T. N.; Glaiberman, Craig B.; Pollard, Rachel E.; Wisner, Erik R.

2015-01-01

Case Description An 11-year-old castrated male Tibetan Mastiff was evaluated because of a visibly enlarged blood vessel and progressively worsening swelling of the right hind limb. Clinical Findings On physical examination, the right hind limb was markedly larger than the left hind limb and the dog was minimally weight bearing on the affected limb. A bruit was auscultated over the affected region. Ultrasonography of the tarsal region of the right hind limb revealed an artery with turbulent flow that communicated with venous drainage. A CT scan confirmed the presence of an arteriovenous malformation (AVM). Treatment and Outcome Embolization of the AVM with a liquid embolic agent (ethylene-vinyl alcohol copolymer dissolved in dimethyl sulfoxide) was elected. An arteriogram was performed prior to treatment and delineated the vessels that were targeted for embolization. The embolic agent was infused into the AVM, and a postinjection arteriogram confirmed complete occlusion of the AVM nidus and normal arterial flow to the paw with subsequent normal venous drainage. The circumference of the abnormal paw was 51 cm before the procedure and 22.9 cm at 4 weeks after the procedure. Additionally, the gait of the dog dramatically improved. No complications associated with the procedure developed. Clinical Relevance Peripheral AVMs in dogs are uncommon, and described treatment options are limited and generally associated with serious morbidity. A liquid embolic agent, ethylene-vinyl alcohol copolymer dissolved in dimethyl sulfoxide, was successfully administered in this case, and no morbidity was observed secondary to the procedure. Clinical success was characterized by substantial improvement in limb swelling and marked improvement in the gait of the dog. PMID:24984133

Evolution of congenital malformations of the umbilical-portal-hepatic venous system.

PubMed

Scalabre, Aurelien; Gorincour, Guillaume; Hery, Geraldine; Gamerre, Marc; Guys, Jean-Michel; de Lagausie, Pascal

2012-08-01

The objective of this study is to describe the evolution of 8 cases of congenital malformations of the umbilical-portal-hepatic venous system diagnosed before the first month of life. All cases of congenital malformation of the portal and hepatic venous system diagnosed prenatally or during the first month of life in our institution were systematically reviewed since November 2000. Clinical features, imaging, and anatomical findings were reviewed, focusing primarily on clinical and radiologic evolution. Eight cases of congenital malformation of the umbilical-portal-hepatic venous system were studied. Fifty percent of these malformations were diagnosed prenatally. We report 4 portosystemic shunts. Three involuted spontaneously, and the fourth one required surgical treatment. We report a variation of the usual anatomy of portal and hepatic veins that remained asymptomatic, an aneurysmal dilatation of a vitelline vein causing portal vein thrombosis that needed prompt surgical treatment with good result, a complex portal and hepatic venous malformation treated operatively, and a persistent right umbilical vein that remained asymptomatic. Prenatal diagnosis of malformations of the umbilical-portal-hepatic venous network is uncommon. Little is known about the postnatal prognosis. Clinical, biologic, and radiologic follow-up by ultrasonography is essential to distinguish pathologic situations from normal anatomical variants. Copyright © 2012 Elsevier Inc. All rights reserved.

Trans-venous embolization of a basal ganglia ruptured arteriovenous malformation with open surgical arterial control: A hybrid technique.

PubMed

Kulcsár, Zsolt; Machi, Paolo; Schaller, Karl; Lovblad, Karl Olof; Bijlenga, Philippe

2018-05-01

Treatment of ruptured deep-seated arteriovenous malformations is challenging and associated with elevated risks. This is due to the proximity or involvement of critical brain structures and the specifically fine and delicate angioarchitecture of these lesions, making both endovascular and surgical access technically complicated. We present the advantages of a true combined, open surgical and endovascular transvenous approach in a hybrid operating room. The technique may overcome in part the difficulties and may improve safety and risk related concerns. Copyright © 2018. Published by Elsevier Masson SAS.

Hybrid procedure for orbital venous malformation in the endovascular operation room.

PubMed

Cheng, A C O; Li, E Y M; Chan, T C Y; Wong, A C W; Chan, P C M; Poon, W W L; Fung, D H S; Yuen, H K L

2015-08-01

To describe a hybrid procedure for orbital venous malformation in the endovascular operating room (EVOR). Five consecutive patients with venous malformation in the periocular and orbital region were included. All patients received a one-stage direct puncture venogram, image-guided glue injection, and surgical resection in the EVOR equipped with a biplane digital subtraction angiography system (BDSAS). The mean age at the time of operation was 37.4 years (range, 22-69 years). The mean operative time was 193 min (range, 138-324 min). No intraoperative complications were noted. The mean follow-up duration was 18.8 months (range, 10-24 months). Three patients had complete removal of the vascular lesions. At the latest follow-up, no recurrence of symptoms related to the lesions was noted. All patients had an uneventful recovery and satisfactory outcome. The hybrid procedure of orbital venous malformation in the EVOR is a novel application in ophthalmology. It is a safe and well-controlled procedure with real-time high-quality BDSAS surveillance to facilitate surgical resection. Its success requires collaboration between the interventional radiologist, the surgeon, and the ophthalmologist.

[Pyelonephritis with massive renal tissue necrosis in child with urinary tract malformation--a case report].

PubMed

Pawlak-Bratkowska, Monika; Finke, Daria; Olejniczak, Dariusz; Midel, Anna; Tkaczyk, Marcin

2009-04-01

The aim of the case report is presentation of unusual and heavy clinical course of pyelonephritis with renal tissue necrosis in a child with urinary tract malformation. Nine month old girl was admitted to hospital in heavy clinical status due to pyelonephritis--urosepsis. It was complicated by acute renal insufficiency. Patient was treated by broad-spectrum antibiotics and parenteral nutrition. She was feverish for 14 days. Computed tomography done in order to exclude abdominal abscess showed massive renal tissue necrosis of on both sides. Antibiotic treatment was successful after 6 weeks. Urological evaluation revealed bilateral vesico-ureteral refluxes grade IV. Scintigraphy showed multiple scars. Patient was treated Deflux injections (twice). We noted 5 urinary tract recurrences despite antibiotic profilaxis. GFR of 75 ml/min/1.73 m2 was estimated at age of 16 m. Immunodeficiency or malignancy as background of clinical course were excluded. The case we describe presents severe clinical course of pyelonephritis due to complex urinary tract malformation that is to be considered despite based on modern publications "sparing" strategies of diagnosis and profilaxis in urinary tract malformations.

Long-term outcomes of a transmastoid lateral semicircular canal approach to congenital CSF otorrhea in children associated with recurrent meningitis and severe inner ear malformation.

PubMed

Wang, Jie; Li, Yongxin; Chen, Shubin; Hao, Xinping

2016-08-01

To investigate the long-term effectiveness of transmastoid lateral semicircular canal approach (TMLSCCA) to repair cerebrospinal fluid (CSF) leakage in children associated with recurrent meningitis and severe congenital inner malformation. A retrospective study was conducted in a university hospital, academic medical center. Fifteen children with recurrent meningitis, secondary to severe congenital inner ear malformation, were included in the study. All of them had CSF associated otorrhea and treated using TLSCCA to repair CSF otorrhea by packing the vestibule with muscle and fascia. Observation of the status of postoperative CSF leakage, recurrence of meningitis and complication were conducted. None of the cases had recurrent meningitis and CSF leakage after their TLSCCA procedure in the follow-up period of 1-8.5 years. One case presented with transient facial nerve paralysis and completely recovered 3 months later. TLSCCA for CSF otorrhea in children with recurrent meningitis secondary to congenital inner ear malformation is an alternative approach that offers some advantages. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Dandy-Walker malformations in a case of partial trisomy 9p (p12.1→pter) due to maternal translocation t(9;12)(p12.1;p13.3)

PubMed Central

Vundinti, Babu Rao; Kerketta, Lily; Korgaonkar, Seema; Ghosh, Kanjaksha

2007-01-01

We describe a five-year-old proband presented with Dandy-Walker malformations, right microopthalmia, hamstring contractures, undescended testis with absence of testis in right scrotum in addition to typical trisomy 9p clinical features. Routine cytogenetic studies with GTG - banding showed 46,XY,der(12)t(9;12) (p12;q13.3),mat karyotype (trisomy 9p). Chromosomal analysis of the father was normal and phenotypically normal mother had 46,XX,t(9;12)(p12;q13) karyotype. Fluorescence in situ hybridization analysis with single copy probes bA5OIA2 (9p11.2), bA562M8 (12p12.1) and centromere probes (9) showed break point at 9p12.1 region. The gene dosage effect of Chromosome 9p along with environmental factors might be associated with Dandy- Walker malformations in the patient. PMID:21957340

Epidemiological and genetic study in 207 cases of oral clefts in Alsace, north-eastern France.

PubMed Central

Stoll, C; Alembik, Y; Dott, B; Roth, M P

1991-01-01

The epidemiology of oral clefts was studied in the geographical area covered by our registry of congenital malformations. For each of the 207 new cases studied during the period 1979 to 1987, more than 50 factors were compared in probands and controls. The incidence of oral clefts was 1.75 per 1000, with cleft lip/palate (CL(P] 0.98 and cleft palate only (CP) 0.77 per 1000. A total of 8.2% of cleft cases were stillbirths and 5.3% were induced abortions. The more common types of associated malformations in the 76 affected cases (36.7%) with at least one anomaly other than oral cleft were neural tube defects and skeletal malformations. At birth, infants with oral clefts and other malformations were smaller, weighed less, and their head circumference was lower than in controls. Placental weight was also lower than in controls. Pregnancies with oral clefts were more often complicated by threatened abortion, polyhydramnios, and arterial hypertension. There was a significant association between clefting and consanguinity; heritability of CL(P) was 81% and first degree relatives of probands had more than three times the prevalence of noncleft malformations as controls. These results are of relevance to genetic counselling. PMID:1842671

Surgical Management of the Pediatric Cochlear Implant Patient.

ERIC Educational Resources Information Center

Cohen, Seth M.; Haynes, David S.

2003-01-01

This article discusses the surgical management of children receiving cochlear implants. It identifies preoperative considerations to select patients likely to benefit, contraindications, some new surgical techniques, complications, special considerations (otitis media, meningitis, head growth, inner ear malformations, and cochlear obstruction).…

Chiari malformation Type I surgery in pediatric patients. Part 2: complications and the influence of comorbid disease in California, Florida, and New York.

PubMed

Greenberg, Jacob K; Olsen, Margaret A; Yarbrough, Chester K; Ladner, Travis R; Shannon, Chevis N; Piccirillo, Jay F; Anderson, Richard C E; Wellons, John C; Smyth, Matthew D; Park, Tae Sung; Limbrick, David D

2016-05-01

OBJECTIVE Chiari malformation Type I (CM-I) is a common and often debilitating pediatric neurological disease. However, efforts to guide preoperative counseling and improve outcomes research are impeded by reliance on small, single-center studies. Consequently, the objective of this study was to investigate CM-I surgical outcomes using population-level administrative billing data. METHODS The authors used Healthcare Cost and Utilization Project State Inpatient Databases (SID) to study pediatric patients undergoing surgical decompression for CM-I from 2004 to 2010 in California, Florida, and New York. They assessed the prevalence and influence of preoperative complex chronic conditions (CCC) among included patients. Outcomes included medical and surgical complications within 90 days of treatment. Multivariate logistic regression was used to identify risk factors for surgical complications. RESULTS A total of 936 pediatric CM-I surgeries were identified for the study period. Overall, 29.2% of patients were diagnosed with syringomyelia and 13.7% were diagnosed with scoliosis. Aside from syringomyelia and scoliosis, 30.3% of patients had at least 1 CCC, most commonly neuromuscular (15.2%) or congenital or genetic (8.4%) disease. Medical complications were uncommon, occurring in 2.6% of patients. By comparison, surgical complications were diagnosed in 12.7% of patients and typically included shunt-related complications (4.0%), meningitis (3.7%), and other neurosurgery-specific complications (7.4%). Major complications (e.g., stroke or myocardial infarction) occurred in 1.4% of patients. Among children with CCCs, only comorbid hydrocephalus was associated with a significantly increased risk of surgical complications (OR 4.5, 95% CI 2.5-8.1). CONCLUSIONS Approximately 1 in 8 pediatric CM-I patients experienced a surgical complication, whereas medical complications were rare. Although CCCs were common in pediatric CM-I patients, only hydrocephalus was independently associated with increased risk of surgical events. These results may inform patient counseling and guide future research efforts.

Obstetric and perinatal outcomes in IVF versus ICSI-conceived pregnancies at a tertiary care center--a pilot study.

PubMed

Nouri, Kazem; Ott, Johannes; Stoegbauer, Lucia; Pietrowski, Detlef; Frantal, Sophie; Walch, Katharina

2013-08-31

Although most pregnancies after IVF result in normal healthy outcomes, an increased risk for a number of obstetric and neonatal complications, compared to naturally conceived pregnancies, has been reported. While there are many studies that compare pregnancies after assisted reproductive techniques with spontaneously conceived pregnancies, fewer data are available that evaluate the differences between IVF and ICSI-conceived pregnancies. The aim of our present study was, therefore, to compare obstetric and perinatal outcomes in pregnancies conceived after in vitro fertilization (IVF) versus intracytoplasmatic sperm injection (ICSI). Three-hundred thirty four women who had become pregnant after an IVF or ICSI procedure resulted in a total of 530 children referred between 2003 und 2009 to the Department of Obstetrics and Gynecology of the Medical University of Vienna, a tertiary care center, and were included in this retrospective cohort study. We assessed maternal and fetal parameters in both groups (IVF and ICSI). The main study outcomes were preterm delivery, the need for neonatal intensive care, and congenital malformations. Moreover, we compared the course of pregnancy between both groups and the occurrence of complications that led to maternal hospitalization during pregnancy. There were 80 children conceived via ICSI and 450 children conceived via IVF.Mean gestational age was significantly lower in the ICSI group (p = 0.001). After ICSI, the birth weight (p = 0.008) and the mean APGAR values after 1 minute and after 10 minutes were lower compared to that of the IVF group (p = 0.016 and p = 0.047, respectively). Moreover, ICSI-conceived children had to be hospitalized more often at a neonatal intensive care unit (p = 0.004). There was no difference in pH of the umbilical artery or in major congenital malformations between the two groups. Pregnancy complications (i.e., premature rupture of membranes, cervical insufficiency, and premature uterine contractions) and the need for maternal hospitalization during pregnancy were found significantly more often after IVF (p = 0.0016 and p = 0.0095, respectively), compared to the ICSI group. When comparing IVF versus ICSI-conceived pregnancies at a tertiary care center, we found the course of pregnancy to be more complicated after IVF, whereas the primary fetal outcome seemed to be better in this group than after ICSI treatment.

Obstetric and perinatal outcomes in IVF versus ICSI-conceived pregnancies at a tertiary care center - a pilot study

PubMed Central

2013-01-01

Background Although most pregnancies after IVF result in normal healthy outcomes, an increased risk for a number of obstetric and neonatal complications, compared to naturally conceived pregnancies, has been reported. While there are many studies that compare pregnancies after assisted reproductive techniques with spontaneously conceived pregnancies, fewer data are available that evaluate the differences between IVF and ICSI-conceived pregnancies. The aim of our present study was, therefore, to compare obstetric and perinatal outcomes in pregnancies conceived after in vitro fertilization (IVF) versus intracytoplasmatic sperm injection (ICSI). Methods Three-hundred thirty four women who had become pregnant after an IVF or ICSI procedure resulted in a total of 530 children referred between 2003 und 2009 to the Department of Obstetrics and Gynecology of the Medical University of Vienna, a tertiary care center, and were included in this retrospective cohort study. We assessed maternal and fetal parameters in both groups (IVF and ICSI). The main study outcomes were preterm delivery, the need for neonatal intensive care, and congenital malformations. Moreover, we compared the course of pregnancy between both groups and the occurrence of complications that led to maternal hospitalization during pregnancy. Results There were 80 children conceived via ICSI and 450 children conceived via IVF. Mean gestational age was significantly lower in the ICSI group (p = 0.001). After ICSI, the birth weight (p = 0.008) and the mean APGAR values after 1 minute and after 10 minutes were lower compared to that of the IVF group (p = 0.016 and p = 0.047, respectively). Moreover, ICSI-conceived children had to be hospitalized more often at a neonatal intensive care unit (p = 0.004). There was no difference in pH of the umbilical artery or in major congenital malformations between the two groups. Pregnancy complications (i.e., premature rupture of membranes, cervical insufficiency, and premature uterine contractions) and the need for maternal hospitalization during pregnancy were found significantly more often after IVF (p = 0.0016 and p = 0.0095, respectively), compared to the ICSI group. Conclusions When comparing IVF versus ICSI-conceived pregnancies at a tertiary care center, we found the course of pregnancy to be more complicated after IVF, whereas the primary fetal outcome seemed to be better in this group than after ICSI treatment. PMID:24004836

[Port wine stains or capillary malformations: surgical treatment].

PubMed

Berwald, C; Salazard, B; Bardot, J; Casanova, D; Magalon, G

2006-01-01

Capillary malformations do not demand mostly any therapeutics. For aesthetic reasons, family or child can demand a treatment to ease even to remove the unsightly character of the lesion. In this context, the means employees must be simple and not engender aftereffects more unaesthetic than the lesion. The pulsed dye laser fulfils perfectly this conditions by improving the color of the lesion without touching the texture of the skin. However it's a treatment requiring many sessions over 2-3 years. Surgery keeps an interest for the treatment of capillary malformations resistant to laser (in particular on the limbs) or to treat soft tissues hyperplasia met in certain cervicofacial locations. The surgery uses the whole techniques of plastic surgery classified from the most simple to the most complicated: excision-suture in one time or iterative, excision and coverage by a skin graft, use of skin expansion techniques with local flaps.

Sclerotherapy for congenital lesions in the head and neck.

PubMed

Kim, Kwang Hyun; Sung, Myung-Whun; Roh, Jong-Lyel; Han, Moon Hee

2004-09-01

This study retrospectively reviews the results of sclerotherapy using several sclerosants for congenital lesions of the head and neck. Between May 1990 and May 2002, patients with lymphatic malformations were treated by sclerotherapy; 10 with bleomycin, and 25 with OK-432. OK-432 sclerotherapy was also applied in 9 patients with plunging ranula and in 1 patient with branchial anomaly. Percutaneous sclerotherapy with ethanolamine oleate was used in 29 patients with venous malformations, and 28 patients with pyriform sinus fistula were treated by trichloroacetic acid chemocauterization. Overall, two thirds of patients with these lesions showed marked to complete response. One case of mortality occurred in the bleomycin sclerotherapy group. However, no major complications by other sclerosants were found. In lymphatic malformations, history of excision before sclerotherapy was a poor prognostic factor. Sclerotherapy using these sclerosants is a safe and effective primary treatment for congenital lesions in the head and neck.

Postoperative adjuvant OK-432 sclerotherapy for treatment of cervicofacial lymphatic malformations: an outcomes comparison.

PubMed

Kim, So Young; Lee, Sanghoon; Seo, Jeong-Meen; Lim, So Young

2015-04-01

Surgical treatment of extensive cervicofacial lymphatic malformations is often challenging due to a high rate of postoperative fluid re-accumulation and lesion recurrence resulting from incomplete resection. This study suggests a combined treatment of surgical resection and postoperative adjuvant OK-432 sclerotherapy via closed suction drainage. Using comparative analysis, this study aims to evaluate the efficacy of adjuvant sclerotherapy. A retrospective chart review was performed on patients who underwent surgical resection of cervicofacial lymphatic malformations between January 2009 and July 2013. Patients were divided into two groups based on whether or not adjuvant OK-432 sclerotherapy was administered via closed suction drainage after surgery. Both surgery-related and adjuvant sclerotherapy-related complications were assessed, and treatment effectiveness was measured based on the change in Cologne Disease Score (CDS) or the need for further treatment. A total of 17 patients underwent surgical resection. Nine of these patients underwent surgical resection only, while the other eight underwent surgical resection with adjuvant OK-432 sclerotherapy. The increase in total Cologne Disease Score (CDS) and change of progression parameters were significantly higher for the adjuvant sclerotherapy group compared to the surgery-only group. Additionally, there were no cases of postoperative lymphatic fluid retention among the adjuvant sclerotherapy group. The two groups exhibited similar complication rates with no statistically significant difference. Adjuvant OK-432 sclerotherapy via closed suction drainage is a safe and effective treatment modality. The combination of surgical resection and post-operative adjuvant sclerotherapy via closed suction drainage should be integrated into the treatment algorithm of extensive cervicofacial lymphatic malformation. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

[Progressive bone lengthening of the hand in congenital malformations. 41 cases].

PubMed

Foucher, G; Pajardi, G; Lamas, C; Medina, J; Navarro, R

2001-09-01

We retrospectively reviewed the experience of two Hand Units with progressive bone distraction lengthening, collecting 41 cases of hand skeleton lengthening for congenital malformations. The Ilizarov callostasis method was used in 31 cases and in 10 cases bone union was reestablished at a second stage with an iliac graft (2 cases), vascularized metacarpal bone graft (one case), and vascularized (one case) or nonvascularized (3 cases) toe epiphysis. In the last three cases of index lengthening, the distal part was translocated to the tip of the third, deepening at the same stage the first web. The most frequently treated malformation was symbrachydactyly (22 cases). Mean lengthening was 2.3 cm (0.9 to 3.5) with a mean treatment duration of 3.8 months (1.5 - 8.2). The "lengthening index" was 0.59. There was a significant difference between phalanx and metacarpal lengthening, but the amount of lengthening or treatment duration were not affected by technique (Ilizarov vs bone grafting) or age. The complication rate was 32%. There were two complete failures, one extensor tendon tear, 3 pin tract infections (one requiring interruption of the lengthening), 2 cases of relevant pain, 2 delayed unions, 2 angulations and 1 callus fracture, 1 metacarpophalangeal dislocation and 1 joint stiffness. Despite advances in micorsurgical toe transfer, there are still indications for bone lengthening in congenital malformations. The apparent simplicity of the technique can mask a certain number of complications, emphasizing the need for surgical experience. Progressive bone lengthening in congenital deformity has the advantage of preserving sensitivity and avoiding bone resorption. Callostasis does not increase the duration of treatment compared to bone graft.

Aesthetic treatment of pectus excavatum: a new endoscopic technique using a porous polyethylene implant.

PubMed

Grappolini, Simone; Fanzio, Paolo M; D'Addetta, Pierluca G C; Todde, Alberto; Infante, Maurizio

2008-01-01

Pectus excavatum is the most frequent malformation of the rib cage. Functional aspects associated with this malformation often are absent even in adults not involved in competitive sports activities. Overall, these patients often live with extreme psychological discomfort when the malformations are minor. Traditionally, the correction of these malformations has been geared toward interventions that modify the architecture of the rib cage. However, all these interventions, even the most recent, involve considerably invasive major surgery. In fact, optimal results are not always achieved with corrective surgery using the insertion of silicone prosthesis, and patients often experience complications. To correct intermediate and modest pectus excavatum in a stable manner and with the least amount of invasiveness, the authors developed a camouflage technique that uses porous prostheses made from high-density linear polyethylene. This material is generally used for reconstruction of the brain case. Between February 2001 and March 2006, in the I Unit of Plastic Surgery of the authors' Institute, 11 adult pectus excavatum patients with no previous cardiorespiratory symptoms underwent the authors' surgical technique. The average patient age was 29 years. Surgical repair was successful in all cases, and the average hospital stay was short. There were no complications during the follow-up period. The described approach repairs nonfunctional pectus excavatum in the adult with satisfying aesthetic and stable results, short hospital stay, and high patient popularity ratings. The best therapeutic option for pectus excavatum, especially with intermediate or moderate severity, is still controversial: thoracic surgery or camouflage surgery with implant? Trying to address those issues we propose a new technique by a multidisciplinary, not aggressive approach using a high density linear polyethylene implant and Omentus flap and the early analysis of our data.

[Comparison of posterior fossa decompression with and without duraplasty for surgical management for adult Chiari malformation type Ⅰ].

PubMed

Li, H Y; Li, Y M; Chen, H; Li, Y; Shi, X W

2017-07-04

Objective: To evaluate and compare the efficacy between posterior fossa decompression without duraplasty (PFD) and posterior fossa decompression with duraplasty (PFDD) in the surgical management for adult Chiari Ⅰ malformation. Methods: Fifty-seven patients suffered from Chiari malformation type Ⅰ were treated in Department of Neurosurgery, Henan Provincial People's Hospital from August 2008 to October 2013. Twenty-three patients received posterior fossa decompression without duraplasty and the other 34 patients received posterior fossa decompression with duraplasty. The clinical results were retrospectively analyzed to compare the efficacy of two different surgical approaches. Results: There was no death or severe neurological dysfunction case in 57 patients of the two groups. Patients undergoing PFD had shorter length of hospital stay[(13.7±3.5) d vs (16.2±4.1) d, P <0.05]and surgical time[(98.7±22.1) min vs (132.3±39.6)min, P <0.05]. Cerebrospinal fluid-related complications and intracranial infection were more common in patients undergoing PFDD[(0/23, 0) vs (8/34, 23.5%), P <0.05]. Clinical improvement was comparable in two groups[(15/23, 65.2%) vs (26/34, 76.5%), P >0.05]at the one-year follow-up. The rate of syrinx regression in patients with Syringomyelia was higher in patients undergoing PFDD[(3/12, 25%) vs (17/22, 77.3%), P <0.05]. Conclusion: For adult patients with Chiari malformation type Ⅰ, PFD has the advantages of simple manipulation, short length of hospital stay and low incidence of cerebrospinal fluid-related complications and intracranial infection, compared with PFDD. It is comparable to PFDD in clinical improvement, but the effect of PFD is not as good as that of PFDD in the aspect of syrinx regression.

[Anthropometric data, fetal and neonatal complications in infants of diabetic mothers. Results of a 10-year retrospective study].

PubMed

H Nagy, Katalin; Pomucz, János; Varga, Richárd; Szabó, Edit; Soltész, Gyula

2013-02-03

Disturbances in carbohydrate metabolism during pregnancy may result in harmful fetal and neonatal consequences. To assess the fetal and neonatal complications of pregnancy in mothers with gestational and pregestational diabetes during a 10-year period in a county hospital in Hungary. Retrospective analysis of infants of diabetic mothers admitted to the neonatal unit between 2001 and 2010. 32% of the infants were transferred to the neonatal unit. Neonatal macrosomia (birth weight >90 centile) was observed in one quarter of the infants. 39% of the infants developed hypoglycemia (blood glucose <2.6 mmol/l), in the majority of the cases within the first 8 hours. Hypoglycaemia was symptomatic in 55% of the infants. Hypocalcemia was observed in 17%, hyperviscosity in 23%, hyperbilirubinaemia in 32%, respiratory distress syndrome and/or transient tachypnoe in 22% and cardiac complications in 13% of the infants. 10% of the inafnts were affected with birth injuries. Congenital anomalies were seen in 17% of the cases, and severe malformations were present in 4% of the infants. Despite modern diabetes management, there is still a higher incidence of fetal macrosomia, adverse neonatal outcomes and a higher rate of severe congenital malformations in neonates of diabetic mothers.

Pulmonary Arteriovenous Malformations After the Superior Cavopulmonary Shunt: Mechanisms and Clinical Implications

PubMed Central

Kavarana, Minoo N.; Jones, Jeffrey A.; Stroud, Robert E.; Bradley, Scott M.; Ikonomidis, John S.; Mukherjee, Rupak

2015-01-01

Children with functional single ventricle heart disease are commonly palliated down a staged clinical pathway toward a Fontan completion procedure (total cavopulmonary connection). The Fontan physiology is fraught with long term complications associated with lower body systemic venous hypertension, eventually resulting in significant morbidity and mortality. The bidirectional Glenn shunt or superior cavopulmonary connection (SCPC) is commonly the transitional stage in single ventricle surgical management and provides excellent palliation. Some studies have demonstrated lower morbidity and mortality with the SCPC when compared with the Fontan. Unfortunately the durability of the SCPC is significantly limited by the development of pulmonary arteriovenous malformations (PAVMs) which have been commonly attributed to the absence of hepatic venous blood flow and the lack of pulsatile flow to the affected lungs. Abnormal angiogenesis has been suggested as a final common pathway to PAVM development. Understanding these fundamental mechanisms through the investigation of angiogenic pathways associated with the pathogenesis of PAVMs would help to develop medical therapies that could prevent or reverse this complication following SCPC. Such therapies could improve the longevity of the SCPC, potentially eliminate or significantly postpone the Fontan completion with its associated complications, and improve long-term survival in children with single ventricle disease. PMID:24758411

[Aripiprazole in pregnancy: a review of literature].

PubMed

Bellantuono, Cesario; Di Massimo, Giorgia; Mauro, Antonella; Martellini, Mariasole; Nardi, Bernardo

2015-01-01

Data on tolerability and safety of aripiprazolo during pregnancy and in childbirth are so far limited. Aim of the present study is to provide a review of the literature on the safety profile of aripiprazole during pregnancy and on maternal and neonatal outcomes, including two cases coming from our database (www.degradatabase.it). Medline database was searched for English language articles by using the following keywords: "aripiprazole", "atypical antipsychotic", "major malformations", "perinatal complications", "pregnancy". We reported 2 cases of women treated with aripiprazole during their pregnancy at the Clinic of Affective Disorders in Pregnancy and Postpartum of the United Hospital of Ancona (DEGRA Center - www.depressionegravidanza.it). The data available in the literature did not provide clear evidence about the safety and potential risks related to this drug during pregnancy. Data coming from our database did not detected any malformations and perinatal complications after exposure to aripiprazole in 2 newborns beyond the first trimester of pregnancy. From the evidence available, aripiprazole seems to be an antipsychotic effective and well tolerated in the treatment of women with psychotic disorders in pregnancy. However, further studies are needed to better establish the safety of aripiprazole during pregnancy, particularly as the risk of major malformtions and perinatal complications is concerned.

[Management of occult malformations at the lateral skull base].

PubMed

Bryson, E; Draf, W; Hofmann, E; Bockmühl, U

2005-12-01

Occult malformations of the lateral skull base are rare anomalies, but can cause severe complications such as recurrent meningitis. Therefore, they need to be precisely delineated and sufficient surgical closure is mandatory. Between 1986 and 2004 twenty patients (10 children and 10 adults) with occult malformations at the lateral skull base were treated surgically at the ENT-Department of the Hospital Fulda gAG. Of these 3 Mondini-malformations, 11 defects of the tegmen tympani or the mastoidal roof, 2 dural lesions to the posterior fossa and 4 malformations within the pyramidal apex have been found. Four patients have had multiple anomalies. Routing symptom was in all cases at least one previous meningitis. Radiological diagnostics included high-resolution computed tomography (CT) and magnetic resonance imaging (MRI) as well as CT- or MR-cisternography. Depending on type and localisation of the defect the following surgical algorithm was carried out: The trans-mastoidal approach was used in all cases of Mondini-malformation (including obliteration of the ear), in case of lesions to the posterior fossa as well as partly in anomalies at the tegmen tympani and mastoidal roof, respectively. Defects of the pyramidal apex should be explored via the trans-mastoidal way if the lesion is located caudally to the inner auditory canal (IAC), whereas the trans-temporal approach should be used if the lesion is situated ventral to the IAC and dorso-medially to the internal carotid artery (ICA). The trans-temporal approach was also performed in large defects of the tegmen tympani and mastoidal roof as well as in recurrences. In all cases of recurrent meningitis caused by agents of the upper airway tract the basic principle should be to search for occult skull base malformations radiologically as well as by sodium fluorescein endoscopy as long as the anomaly is detected.

Contiguous triple spinal dysraphism associated with Chiari malformation Type II and hydrocephalus: an embryological conundrum between the unified theory of Pang and the unified theory of McLone.

PubMed

Dhandapani, Sivashanmugam; Srinivasan, Anirudh

2016-01-01

Triple spinal dysraphism is extremely rare. There are published reports of multiple discrete neural tube defects with intervening normal segments that are explained by the multisite closure theory of primary neurulation, having an association with Chiari malformation Type II consistent with the unified theory of McLone. The authors report on a 1-year-old child with contiguous myelomeningocele and lipomyelomeningocele centered on Type I split cord malformation with Chiari malformation Type II and hydrocephalus. This composite anomaly is probably due to select abnormalities of the neurenteric canal during gastrulation, with a contiguous cascading impact on both dysjunction of the neural tube and closure of the neuropore, resulting in a small posterior fossa, probably bringing the unified theory of McLone closer to the unified theory of Pang.

A Review of Vascular Abnormalities of the Spine.

PubMed

Singh, Rahul; Lucke-Wold, Brandon; Gyure, Kymberly; Boo, Sohyun

2016-01-01

Patients with spinal vascular lesions present with unique symptoms and have important anatomical and physiologic changes that must be considered prior to treatment. In this mini-review, we provide an overview of normal spinal vascular anatomy and discuss several key spinal vascular lesions. We provide an overview of cavernous malformations, intradural arteriovenous malformations, perimedullary arteriovenous fistulas, and dural arteriovenous fistulas. Important considerations are addressed in terms of pathologic characterization, specific imaging findings, and treatment approaches.

Factors Determining the Clinical Complications of Radiosurgery for AVM.

PubMed

Machnowska, Matylda; Taeshineetanakul, Patamintita; Geibprasert, Sasikhan; Menezes, Ravi; Agid, Ronit; Terbrugge, Karel G; Andrade-Souza, Yuri; Schwartz, Michael L; Krings, Timo

2013-11-01

To identify the predictors of symptomatic post-radiation T2 signal change in patients with arteriovenous malformations (AVM) treated with radiosurgery. The charts of 211 consecutive patients with arteriovenous malformations treated with either gamma knife radisurgery or linear accelerator radiosurgery between 2000-2009 were retrospectively reviewed. 168 patients had a minimum of 12 months of clinical and radiologic follow-up following the procedure and complete dosage data. Pretreatment characteristics and dosimetric variables were analyzed to identify predictors of adverse radiation effects. 141 patients had no clinical symptomatic complications. 21 patients had global or focal neurological deficits attributed to symptomatic edema. Variables associated with development of symptomatic edema included a non-hemorrhagic symptomatic presentation compared to presentation with hemorrhage, p=0.001; OR (95%CI) = 6.26 (1.99, 19.69); the presence of venous rerouting compared to the lack of venous rerouting, p=0.031; OR (95% CI) = 3.25 (1.20, 8.80); radiosurgery with GKS compared to linear accelerator radiosurgery p = 0.012; OR (95% CI) = 4.58 (1.28, 16.32); and the presence of more than one draining vein compared to a single draining vein p = 0.032; OR (95% CI) = 2.82 (1.06, 7.50). We postulated that the higher maximal doses used with gamma knife radiosurgery may be responsible for the greater number of adverse radiation effects with this modality compared to linear accelerator radiosurgery. We found that AVMs with greater venous complexity and therefore instability resulted in more adverse treatment outcomes, suggesting that AVM angioarchitecture should be considered when making treatment decisions. Facteurs en cause dans les complications cliniques de la radiochirurgie pour une malformation artérioveineuse.

Label-free imaging of cellular malformation using high resolution photoacoustic microscopy

NASA Astrophysics Data System (ADS)

Chen, Zhongjiang; Li, Bingbing; Yang, Sihua

2014-09-01

A label-free high resolution photoacoustic microscopy (PAM) system for imaging cellular malformation is presented. The carbon fibers were used to testify the lateral resolution of the PAM. Currently, the lateral resolution is better than 2.7 μm. The human normal red blood cells (RBCs) were used to prove the imaging capability of the system, and a single red blood cell was mapped with high contrast. Moreover, the iron deficiency anemia RBCs were clearly distinguished from the cell morphology by using the PAM. The experimental results demonstrate that the photoacoustic microscopy system can accomplish label-free photoacoustic imaging and that it has clinical potential for use in the detection of erythrocytes and blood vessels malformation.

Gallbladder and cystic duct absence. An infrequent malformation in laparoscopic surgery.

PubMed

Cabajo Caballero, M A; Martin del Olmo, J C; Blanco Alvarez, J I; Atienza Sanchez, R

1997-05-01

Gallbladder absence is an infrequent anomaly normally accompanied by lack of the cystic duct. Of unknown etiology, in general it is accepted to be a congenital malformation. A male patient (age 59) diagnosed with nonfunctional symptomatic scleroatrophic gallbladder by echography and ERCP was operated on using a laparoscopic approach. Gallbladder and cystic absence was diagnosed during the procedure. A new case of gallbladder and cystic duct absence, diagnosed by laparoscopy, is presented. This type of extrahepatic bile duct malformation is quite rare, but it must be taken into account due to the generalization of laparoscopic surgery in biliar pathology because of the high risk of serious lesions to the hepatocholedochal system.

[Pre-operation evaluation and intra-operation management of cochlear implantation].

PubMed

Zhang, Dao-xing; Hu, Bao-hua; Xiao, Yu-li; Shi, Bo-ning

2004-10-01

To summarize pre-operation evaluation experiences in cochlear implantation. Performing auditory evaluation and image analysis seriously in 158 severe hearing loss or total deaf cases before cochlear implantation, comparing their performance with the findings during and post operation. Among the total 158 cases, 116 cases with normal structure, 42 cases with the abnormal findings of the inner or middle ear. Stapedial gusher happened in 6 cases, 1 case was not predicted before operation. Except 1 case with serious malformation, the findings of other 157 cases in operation were consistent with the pre-operation evaluation. We helped all patients reconstruct auditory conduction with cochlear implantation, and the average hearing level up to 37.6 dB SPL. Performing image analysis seriously before operation and planning for operation according to HRCT can do great help to cochlear implantation. The operation under the HRCT instruction has less complications.

[Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case].

PubMed

Mora-Bautista, Víctor M; Mendoza-Rojas, Víctor; Contreras-García, Gustavo A

2017-06-01

Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel. Central hypothyroidism, growth hormone deficiency and low luteinizing hormone-follicle-stimulating hormone levels were observed and multiple pituitary hormone deficiencies diagnosis was made. Basal cortisol, adrenocorticotropic hormone and prolactin levels were normal. He received thyroid hormonal substitution. Multiple pituitary hormone deficiencies are an unusual feature of De Lange syndrome. We suggest evaluating all different endocrine axes in these patients. Sociedad Argentina de Pediatría.

[Unicornuate uterus with cavitary non-communicating rudimentary horn: magnetic resonance characterization].

PubMed

Chamorro-Oscullo, Jenny Del Rocío; Sánchez-Cortázar, Julián Antonio; Gómez-Pérez, María de Guadalupe

2018-01-01

Mullerian duct or paramesonephric anomalies are a group of congenital malformations of the female genital tract that result from the alteration in one or more stages of embryonic development. The prevalence has increased, probably due to the progress of diagnostic imaging methods and the relevance that it has acquired in young women with infertility problems. Magnetic resonance imaging (MRI) is currently the method of choice for characterizing the different types of Mullerian anomalies, its complications and associated pathology. Unicornuate uterus correspond to class II of classification of Mullerian duct anomalies developed by the American Society for Reproductive Medicine. According to this, four subtypes have been identified, each with different clinical implications. A cavitated, non-communicating rudimentary horn in a unicornuate uterus is associated with an increased incidence of gynecological problems and obstetric complications that sometimes threaten the lives of patients, reason why its suspicion, diagnosis and treatment is necessary. We report the case of a patient with infertility in which this subtype of congenital malformation was discovered.

The Abernethy malformation—myriad imaging manifestations of a single entity

PubMed Central

Ghuman, Samarjit S; Gupta, Saumya; Buxi, T B S; Rawat, Kishan S; Yadav, Anurag; Mehta, Naimish; Sud, Seema

2016-01-01

Abernethy malformation, also known as congenital extrahepatic portosystemic shunts (CEPS) is a rare clinical entity and manifests with different clinical symptoms. CEPS are abnormalities of vascular development where there is shunting of portal blood into the systemic venous system. Multidetector computed tomography (MDCT) is a fast and effective modality for evaluation of CEPS. CT displays all the information desired by the surgeon as well as the clinician including the anatomy of the splenic and superior mesenteric veins, size and site of the shunt, presence or absence of the portal vein radicles, and helps to plan the therapy and even the follow-up of these patients. Contrast-enhanced magnetic resonance imaging (MRI) has also emerged as a promising tool for the evaluation of liver lesions associated with the malformation. The Radiologist should be aware of the various imaging appearances of this entity including its complications. In this article, we describe the imaging appearances of CEPS, their complications, and their imaging appearances on CT and MRI. We have also described various associated anomalies. PMID:27857464

Etiologies and clinical presentation of gigantism in Algeria.

PubMed

Chentli, Farida; Azzoug, Said; Amani, Mohammed El Amine; Haddam, Ali El Mahdi; Chaouki, Dalal; Meskine, Djamila; Chaouki, Mohamed Lamine

2012-01-01

True gigantism is an exceptional and fascinating pediatric disease. Our aim in this study was to describe the different etiologies of a large group of children with gigantism and the natural history of their growth. In this multicenter study, we considered as giant children, adolescents and adults whose heights were ≥3 SD compared to their target stature or to our population average lengths. Isolated hypogonadism and Klinefelter syndrome were excluded from this series. All underwent clinical exam, and hormonal and neurological investigations. From 1980 to 2010, we observed 30 giants: 26 males (86.6%) and 4 females (mean age 19.8 ± 11 years). Among the 13 patients (40.3%) who consulted before the age of 16 years, 9 had acromegaly and 6 had mental retardation and body malformations. Based on growth hormone (GH) secretion evaluation, 2 groups were observed: pituitary gigantism (n = 16): GH = 150 ± 252 ng/ml (n ≤ 5), and other causes with normal GH (0.7 ± 0.6 ng/ml): 6 Sotos syndrome and 8 idiopathic cases. Only the first group had neurological, ophthalmological, metabolic and cardiovascular complications and received treatment. The result was not optimal as GH normalization was not observed. Reduction of tumor size and decreased GH plasma values were not observed. Gigantism predominates in males. The main cause is GH excess. The diagnosis was very late except for cerebral gigantism. Complications were observed in pituitary gigantism only. Copyright © 2012 S. Karger AG, Basel.

Loop versus divided colostomy for the management of anorectal malformations: a systematic review and meta-analysis.

PubMed

Youssef, Fouad; Arbash, Ghaidaa; Puligandla, Pramod S; Baird, Robert J

2017-05-01

The ideal colostomy type for patients with anorectal malformations (ARM) is undetermined. We performed a systematic review and meta-analysis of short-term complications comparing loop and divided colostomies. After review registration (PROSPERO: CRD42016036481), multiple databases were searched for comparative studies without language or date restrictions. Gray literature was sought. Complications investigated included stomal prolapse/hernia/retraction, wound infections, and urinary tract infections (UTIs). Two reviewers independently assessed study eligibility and the quality of included studies. Meta-analysis of selected complications was performed using Revman 5.3, with p<0.05 considered significant. Twenty-six studies were included, and four were multi-institutional. Reporting standards were highly variable. Studies scored between 6 and 9 of possible nine stars on the NOS. Overall, 3866 neonates with ARM were incorporated, in which 2241 loop colostomies and 1994 divided colostomies were reported. Of 10 studies reporting short-term complications, the overall rate was 27%. Meta-analysis demonstrated no significant difference in the incidence of UTIs, (OR: 2.55 [0.76, 8.58], p=0.12), while loop colostomies had a significantly higher prolapse rate (See figure). No publication bias was noted. A colostomy for patients with an ARM is a source of considerable morbidity. Divided colostomies reduce the risk of subsequent prolapse and may represent the preferred approach. 3A. Copyright © 2017 Elsevier Inc. All rights reserved.

Bleeding complications after endovascular therapy of cerebral arteriovenous malformations.

PubMed

Heidenreich, J O; Hartlieb, S; Stendel, R; Pietilä, T A; Schlattmann, P; Wolf, K-J; Schilling, A M

2006-02-01

Intracerebral hemorrhages after embolization of arteriovenous malformations (AVMs) are the most dreaded complications of this well-established therapy. Apart from the known risk factors, our center noticed a high incidence of complications during postinterventional monitoring in medical intensive care units (ICUs) and stroke units. We report 125 consecutive interventions performed on 66 patients by using flow-dependent microcatheters and n-butyl cyanoacrylate as the embolic agent. Postinterventional intensive care monitoring was performed in an interdisciplinary operative ICU, a stroke unit, or a medical ICU. Patients were compared with regard to bleeding complications, AVM morphology, embolization result, postinterventional monitoring, and demographic factors. Intracerebral hemorrhages occurred in 7 patients. Significant differences in outcome were found between 66 patients monitored in the interdisciplinary operative ICU from medical ICU or stroke unit. This was also true when adjusted for age and extent of AVM reduction by using exact logistic regression. A partial AVM reduction of >60% was a considerable risk factor for hemorrhage (odds ratio [OR] = 18.8; 95% confidence interval [CI] [1.341, not available]. Age was also an essential risk factor. An age difference of 10 years leads to an OR of 2.545 (95% CI [1.56, 7.35]). A considerable AVM reduction in one session appears to increase the risk of hemorrhage technically. This suggests a distribution of the interventions in many partial steps.

Preoperative Embolization of Venous Malformations Using n-Butyl Cyanoacrylate.

PubMed

Uller, Wibke; El-Sobky, Sherif; Alomari, Ahmad I; Fishman, Steven J; Spencer, Samantha A; Taghinia, Amir H; Chaudry, Gulraiz

2018-05-01

The purpose of this study was to evaluate the safety and efficacy of preoperative percutaneous n-butyl cyanoacrylate (nBCA) embolization of venous malformations in children. Clinical data were retrospectively reviewed in children who underwent embolization using nBCA followed by resection of venous malformations. A total of 17 embolizations were performed in 14 patients (9 females, mean age: 5.5 years; median age: 3 years; range 0.1-16 years). The venous malformations involved the lower extremity and the knee joint (n = 7), the trunk (n = 4), head and neck (n = 2), and hand (n = 1). n-Butyl cyanoacrylate was diluted with iodized oil at a ratio of 1:3 to 1:5. The mean and median volume of nBCA per procedure were 2.1 and 2 mL, respectively (range: 0.5-8 mL). There were no complications associated with the procedures. The mean and median time between final embolization and resection were 3.6 and 2 days, respectively. All children underwent successful resection of the symptomatic lesions. The estimated mean and median blood loss were 75 and 50 mL, respectively (range: 5-350 mL). The postprocedure course was uneventful, the days to discharge ranged between 1 and 6 days (mean 3 days). Initial results suggest that preoperative percutaneous n-butyl cyanoacrylate embolization of venous malformations is safe and effective in children, with the potential for minimizing blood loss and inpatient stay.

[Orbito-palpebral vascular pathology].

PubMed

Heran Dreyfus, F; Galatoire, O; Koskas, P; Lafitte, F; Nau, E; Bergès, O

2016-11-01

Orbito-palpebral vascular pathology represents 10% of all the diseases of this area. The lesion may be discovered during a brain CT scan or MRI, or because it causes clinical symptoms such as orbital mass, visual or oculomotor alteration, pain, proptosis, or acute bleeding due to a complication of the lesion (hemorrhage, thrombosis). We present these lesions using an anatomical, clinical, imaging and therapeutic approach. We distinguish four different entities. Vascular tumors have common imaging characteristics (hypersignal on T2 sequence, contrast enhancement, abnormal vascularization well depicted with ultrasound and Doppler, and possible bleeding). The main lesions are cavernous hemangiomas, the most frequent lesion of that type during adulthood; infantile hemangiomas, the most frequent vascular tumor in children; and more seldomly, hemangioperitcytomas. True vascular malformations are divided according to their flow. Low flow lesions are venous (orbital varix), capillarovenous or lymphatic (lymphangioma). High flow malformations, more rare, are either arteriovenous or arterial malformations (aneurisms). Complex malformations include both low and high flow elements. Lesions leading to modifications of the orbito-palpebral blood flow are mainly due to cavernous sinus abnormalities, either direct carotid-cavernous fistula affecting young adults after severe head trauma, or dural fistula, more insidious, found in older adults. The last section is devoted to congenital syndromic vascular malformations (Sturge-Weber, Rendu-Olser…). This classification allows for a better understanding of these pathologies and their specific imaging features. Copyright © 2016. Published by Elsevier Masson SAS.

Percutaneous sclerotherapy of massive macrocystic lymphatic malformations of the face and neck using fibrin glue with OK-432 and bleomycin.

PubMed

Chen, W-l; Huang, Z-q; Chai, Q; Zhang, D-m; Wang, Y-y; Wang, H-j; Wang, L; Fan, S

2011-06-01

Picibanil (OK-432) and bleomycin have been used as alternative sclerosing agents for lymphatic malformations. This study evaluated the clinical curative effect of sclerotherapy using fibrin glue combined with OK-432 and bleomycin for the treatment of macrocystic lymphatic malformations of the face and neck. Fifteen paediatric patients (6 males; 9 females, aged 13 months to 14 years) who had received percutaneous sclerotherapy for massive macrocystic lymphatic malformations of the face and neck were retrospectively reviewed. Affected regions included the neck, parotid region and parapharynx, mouth floor, face and cheek, and orbital regions. All patients showed preoperative symptoms of space-occupying lesions between 4 cm × 5 cm and 12 cm × 16 cm in size. Fibrin glue with OK-432 and bleomycin was injected under general anaesthesia. All patients received preoperative and follow-up CT scans. Outcomes were assessed by three surgeons. All patients exhibited mid-facial swelling for 3-4 weeks after surgery, but no major complications. Follow-up periods ranged from 8 to 16 months. Eight lesions were completely involuted, five were mostly involuted, and two were partially involuted. Percutaneous sclerotherapy using fibrin glue with OK-432 and bleomycin provided a simple, safe, and reliable alternative treatment for massive macrocystic lymphatic malformations of the face and neck. Copyright © 2011 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

PP-4 ANORECTAL MALFORMATIONS: MOTILITY STUDIES AND RESPONSE TO BIOFEEDBACK THERAPY.

PubMed

Bigliardi, Roman N; Ditaranto, A; Reynoso, R; Vidal, J H; Messere, G; Toca, M; Silvestri, G; Ortiz, G; Noriega, S; Varela, A

2015-10-01

Anorectal malformations (ARM) are infrequent anatomic defects with a prevalence of 1 each 5000 alive newborns. Most of the patients repaired of this illness have some degree of constipation or fecal incontinence. There are few reports about manometric studies and biofeedback treatment in patients with anorectal malformations. To evaluate of our population's anorectal functionality late after surgery by anorectal manometry; To study the response to diet, toilet training, and/or biofeedback. Anorectal manometry was done in 39 patients with ARM and 35 of them received combinated treatment of diet, toilet training and biofeedback. Age: 6 to 17 years old. Mean age: 8.05 years. Descriptive study. From april 2004 to april 2015. 14 patients had high malformations(36%), 18 had low malformations(46%) and 7 had cloaca(18%). children over 6 years of age with anorectal malformation operated using Peña's technique (postsagittal anorectoplasty). patients with neurological disorders that do not non-compliant with study and treatment indications. Average resting pressure was 28 mmHg(High level 25,5 and Low level 29,8 mmHg), range between 7 and 51 mmHg. Squeezing pressure between 29 and 120 mmHg(mean:69mmHg). Combined treatment of diet, toilet training, and biofeedback was succesfull to get total continence in 22 patients (4 cloacas, 10 high malformations and 8 low malformations), partial continence in 6(all low) and without response in 3(1 low, 1 high and 1 cloaca); 2 patients archived continence only with toilet training and 2 were lost in follow up(T.Fisher: 0,1). In high ARM 8 had positive(+) rectoanal inhibitory reflex(RAIR) and 6 negative(¬). In cloacas it was (+) in 3, (¬) in 3 and doubtful in 1. In low ARM 15(+), 2 (¬) and 1 doubtful. Reflex was obtained with 20 to 60cc of air(mean 31,36). The RRAI duration was 10 to 17 seconds(mean: 13 seconds).From 22 total continent, RAIR was (+) in 13, (¬) in 7 and hazardous in 2. All 6 partially continent had (+) RAIR; and from 3 incontinent, 2 had (+) RAIR and 1 (¬). From succesfully treated, 10 showed low resting pressures at the anal channel and 12 had normal pressures. Squeezing pressure was normal in 35 and negative in 4. 1) RAIR was (+) in most of low malformations, while in high and cloacas only nearly half of them were (+). 2) RAIR and resting pressures at the anal channel were not useful to predict treatment success. 3) Malformation Height was not significant to determine patients outcome. 4) Combined dietary, toilet training and biofeedback therapy was effective for achievement of fecal continence in most of our population.

Onyx embolization of intracranial arteriovenous malformations in pediatric patients.

PubMed

Soltanolkotabi, Maryam; Schoeneman, Samantha E; Alden, Tord D; Hurley, Michael C; Ansari, Sameer A; DiPatri, Arthur J; Tomita, Tadanori; Shaibani, Ali

2013-04-01

The authors undertook this study to assess the safety and efficacy of Onyx embolization in the treatment of intracranial arteriovenous malformations (AVMs) in pediatric patients. All pediatric Onyx embolization of intracranial AVM cases performed consecutively at a single children's hospital over a 5-year period were collected and evaluated. Twenty-five patients (mean age 10.5 years) underwent a total of 38 procedures. An aggregate of 56 pedicles were embolized (mean 1.47 per session). The Spetzler-Martin grade was determined in all cases. Onyx embolization resulted in complete obliteration of the AVM in 3 cases (12%) and partial obliteration in 22 cases (88%). A total of 23 patients underwent surgical treatment. The mean preoperative AVM devascularization in these cases was 72%. One patient was treated with radiosurgery following Onyx embolization. Overall, 10 complications occurred in a total of 38 procedures (26.3%). None of the complications resulted in permanent neurological morbidity. The rate of transient neurological complications was 10.5% (4 of 38 procedures) and the rate of transient nonneurological complications was 5.3% (2 of 38 procedures). The remaining 4 complications were clinically silent (rate of 10.5%). There were no procedure-related deaths in this study population. There was no significant difference in patients with and without complications in terms of demographic characteristics, AVM grade, or embolization features (p ≥ 0.2). Deep venous drainage was associated with higher complication rates (p = 0.03). Onyx utilization is feasible for preoperative or primary embolization in the treatment of pediatric intracranial AVMs; however, the spectrum of complications encountered is broad, and attention must be paid to the technical nuances of and indications for its use to avoid many potential dangerous effects. Although the overall complication rates were higher than expected, all were either clinically silent or had only transient clinical effects. Thus, this experience suggests that Onyx embolization can be performed safely with a low rate of permanent morbidity in pediatric patients harboring these difficult lesions.

Potential ecotoxic effects of polychlorinated biphenyls on Xenopus laevis.

PubMed

Qin, Zhan-Fen; Zhou, Jing-Ming; Cong, Lin; Xu, Xiao-Bai

2005-10-01

We examined potential ecotoxic effects of polychlorinated biphenyl (PCB)3, PCB5, Aroclor 1254, and Aroclor 1242 on Xenopus laevis. Tadpoles were exposed to PCBs from stage 46/47 (system of Nieuwkoop and Faber) to the completion of metamorphosis. We demonstrated, to our knowledge for the first time, forelimb malformations caused by PCBs (malformation rate, > 70%). The malformed forelimbs were fixed in the adduction-backward rotation position and could not move. Therefore, malformed male frogs were destined to have no offspring, because they could not grasp the females with their forelimbs to mate. Alcian blue-alizarin red double-staining indicated that the forelimb malformation resulted from the shoulder abnormality. Compared with the normal shoulder joint, the proximal humerus with the humerus inter-rotated 90 degrees in the abnormal shoulder joint. Moreover, testes from more than a third of male frogs with exposed to PCBs exhibited feminization to different degrees at gross morphology and histology, with fewer or abnormal spermatogonia and oocytes. Gonadal abnormalities would lead directly to reproductive dysfunction and population decline. These results suggest that PCBs have potentially ecotoxic effects on amphibian populations. We infer that PCBs could play roles in amphibian malformations and population declines, at least at sites that are polluted heavily with PCBs.

A Review of Vascular Abnormalities of the Spine

PubMed Central

Singh, Rahul; Lucke-Wold, Brandon; Gyure, Kymberly; Boo, Sohyun

2017-01-01

Patients with spinal vascular lesions present with unique symptoms and have important anatomical and physiologic changes that must be considered prior to treatment. In this mini-review, we provide an overview of normal spinal vascular anatomy and discuss several key spinal vascular lesions. We provide an overview of cavernous malformations, intradural arteriovenous malformations, perimedullary arteriovenous fistulas, and dural arteriovenous fistulas. Important considerations are addressed in terms of pathologic characterization, specific imaging findings, and treatment approaches. PMID:28191502

Evidence that the notochord may be pivotal in the development of sacral and anorectal malformations.

PubMed

Qi, Bao Quan; Beasley, Spencer W; Frizelle, Francis A

2003-09-01

The notochord is known to organize normal development of central axial structures, such as the spinal cord, vertebral column, and anorectum, but its role in abnormal development of these organs has not been well documented. The current study has used Ethylenethiourea to induce anorectal malformations in fetal rats, allowing investigation of abnormalities of the notochord and their relationship to the axial structural abnormalities that occur. Timed-mated pregnant rats were fed Ethylenethiourea by gavage on gestational day 10. Their embryos were harvested on gestational days 13 to 16 and sectioned in either the transverse or sagittal plane. Sections were stained with H and E and examined serially. Anorectal malformations were identified in 29 of 34 embryos and neural tube defects in 24, ranging from an accessory neural tube to lumbo-sacral rachischisis. There was no tail or only a rudimentary tail in the majority of embryos. Abnormalities of the notochord in the lumbo-sacral area included ventro-dorsal branching, ventral deviation, and ectopic notochordal tissue. Most abnormal notochord branches and ectopic notochordal tissue were abnormally close to or in contact with the wall of the cloaca or neural tube. Given the known role of the notochord in controlling normal development, this study would suggest that abnormal notochord development may be pivotal in producing neural tube defects and anorectal malformations, possibly by altering sonic hedgehog signalling.

The prevalence of lumbar spondylolysis in young children: a retrospective analysis using CT.

PubMed

Lemoine, Thibaut; Fournier, Joseph; Odent, Thierry; Sembély-Taveau, Catherine; Merenda, Pauline; Sirinelli, Dominique; Morel, Baptiste

2018-05-01

Although lumbar spondylolysis is encountered in general population with an incidence estimated to be 3-10%, limited information is available for children. The aim of the study is to determine the prevalence of spondylolysis according to associated vertebral bony malformation and spinopelvic parameters in children under eight requiring CT evaluation for unrelated lumbar conditions. Seven hundred and seventeen abdominal and pelvic multi-detector CT scans were obtained in patients under 8 years of age were reviewed. Two board certificated radiologists and two resident radiologists retrospectively evaluated CT scans for lumbar spondylolysis and associated malformations. Pelvic incidence and spondylolisthesis were reported. Our analysis included 717 CT scans in 532 children (259 girls and 273 boys). Twenty-five cases of spondylolysis were diagnosed (16 bilateral and 9 unilateral, 64 and 36%, respectively) in 14 boys (56%) and 11 girls (44%), associating with 12 grade I spondylolisthesis. The mean normal pelvic incidence was 45° (median 44°, SD 7°). The prevalence of spondylolysis was 1% in children under age 3 (n = 3 among 292 patients), 3.7% in children under age 6 (n = 17 among 454 patients) and 4.7% among the 532 patients. Unilateral spondylolysis was significantly associated with a spinal malformation (p = 0.04, Fisher's exact test), with normal pelvic incidence. Half of the patients with bilateral spondylolysis had high pelvic incidence. We observed a prevalence peak of unilateral spondylolysis in the context of a specific malformation in young infants under age 4 with normal pelvic incidence, and, then, a progressive increase in the prevalence of bilateral isolated spondylolysis.

Multiple factors correlating with wing malformations in the population of Parnassius apollo (Lepidoptera: Papilionidae) restituted from a low number of individuals: A mini review.

PubMed

Pierzynowska, Karolina; Skowron Volponi, Marta; Węgrzyn, Grzegorz

2017-11-02

The Apollo butterfly, Parnassius apollo (Linnaeus), was common in Europe over 100 years ago, but currently it is considered as near threatened. Different conservation programs have promoted the persistence of this species; however, it is still endangered. An example of such programs was the action devoted to reestablish the Apollo butterfly population in Pieniny National Park (Poland) from only 20-30 individuals which had survived till the last decade of the 20th century. This reintroduction has been successful; however, unexpected developmental problems appeared. Butterflies with deformed or reduced wings became frequent in the population living in the natural habitat, and particularly among those reared under seminatural conditions (in the same environment, but fenced by a net). Until recently, reasons for these malformations remained unknown. However, reports published during last months indicated that there are genetic, biochemical, and microbiological factors contributing to this phenomenon. In the malformed individuals, lesions in the wingless gene and dysfunctions of laccase 1 and 2 were found to be significantly more frequent than in normal insects. A large fraction of butterflies with deformed or reduced wings was devoid of the prokaryotic symbiont Wolbachia, which was present in most normal individuals. Moreover, Yersinia pseudotuberculosis (Pfeiffer) Smith and Thal, and Serratia sp., bacteria pathogenic to insects, were detected in the biological material from both normal and malformed butterflies from this population. These findings are summarized and discussed in this review, in the light of conservation of insects and restitution of their populations from a low number of individuals. © 2017 Institute of Zoology, Chinese Academy of Sciences.

Congenital Dandy Walker malformation associated with first trimester warfarin: a case report and literature review.

PubMed

Kaplan, L C

1985-12-01

While the warfarin embryopathy is well defined, central nervous system abnormalities associated with gestational warfarin exposure require further definition. Based on the timing of warfarin exposure in humans, it has been proposed that second- and third-trimester exposure predisposes to CNS abnormalities while first-trimester exposure more typically is associated with the warfarin embryopathy. A case is presented of a liveborn male with Dandy Walker malformation, agenesis of the corpus callosum, and Peter anomaly of the right eye who was exposed to warfarin between the 8th and 12th weeks of gestation who had none of the stigmata of the warfarin embryopathy. His is the first known case of exposure confined to the first trimester, and the fifth case of Dandy Walker malformation among a total of 15 CNS cases associated with this drug. This case offers evidence that Dandy Walker malformation may represent a distinct complication of in utero first-trimester exposure, and consideration of these particular abnormalities with exposure limited to a period prior to the known appearance of vitamin K-dependent clotting factors suggests that warfarin has a direct teratogenic effect on central nervous system morphogenesis.

Automatic localization of cerebral cortical malformations using fractal analysis.

PubMed

De Luca, A; Arrigoni, F; Romaniello, R; Triulzi, F M; Peruzzo, D; Bertoldo, A

2016-08-21

Malformations of cortical development (MCDs) encompass a variety of brain disorders affecting the normal development and organization of the brain cortex. The relatively low incidence and the extreme heterogeneity of these disorders hamper the application of classical group level approaches for the detection of lesions. Here, we present a geometrical descriptor for a voxel level analysis based on fractal geometry, then define two similarity measures to detect the lesions at single subject level. The pipeline was applied to 15 normal children and nine pediatric patients affected by MCDs following two criteria, maximum accuracy (WACC) and minimization of false positives (FPR), and proved that our lesion detection algorithm is able to detect and locate abnormalities of the brain cortex with high specificity (WACC  =  85%, FPR  =  96%), sensitivity (WACC  =  83%, FPR  =  63%) and accuracy (WACC  =  85%, FPR  =  90%). The combination of global and local features proves to be effective, making the algorithm suitable for the detection of both focal and diffused malformations. Compared to other existing algorithms, this method shows higher accuracy and sensitivity.

Automatic localization of cerebral cortical malformations using fractal analysis

NASA Astrophysics Data System (ADS)

De Luca, A.; Arrigoni, F.; Romaniello, R.; Triulzi, F. M.; Peruzzo, D.; Bertoldo, A.

2016-08-01

Malformations of cortical development (MCDs) encompass a variety of brain disorders affecting the normal development and organization of the brain cortex. The relatively low incidence and the extreme heterogeneity of these disorders hamper the application of classical group level approaches for the detection of lesions. Here, we present a geometrical descriptor for a voxel level analysis based on fractal geometry, then define two similarity measures to detect the lesions at single subject level. The pipeline was applied to 15 normal children and nine pediatric patients affected by MCDs following two criteria, maximum accuracy (WACC) and minimization of false positives (FPR), and proved that our lesion detection algorithm is able to detect and locate abnormalities of the brain cortex with high specificity (WACC  =  85%, FPR  =  96%), sensitivity (WACC  =  83%, FPR  =  63%) and accuracy (WACC  =  85%, FPR  =  90%). The combination of global and local features proves to be effective, making the algorithm suitable for the detection of both focal and diffused malformations. Compared to other existing algorithms, this method shows higher accuracy and sensitivity.

Folliculosebaceous cystic hamartoma with a neural component: an immunohistochemical study.

PubMed

Toyoda, M; Morohashi, M

1997-07-01

We present a case of follicular cystic hamartoma, a distinctive cutaneous malformation characterized by marked overgrowth of folliculosebaceous units accompanied by appreciable mesenchymal alterations, including fibroplasia, increased vascular components, and numerous adipocytes. A conspicuous feature of our case is an aggregation of thick trespassing nerve bundles in the deep portion of the neoplasm. An immunohistochemical study revealed the nerve bundles were immunoreactive for the general neuronal marker protein gene product 9.5. The nerves, however, stained negatively with antibodies against neuropeptides such as calcitonin gene-related peptide, substance P, vasoactive intestinal polypeptide, and neuropeptide Y, all of which are known to be contained in normal cutaneous nerves. The presence of these aberrant nerve bundles devoid of the normal expression of neuropeptides supports the concept that folliculosebaceous cystic hamartoma is a true, tumor-like malformation characterized by abnormal overgrowth of normal components of the skin.

Holoprosencephaly with Dandy-Walker cyst. Rare coexistence of two major malformations.

PubMed

Kurokawa, Y; Tsuchita, H; Sohma, T; Kitami, K; Takeda, T; Hattori, S

1990-01-01

A case of holoprosencephaly associated with Dandy-Walker cyst is reported. The patient was a male baby whose mother had normal serum titers for toxoplasma, syphilis, rubella and hepatitis B. She had no history of diabetes mellitus, administration of drugs or irradiation during the pregnancy. At the 8th month of gestation, fetal hydrocephalus was diagnosed by ultrasonic imaging. He was delivered by caesarean section at 34 weeks and 4 days, weighing 2,644 g. His head circumference was 42 cm; the anterior fontanel was not distended and its tension was normal. The chromosomal karyotype was a normal 46 XY. X-ray CT showed a large dorsal sac cyst in the supratentorial space and a hypoplastic cerebellum with a large cyst in the posterior fossa. He received a cyst-peritoneal shunt 24 days after birth. After this procedure, his head enlargement was arrested. We discuss the etiology of this rare coexistence of two major malformations.

Easier to swallow: pictorial review of structural findings of the pharynx at barium pharyngography.

PubMed

Tao, Ting Y; Menias, Christine O; Herman, Thomas E; McAlister, William H; Balfe, Dennis M

2013-01-01

Barium pharyngography remains an important diagnostic tool in the evaluation of patients with dysphagia. Pharyngography can not only help detect functional abnormalities but also help identify a wide spectrum of structural abnormalities in children and adults. These structural abnormalities may reflect malignant or nonmalignant oropharyngeal, hypopharyngeal, or laryngeal processes that deform or alter normal coated mucosal surfaces. Therefore, an understanding of the normal appearance of the pharynx at contrast material-enhanced imaging is necessary for accurate detection and interpretation of abnormal findings. Congenital malformations are more typically identified in the younger population; inflammatory and infiltrative diseases, trauma, foreign bodies, and laryngeal cysts can be seen in all age groups; and Zenker and Killian-Jamieson diverticula tend to occur in the older population. Squamous cell carcinoma is by far the most common malignant process, with contrast-enhanced imaging findings that depend on tumor location and morphology. Treatments of head and neck cancers include total laryngectomy and radiation therapy, both of which alter normal anatomy. Patients are usually evaluated immediately after laryngectomy to detect complications such as fistulas; later, pharyngography is useful for identifying and characterizing strictures. Deviation from the expected posttreatment appearance, such as irregular narrowing or mucosal nodularity, should prompt direct visualization to evaluate for recurrence. Contrast-enhanced imaging of the pharynx is commonly used in patients who present with dysphagia, and radiologists should be familiar with the barium pharyngographic appearance of the normal pharyngeal anatomy and of some of the processes that alter normal anatomy. © RSNA, 2013.

Utility of indocyanine green videoangiography in subcortical arteriovenous malformation resection.

PubMed

Rustemi, Oriela; Scienza, Renato; Della Puppa, Alessandro

2017-07-01

Subcortical arteriovenous malformations (AVMs) are surgically challenging. Localization is crucial for eloquent areas, and complete resection evaluation is uncertain. Indocyanine green videoangiography (ICG-VA) can assist this surgery. An illustrative video of a subcortical frontoparietal bleeding AVM resection assisted by ICG-VA is presented. A bleeding arterial feeder aneurysm was embolized in the acute phase to protect against rebleeding. ICG-VA helped to detect the AVM's superficial arterialized draining vein, distinguishing it from normal cortical veins. This enabled a customized sulcus approach. ICG-VA showed normalized flow through the previously arterialized vein, confirming the AVM's complete resection. This applies when there is a single drainage remaining. The video can be found here: https://youtu.be/L7yJEE66kV0 .

Single olfactory organ associated with prosencephalic malformation and cyclopia in a Xenopus laevis tadpole.

PubMed

Magrassi, L; Graziadei, P P

1987-06-02

A cyclops Xenopus laevis tadpole with a single olfactory organ is described. At a stage comparable to 48, the telencephalon was severely atrophic and only the region where the olfactory fibres terminated appeared to have the cytoarchitecture of the olfactory bulb. In this animal the central nervous system (CNS) appeared normally developed only posterior to the preoptic area. The hypothesis of a diencephalic origin of the region where the olfactory fibres terminated is discussed in the light of our previous results of olfactory placode transplantation. By analogy between this case and other malformations (cyclopia, holoprosencephaly) in higher vertebrates and humans, the need is emphasized for a more precise anatomical description of the olfactory input in related malformations.

Dandy-Walker malformation: analysis of 38 cases.

PubMed

Pascual-Castroviejo, I; Velez, A; Pascual-Pascual, S I; Roche, M C; Villarejo, F

1991-04-01

Thirty-eight cases of Dandy-Walker malformation (DWM) are presented. A female predominance of 3:1 was found. Thirty-two cases (84%) were diagnosed within the 1st year of life. Of these, 17 cases (44.7%) were diagnosed at birth. Ten (26%) were delivered by cesarean section. Thirteen infants (34%) had a birth weight below 3000 g. Several associated malformations were observed, the most frequent being capillary angioma (6 cases); cardiac malformations, ophthalmic anomalies, agenesis of the corpus callosum, malformed limbs, and occipital meningocele were also seen. These observations indicate that DWM represents a disorder of the midline central nervous system indicative of marked genetic and etiologic heterogeneity with the possibility of showing clinical and pathological alterations intra- and extracranially. Macrocephaly was the most frequent physical finding, appearing in 31 cases (82%). Seventeen (44.7%) patients died, 11 before 6 months of age, 3 between 6 and 12 months, and 3 after 1 year. Postmortem studies were performed in 13 patients. Three cases have been lost to follow-up. Mental retardation (IQ below 70) was found in 11 cases (58% of survivors), low intellect (IQ between 70 and 85) in 4, and only 2 patients showed normal intellectual development (IQ more than 85). The high incidence of malformations having several genetic and environmental origins, as well as the high early mortality of patients with DWM, indicate the complexity of this syndrome, which involves the midline developmental field structures. It is not an isolated malformation of the posterior fossa in most cases.

Percutaneous Embolization of Congenital Portosystemic Venous Fistula in an Infant with Down Syndrome

PubMed Central

Tanya Chun, Pattaraporn; Files, Matthew; Vo, Nghia; McAdams, Ryan M.

2013-01-01

Congenital intrahepatic portosystemic venous shunts are rare vascular malformations often associated with severe complications. We describe a term male infant with Down syndrome with high output heart failure secondary to a congenital arterial to portal venous fistula that was diagnosed by Doppler ultrasound. Percutaneous embolizations of the left hepatic vein, portal vein, and communicating fistulas were performed without complications, resulting in clinical improvement. A subsequent hepatic ultrasound demonstrated resolution of the pathologic fistulous communication and shunting effects. PMID:24171135

Macrosomic newborns of non-diabetic mothers: anthropometric measurements and neonatal complications.

PubMed

Linder, N; Lahat, Y; Kogan, A; Fridman, E; Kouadio, F; Melamed, N; Yogev, Y; Klinger, G

2014-09-01

To assess the association of anthropometric measurements with neonatal complications in macrosomic newborns of non-diabetic mothers. Retrospective cohort study. All liveborn, singleton, full term newborns with birth weight ≥4000 g born to non-diabetic mothers at a tertiary medical centre in 1995-2005 (n=2766, study group) were matched to the next born, healthy, full term infant with a birth weight of 3000-4000 g (control group). Exclusion criteria were multiple birth, congenital infection, major malformations and pregnancy complications. Data collection by file review. Complication rates were compared between study and control groups and between symmetric and asymmetric macrosomic newborns, defined by weight/length ratio (WLR), Body Mass Index and Ponderal Index. The 2766 non-diabetic macrosomic infants identified were matched to 2766 control infants. The macrosomic group had higher rates of hypoglycaemia (1.2% vs 0.5%, p=0.008), transient tachypnoea of the newborn (1.5% vs 0.5%, p<0.001), hyperthermia (0.6% vs 0.1%, p=0.012), and birth trauma (2% vs 0.7%, p<0.001), with no cases of symptomatic polycythaemia, and only one case of hypoglycaemia. Hypoglycaemia was positively associated with birth weight. It was significantly higher in the asymmetric than the symmetric macrosomic newborns, defined by WLR (1.7% vs 0.3%, p<0.001). Macrosomic infants of non-diabetic mothers are at increased risk of neonatal complications. However, routine measurements of haematocrit and calcium may not be necessary. Symmetric macrosomic infants (by WLR) have a similar rate of hypoglycaemia as normal-weight infants. Thus, repeat glucose measurements in symmetric macrosomic infants are not justified. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Management of small arteriovenous malformations of the brain.

PubMed

Morgan, M K; Davidson, J; Sorby, W; Grinnell, V

1995-10-01

A consecutive series of arteriovenous malformations of the brain, no greater than 3 cm in diameter, referred to the author between January 1989 and October 1994 is reviewed. Of these 42 cases 39 underwent surgical excision of the lesion. The surgical group had mortality, 2.5% morbidity and 100% angiographic cure. Surgery in non-eloquent brain (n=21) resulted in no neurological morbidity and surgery in eloquent brain (n=18) resulted in a 5.5% neurological morbidity. The reason for not operating in three cases was elderly age in one, poor neurological condition in one, and involvement of the posterior limb of the internal capsule in one. Arteriovenous malformations with diameters no greater than 3 cm are considered by some to be suitable for treatment by focussed irradiation. However, surgery is likely to remain the more effective and safer mode of treatment for the majority of cases when factoring in the expected complications of focussed irradiation during the latency period. These risks are discussed.

Nd:YAG laser therapy for rectal and vaginal venous malformations.

PubMed

Gurien, Lori A; Jackson, Richard J; Kiser, Michelle M; Richter, Gresham T

2017-08-01

Limited therapeutic options exist for rectal and vaginal venous malformations (VM). We describe our center's experience using Nd:YAG laser for targeted ablation of abnormal veins to treat mucosally involved pelvic VM. Records of patients undergoing non-contact Nd:YAG laser therapy of pelvic VM at a tertiary children's hospital were reviewed. Symptoms, operative findings and details, complications, and outcomes were evaluated. Nine patients (age 0-24) underwent Nd:YAG laser therapy of rectal and/or vaginal VM. Rectal bleeding was present in all patients and vaginal bleeding in all females (n = 5). 5/7 patients had extensive pelvic involvement on MRI. Typical settings were 30 (rectum) and 20-25 W (vagina), with 0.5-1.0 s pulse duration. Patients underwent the same-day discharge. Treatment intervals ranged from 14 to 180 (average = 56) weeks, with 6.1-year mean follow-up. Five patients experienced symptom relief with a single treatment. Serial treatments managed recurrent bleeding successfully in all patients, with complete resolution of vaginal lesions in 40% of cases. No complications occurred. Nd:YAG laser treatment of rectal and vaginal VM results in substantial improvement and symptom control, with low complication risk. Given the high morbidity of surgical resection, Nd:YAG laser treatment of pelvic VM should be considered as first line therapy.

Classification and Current Management of Inner Ear Malformations.

PubMed

Sennaroğlu, Levent; Bajin, Münir Demir

2017-09-29

Morphologically congenital sensorineural hearing loss can be investigated under two categories. The majority of congenital hearing loss causes (80%) are membranous malformations. Here, the pathology involves inner ear hair cells. There is no gross bony abnormality and, therefore, in these cases high-resolution computerized tomography and magnetic resonance imaging of the temporal bone reveal normal findings. The remaining 20% have various malformations involving the bony labyrinth and, therefore, can be radiologically demonstrated by computerized tomography and magnetic resonance imaging. The latter group involves surgical challenges as well as problems in decision-making. Some cases may be managed by a hearing aid, others need cochlear implantation, and some cases are candidates for an auditory brainstem implantation (ABI). During cochlear implantation, there may be facial nerve abnormalities, cerebrospinal fluid leakage, electrode misplacement or difficulty in finding the cochlea itself. During surgery for inner ear malformations, the surgeon must be ready to modify the surgical approach or choose special electrodes for surgery. In the present review article, inner ear malformations are classified according to the differences observed in the cochlea. Hearing and language outcomes after various implantation methods are closely related to the status of the cochlear nerve, and a practical classification of the cochlear nerve deficiency is also provided.

An endovascular option is the final treatment for a giant arteriovenous malformation.

PubMed

Benedetto, Filippo; Pipitò, Narayana; Barillà, David; Spinelli, Domenico; Stilo, Francesco; Spinelli, Francesco

2014-11-01

We report the case of a 58-year-old man presented with bleeding ulcer of the left arm caused by a high-flow type-C arteriovenous malformation (AVM), feed by branches from both the subclavian arteries. He had been previously treated with AVM sclerotherapy, embolization, humeral artery endografting, and open surgery. We urgently performed coil embolization of the left vertebral artery, and we covered the huge subclavian artery by a thoracic endograft. Then, we embolized the right tyrocervical trunk. The result was an immediate interruption of bleeding. At 12 months, the patient had no neurologic complications, and the upper limb continued to decompress. Copyright © 2014 Elsevier Inc. All rights reserved.

Lumbar subdural cerebrospinal fluid collection with acute cauda equina syndrome after posterior fossa decompression for Chiari malformation Type I: case report.

PubMed

Darwish, Houssein A; Oldfield, Edward H

2016-09-01

This report describes the circumstances of a patient with a cauda equina syndrome due to the development of a lumbar subdural CSF collection with ventral displacement of the cauda equina shortly following posterior fossa decompression for Chiari malformation Type I (CM-I). This unusual, but clinically significant, complication was successfully treated with percutaneous drainage of the extraarachnoid CSF collection. Although there are a few cases of intracranial subdural hygroma developing after surgery for CM-I, often attributed to a pinhole opening in the arachnoid, as far as the authors can determine, a spinal subdural hygroma associated with surgery for CM-I has not been recognized.

Rescue N-butyl-2 cyanoacrylate embolectomy using a Solitaire FR device after venous glue migration during arteriovenous malformation embolization: technical note.

PubMed

Fahed, Robert; Clarençon, Frédéric; Sourour, Nader-Antoine; Chauvet, Dorian; Le Jean, Lise; Chiras, Jacques; Di Maria, Federico

2016-07-01

One of the procedural risks in arteriovenous malformation (AVM) embolization is possible migration of the embolic agent into the venous drainage with an incomplete nidus occlusion, which may lead to severe hemorrhagic complications. This report presents the case of a 29-year-old man who presented with a deep intraparenchymal hematoma on the left side secondary to the spontaneous rupture of a claustral AVM. Upon resorption of the hematoma, the patient underwent an initial therapeutic session of N-butyl-2 cyanoacrylate endovascular embolization, with the purpose of reducing the AVM volume and flow before performing Gamma Knife radiosurgery. After glue injection into one of the arterial feeders, the control angiography showed a partial migration of the glue cast into the straight sinus, with most of the nidus still visible. Because of the bleeding risk due to possible venous hypertension, it was decided to try to retrieve the glue from the vein by using a stent retriever via jugular access. This maneuver allowed a nearly complete removal of the glue cast, thereby restoring normal venous flow drainage. The patient showed no clinical worsening after the procedure. To the authors' knowledge, this is the first report of the use of the Solitaire FR device as a rescue glue retriever. This method should be considered by physicians in cases of unintended glue migration into the venous circulation during AVM embolization.

Temporal lobe developmental malformations and epilepsy: dual pathology and bilateral hippocampal abnormalities.

PubMed

Ho, S S; Kuzniecky, R I; Gilliam, F; Faught, E; Morawetz, R

1998-03-01

Temporal lobe developmental malformations (TLDM) with focal cortical dysplasia and balloon cells may coexist with mesial temporal sclerosis. The true incidence of this dual pathology is unknown. Our aim was to assess the frequency of amygdala (AM)-hippocampal abnormality in a homogeneous population with this specific developmental malformation. MRI-based volumetry of the AM and hippocampal formation (HF) in 30 patients with unilateral TLDM and intractable partial epilepsy was performed. A volume normalization process defined a normal range of HF and AM volumes in control subjects, and enabled the detection of bilateral volume loss. Normalized volumes detected HF atrophy in 26 patients (nine unilateral and 17 bilateral) and AM atrophy in 18 patients (three unilateral and 15 bilateral). Visual analysis detected unilateral HF abnormality in 21 patients and bilateral abnormality in two. When compared with a group of patients with temporal lobe epilepsy and pure hippocampal sclerosis (N = 92), where volumetry revealed bilateral HF atrophy in 18%, a significant difference in the frequency of bilateral HF atrophy was found (p < 0.0001). Dual pathology is frequent in patients with TLDM (87%), and the AM-HF abnormality is often bilateral (57%). Our data suggest that more widespread and potentially epileptogenic lesions coexist with visibly detectable unilateral TLDM. This has implications for the selection of patients for temporal lobe surgery and may influence surgical strategies.

Arteriovenous malformation of the external ear: a clinical assessment with a scoping review of the literature.

PubMed

Kim, Shin Hye; Han, Seung Hoon; Song, Yoonjae; Park, Chang Sik; Song, Jae-Jin

Auricular Arteriovenous Malformation of the external ear is a rarely encountered disease; in particular, arteriovenous malformation arising from the auricle, with spontaneous bleeding, has seldom been reported. In the current study, we report an unusual case of late-onset auricular arteriovenous malformation originating from the posterior auricular artery that was confirmed by computed tomographic angiography. The case was successfully managed by pre-surgical intravascular embolization followed by total lesion excision. Prompted by this case, we also present a scoping review of the literature. A case of a 60 year-old man with right auricular arteriovenous malformation treated in our tertiary care center, and 52 patients with auricular arteriovenous malformation described in 10 case reports and a retrospective review are presented. Auricular arteriovenous malformation can manifest as swelling of the ear, pulsatile tinnitus, pain, and/or bleeding. On physical examination, a pulsatile swelling and/or a tender mass is evident. When arteriovenous malformation is suspected, the lesions should be visualized using imaging modalities that optimally detect vascular lesions, and managed via embolization, mass excision, or auricular resection. Effectiveness of the various diagnostic methods used and the treatment outcomes were analyzed. Various imaging modalities including Doppler sonography, computed tomographic angiography, magnetic resonance angiography, and/or transfemoral cerebral angiography were used to diagnose 38 cases reported in the literature. In another 15 cases, no imaging was performed; treatment was determined solely by physical examination and auscultation. Of the total of 53 cases, 12 were not treated (their symptoms were merely observed) whereas 20 underwent therapeutic embolization. In total, 32 patients, including 1 patient who was not treated and 10 with persistent or aggravated arteriovenous malformation after previous embolization, underwent mass excision or auricular resection depending on the extent of the lesion. No major postoperative complication was recorded. The postoperative follow-up duration varied from 1 month to 19 years, and only one case of unresectable, residual cervicofacial arteriovenous malformation was recorded. Auricular arteriovenous malformation is a rarely encountered disease, but should be suspected if a patient presents with a swollen ear and pulsatile tinnitus. Appropriate imaging is essential for diagnosis and evaluation of the extent of disease. As embolization affords only relatively poor control, total surgical removal of the vascular mass is recommended. Copyright © 2016 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Major diagnostic and pathological features of iniencephaly based on twenty-four cases.

PubMed

Joó, József Gábor; Beke, Artúr; Papp, Csaba; Szigeti, Zsanett; Csaba, Akos; Papp, Zoltán

2008-01-01

Iniencephaly is quite a rare malformation the etiology of which is still not fully understood. In the majority of cases it is a grave and lethal condition. It is often complicated by other abnormalities affecting the central nervous system (spina bifida, anencephaly), but malformations involving other organs and systems may also be observed. Based on 24 cases the authors have surveyed the diagnostics of iniencephaly with special regard to the disorders affecting the central and non-central nervous systems. In addition, they have compared the results of prenatal diagnostics and pathological investigations. In the sample, maternal age ranged between 17 and 42 (median 24) years. Positive obstetrical-gynecological and genetic findings in the patients' history have been reported in 4 and 2 cases, respectively. In these cases, the maternal serum alpha-fetoprotein (AFP) values ranged between 0.7 and 3.9 (median 2.0) MoM, while the amniotic fluid AFP values were between 0.9 and 2.7 (median 1.4) MoM. Spina bifida (50%) and anencephaly (42%) were the most commonly occurring complications affecting the central nervous system. Among the non-central nervous system disorders, malformations of the abdominal (omphalocele) and thoracic walls (diaphragmatic hernia) were found most frequently and the tendency to develop associated polyhydramnios was also very high (75%). Pathological investigations revealed developmental disorders such as cleft lip and palate, ventricular septal defect and facial dysmorphism, which are difficult to detect using ultrasonography. Copyright 2008 S. Karger AG, Basel.

Two-Port Laparoscopic Descending Colostomy with Separated Stomas for Anorectal Malformations in Newborns.

PubMed

Gine, Carlos; Santiago, Saioa; Lara, Alba; Laín, Ana; Lane, Victoria Alison; Wood, Richard J; Levitt, Marc

2016-10-01

Introduction  We describe a two-port laparoscopic technique to create a colostomy in the descending colon with separated stomas for newborns with anorectal malformations. Material and Methods  Six patients with an anorectal malformation underwent this procedure in the early-neonatal period. The surgical technique was performed with two ports, which allows for an accurate inspection of the abdominal contents. The first loop of the sigmoid colon is grasped through the first port and exteriorized while the attachments to the left retroperitoneum and direction of the loop are checked with the scope introduced in the second port. The division of the colon is performed extracorporally, the colon irrigated of meconium, and the distal colon moved to the second port incision. Both stomas are then fixed to the abdominal wall. Results  The time of the procedure ranged from 50 to 90 minutes. A Mullerian duplication was noted in one case. Oral intake was started during the first 12 to 24 hours. No complications were seen during or after the procedure. Conclusions  This technique allows for the precise localization of the colostomy with direct visualization, provides for the inspection of the internal genitalia, eliminates the incision between the two stomas and its complications, allows for painless stoma bag changes immediately after surgery, avoids twisting of the colostomy, and permits a cosmetically pleasing incision at the colostomy closure. Georg Thieme Verlag KG Stuttgart · New York.

Subdural Fluid Collection and Hydrocephalus After Foramen Magnum Decompression for Chiari Malformation Type I: Management Algorithm of a Rare Complication.

PubMed

Rossini, Zefferino; Milani, Davide; Costa, Francesco; Castellani, Carlotta; Lasio, Giovanni; Fornari, Maurizio

2017-10-01

Chiari malformation type I is a hindbrain abnormality characterized by descent of the cerebellar tonsils beneath the foramen magnum, frequently associated with symptoms or brainstem compression, impaired cerebrospinal fluid circulation, and syringomyelia. Foramen magnum decompression represents the most common way of treatment. Rarely, subdural fluid collection and hydrocephalus represent postoperative adverse events. The treatment of this complication is still debated, and physicians are sometimes uncertain when to perform diversion surgery and when to perform more conservative management. We report an unusual occurrence of subdural fluid collection and hydrocephalus that developed in a 23-year-old patient after foramen magnum decompression for Chiari malformation type I. Following a management protocol, based on a step-by-step approach, from conservative therapy to diversion surgery, the patient was managed with urgent external ventricular drainage, and then with conservative management and wound revision. Because of the rarity of this adverse event, previous case reports differ about the form of treatment. In future cases, finding clinical and radiologic features to identify risk factors that are useful in predicting if the patient will benefit from conservative management or will need to undergo diversion surgery is only possible if a uniform form of treatment is used. Therefore, we believe that a management algorithm based on a step-by-step approach will reduce the use of invasive therapies and help to create a standard of care. Copyright © 2017 Elsevier Inc. All rights reserved.

Lower genital tract lesions requiring surgical intervention in girls: perspective from a developing country.

PubMed

Ekenze, Sebastian O; Mbadiwe, Okezie M; Ezegwui, Hyginius U

2009-10-01

To determine the spectrum, outcome of treatment and the challenges of managing surgical lesions of lower genital tract in girls in a low-resource setting. Retrospective study of 87 girls aged 13-years and younger, with lower genital tract lesions managed between February 2002 and January 2007 at the University of Nigeria Teaching Hospital, Enugu, southeastern Nigeria. Clinical charts were reviewed to determine the types, management, outcome of treatment and management difficulties. The median age at presentation was 1 year (range 2 days-13 years). Congenital lesions comprised 67.8% and acquired lesions 32.2%. The lesions included: masculinized external genitalia (24), vestibular fistula from anorectal malformation (23), post-circumcision labial fusion (12), post-circumcision vulval cyst (6), low vaginal malformations (6), labial adhesion (5), cloacal malformation (3), bifid clitoris (3) urethral prolapse (3), and acquired rectovaginal fistula (2). Seventy-eight (89.7%) had operative treatment. Procedure related complications occurred in 19 cases (24.4%) and consisted of surgical wound infection (13 cases), labial adhesion (4 cases) and urinary retention (2 cases). There was no mortality. Overall, 14 (16.1%) abandoned treatment at one stage or another. Challenges encountered in management were inadequate diagnostic facilities, poor multidisciplinary collaboration and poor patient follow up. There is a wide spectrum of lower genital lesion among girls in our setting. Treatment of these lesions may be challenging, but the outcome in most cases is good. High incidence of post-circumcision complications and poor treatment compliance may require more efforts at public enlightenment.

Managing type 1 diabetes mellitus in pregnancy--from planning to breastfeeding.

PubMed

Ringholm, Lene; Mathiesen, Elisabeth R; Kelstrup, Louise; Damm, Peter

2012-11-01

Type 1 diabetes mellitus in pregnant women increases the risk of adverse outcomes for mother and offspring. Careful preconception counselling and screening is important, with particular focus on glycaemic control, indications for antihypertensive therapy, screening for diabetic nephropathy, diabetic retinopathy and thyroid dysfunction, as well as review of other medications. Supplementation with folic acid should be initiated before conception in order to minimize the risk of fetal malformations. Obtaining and maintaining tight control of blood glucose and blood pressure before and during pregnancy is crucial for optimizing outcomes; however, the risk of severe hypoglycaemia during pregnancy is a major obstacle. Although pregnancy does not result in deterioration of kidney function in women with diabetic nephropathy and normal serum creatinine levels, pregnancy complications such as pre-eclampsia and preterm delivery are more frequent in these women than in women with T1DM and normal kidney function. Rapid-acting insulin analogues are considered safe to use in pregnancy and studies on long-acting insulin analogues have provided reassuring results. Immediately after delivery the insulin requirement declines to approximately 60% of the prepregnancy dose, and remains 10% lower than before pregnancy during breastfeeding.

Preoperative sclerotherapy of facial venous malformations: impact on surgical parameters and long-term follow-up.

PubMed

James, Charles A; Braswell, Leah E; Wright, Lonnie B; Roberson, Paula K; Moore, Mary B; Waner, Milton; Buckmiller, Lisa M

2011-07-01

To analyze the operative benefit of preoperative sclerotherapy of facial venous malformations and assess long-term patient outcome. Preoperative sclerotherapy was performed in 24 consecutive patients referred before resection of facial venous malformation. Pretreatment imaging was reviewed for malformation dimensions (length, width, and height), and volumes were estimated. Sclerotherapy was performed with 3% sodium tetradecyl in the first 15 patients and 98% dehydrated alcohol in the remaining 9 patients. Operative blood loss, operative time, transfusion requirement, and hospital stay were recorded. Operative time per lesion volume and operative blood loss per lesion volume were calculated. Results were compared with 15 historical control patients who underwent resection of facial venous malformations without preoperative sclerotherapy. Long-term follow-up of study and control patients was performed. Compared with controls, patients undergoing preoperative venous sclerotherapy were significantly older (P = .0206) and had larger lesions in all three dimensions (height, P = .0002; length, P = .0010; width, P = .0004). Patients receiving sclerotherapy had shorter operative time per lesion volume (P < .0001) and reduced blood loss per lesion volume (P < .0001). Neither hospital stay nor the need for blood transfusion differed from the control patients (P = .2449 and P = .6857). Mild periprocedural complications were encountered in 12.5% of cases, and nerve paresis occurred in 8.3% of cases. Long-term follow-up revealed retreatment was required in 2 of 24 patients (8.3%). Preoperative sclerotherapy of venous malformations was associated with less operative time per lesion volume and less operative blood loss per lesion volume. Long-term follow-up revealed a low need for retreatment. Copyright © 2011 SIR. Published by Elsevier Inc. All rights reserved.

Role of stereotactic radiosurgery with a linear accelerator in treatment of intracranial arteriovenous malformations and tumors in children.

PubMed

Loeffler, J S; Rossitch, E; Siddon, R; Moore, M R; Rockoff, M A; Alexander, E

1990-05-01

Between 1986 and 1988, 16 children were treated for 10 arteriovenous malformations and 6 recurrent intracranial tumors with stereotactic radiation therapy using a modified Clinac 6/100 linear accelerator. The median age of our patients was 10.5 years. For the group with arteriovenous malformation, follow-up ranged from 6 months to 37 months (median was 20 months). No patient bled during the follow-up period. Five of eight patients with follow-up longer than 12 months have achieved complete obliteration of their arteriovenous malformation by angiogram. The four remaining patients who have not achieved a complete obliteration are awaiting their 2-year posttreatment angiogram. The other patient has been treated within the year and have not yet been studied. Five of the six recurrent tumor patients are alive with a median follow-up of 8 months. The remaining patient was controlled locally, but he died of recurrent disease outside the area treated with radiosurgery. The radiographic responses of these patients have included three complete responses, two substantial reductions in tumor volume (greater than 50%) and one stabilization. Despite previous radiotherapy, there have been no significant complications in these patients. We conclude that stereotactic radiation therapy using a standard linear accelerator is an effective and safe technique in the treatment of selected intracranial arteriovenous malformations and tumors in children. In addition, stereotactic radiosurgery may have unique applications in the treatment of localized primary and recurrent pediatric brain tumors.

Facial nerve mapping and monitoring in lymphatic malformation surgery.

PubMed

Chiara, Jospeh; Kinney, Greg; Slimp, Jefferson; Lee, Gi Soo; Oliaei, Sepehr; Perkins, Jonathan A

2009-10-01

Establish the efficacy of preoperative facial nerve mapping and continuous intraoperative EMG monitoring in protecting the facial nerve during resection of cervicofacial lymphatic malformations. Retrospective study in which patients were clinically followed for at least 6 months postoperatively, and long-term outcome was evaluated. Patient demographics, lesion characteristics (i.e., size, stage, location) were recorded. Operative notes revealed surgical techniques, findings, and complications. Preoperative, short-/long-term postoperative facial nerve function was standardized using the House-Brackmann Classification. Mapping was done prior to incision by percutaneously stimulating the facial nerve and its branches and recording the motor responses. Intraoperative monitoring and mapping were accomplished using a four-channel, free-running EMG. Neurophysiologists continuously monitored EMG responses and blindly analyzed intraoperative findings and final EMG interpretations for abnormalities. Seven patients collectively underwent 8 lymphatic malformation surgeries. Median age was 30 months (2-105 months). Lymphatic malformation diagnosis was recorded in 6/8 surgeries. Facial nerve function was House-Brackmann grade I in 8/8 cases preoperatively. Facial nerve was abnormally elongated in 1/8 cases. EMG monitoring recorded abnormal activity in 4/8 cases--two suggesting facial nerve irritation, and two with possible facial nerve damage. Transient or long-term facial nerve paresis occurred in 1/8 cases (House-Brackmann grade II). Preoperative facial nerve mapping combined with continuous intraoperative EMG and mapping is a successful method of identifying the facial nerve course and protecting it from injury during resection of cervicofacial lymphatic malformations involving the facial nerve.

Spontaneous C1 anterior arch fracture as a postoperative complication of foramen magnum decompression for Chiari malformation type 1

PubMed Central

Hirano, Yoshitaka; Sugawara, Atsushi; Mizuno, Junichi; Takeda, Masaaki; Watanabe, Kazuo; Ogasawara, Kuniaki

2011-01-01

Background: C1 fracture accounts for 2% of all spinal column injuries and 10% of cervical spine fractures, and is most frequently caused by motor vehicle accidents and falls. We present a rare case of C1 anterior arch fracture following standard foramen magnum decompression for Chiari malformation type 1. Case Description: A 63-year-old man underwent standard foramen magnum decompression (suboccipital craniectomy and C1 laminectomy) under a diagnosis of Chiari malformation type 1 with syringomyelia in June 2009. The postoperative course was uneventful until the patient noticed progressive posterior cervical pain 5 months after the operation. Computed tomography of the upper cervical spine obtained 7 months after the operation revealed left C1 anterior arch fracture. The patient was referred to our hospital at the end of January 2010 and C1–C2 posterior fusion with C1 lateral mass screws and C2 laminar screws was carried out in March 2010. Complete pain relief was achieved immediately after the second operation, and the patient resumed his daily activities. Conclusion: Anterior atlas fracture following foramen magnum decompression for Chiari malformation type 1 is very rare, but C1 laminectomy carries the risk of anterior arch fracture. Neurosurgeons should recognize that fracture of the atlas, which commonly results from an axial loading force, can occur in the postoperative period in patients with Chiari malformation. PMID:22059133

Specific Biomarkers Associated With Neurological Complications and Congenital Central Nervous System Abnormalities From Zika Virus-Infected Patients in Brazil.

PubMed

Kam, Yiu-Wing; Leite, Juliana Almeida; Lum, Fok-Moon; Tan, Jeslin J L; Lee, Bernett; Judice, Carla C; Teixeira, Daniel Augusto de Toledo; Andreata-Santos, Robert; Vinolo, Marco A; Angerami, Rodrigo; Resende, Mariangela Ribeiro; Freitas, Andre Ricardo Ribas; Amaral, Eliana; Junior, Renato Passini; Costa, Maria Laura; Guida, José Paulo; Arns, Clarice Weis; Ferreira, Luis Carlos S; Rénia, Laurent; Proença-Modena, Jose Luiz; Ng, Lisa F P; Costa, Fabio T M

2017-07-15

Zika virus (ZIKV) infections have been linked to different levels of clinical outcomes, ranging from mild rash and fever to severe neurological complications and congenital malformations. We investigated the clinical and immunological response, focusing on the immune mediators profile in 95 acute ZIKV-infected adult patients from Campinas, Brazil. These patients included 6 pregnant women who later delivered during the course of this study. Clinical observations were recorded during hospitalization. Levels of 45 immune mediators were quantified using multiplex microbead-based immunoassays. Whereas 11.6% of patients had neurological complications, 88.4% displayed mild disease of rash and fever. Several immune mediators were specifically higher in ZIKV-infected patients, and levels of interleukin 10, interferon gamma-induced protein 10 (IP-10), and hepatocyte growth factor differentiated between patients with or without neurological complications. Interestingly, higher levels of interleukin 22, monocyte chemoattractant protein 1, TNF-α, and IP-10 were observed in ZIKV-infected pregnant women carrying fetuses with fetal growth-associated malformations. Notably, infants with congenital central nervous system deformities had significantly higher levels of interleukin 18 and IP-10 but lower levels of hepatocyte growth factor than those without such abnormalities born to ZIKV-infected mothers. This study identified several key markers for the control of ZIKV pathogenesis. This will allow a better understanding of the molecular mechanisms of ZIKV infection in patients. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America.

Specific Biomarkers Associated With Neurological Complications and Congenital Central Nervous System Abnormalities From Zika Virus–Infected Patients in Brazil

PubMed Central

Kam, Yiu-Wing; Leite, Juliana Almeida; Lum, Fok-Moon; Tan, Jeslin J L; Lee, Bernett; Judice, Carla C; Teixeira, Daniel Augusto de Toledo; Andreata-Santos, Robert; Vinolo, Marco A; Angerami, Rodrigo; Resende, Mariangela Ribeiro; Freitas, Andre Ricardo Ribas; Amaral, Eliana; Junior, Renato Passini; Costa, Maria Laura; Guida, José Paulo; Arns, Clarice Weis; Ferreira, Luis Carlos S; Rénia, Laurent; Proença-Modena, Jose Luiz; Costa, Fabio T M

2017-01-01

Abstract Background Zika virus (ZIKV) infections have been linked to different levels of clinical outcomes, ranging from mild rash and fever to severe neurological complications and congenital malformations. Methods We investigated the clinical and immunological response, focusing on the immune mediators profile in 95 acute ZIKV-infected adult patients from Campinas, Brazil. These patients included 6 pregnant women who later delivered during the course of this study. Clinical observations were recorded during hospitalization. Levels of 45 immune mediators were quantified using multiplex microbead-based immunoassays. Results Whereas 11.6% of patients had neurological complications, 88.4% displayed mild disease of rash and fever. Several immune mediators were specifically higher in ZIKV-infected patients, and levels of interleukin 10, interferon gamma-induced protein 10 (IP-10), and hepatocyte growth factor differentiated between patients with or without neurological complications. Interestingly, higher levels of interleukin 22, monocyte chemoattractant protein 1, TNF-α, and IP-10 were observed in ZIKV-infected pregnant women carrying fetuses with fetal growth–associated malformations. Notably, infants with congenital central nervous system deformities had significantly higher levels of interleukin 18 and IP-10 but lower levels of hepatocyte growth factor than those without such abnormalities born to ZIKV-infected mothers. Conclusions This study identified several key markers for the control of ZIKV pathogenesis. This will allow a better understanding of the molecular mechanisms of ZIKV infection in patients. PMID:28838147

Dandy-Walker Malformation: A Clinical and Surgical Outcome Analysis.

PubMed

Bokhari, Iram; Rehman, Lal; Hassan, Sher; Hashim, M Sattar

2015-06-01

To determine the clinical presentations, complications and mortality in patients with Dandy-Walker Malformation (DWM) after surgery i.e., shunt with y-connector. Case series. Neurosurgery Ward, JPMC, Karachi, from January 2009 to December 2013. Cases of DWM, with associated hydrocephalus, further confirmed on CT scan of brain, were admitted through OPD. Those who were previously operated, those with other associated co-morbid or anomalies were excluded from this study. Combined drainage of the ventricular system and posterior fossa cyst, via dual shunt i.e. cystoperitoneal and ventriculoperitoneal shunt with y-connector was performed in all patients. Complications and mortality after surgical intervention in these patients were noted upto one month after surgery. The data analysis for descriptive statistics was done on SPSS version 20. In this study of 70 patients, majority of the patients were female aged between 1 - 2 years. Hydrocephalus was the predominant symptom as being present in all patients, followed by cerebellar signs in 60 (86%), and other in 5 (7.14%) patients. Complications of surgery were infection and shunt fracture dislocation in 7 (10%) each, malpositioning and shunt blockage in 6 (8.5%) each within one month of surgery, intracranial haemorrhage in 5 (7.14%) patients. Only one patient (1.42%) expired after surgical intervention. In DWM, the commonest presentation is that of hydrocephalus. Shunt malfunction and infection are the commonest complication after shunting. Dual shunt with y-connector has the lowest mortality when compared with other methods for treatment of shunt with y-connector.

[Pregnant diabetic patients: institutional experience].

PubMed

Gutiérrez Gutiérrez, Héctor Israel; Carrillo Iñiguez, Mayra Judith; Pestaña Mendoza, Silvia; Santamaría Ferreira, Mauricio

2006-04-01

Diabetes mellitus complicates 3-5% of all pregnancies and is a major cause of perinatal morbidity and mortality. The diet and insulin have revolutionized the care related with pregnancy complicated by diabetes mellitus. To report the management experience in patients with diabetes and pregnancy at the Instituto Materno Infantil, Estado de Mexico. A descriptive, retrospective, observational and cross-sectional study of pregnant women with diabetes and pregnancy was conducted from 2003 to 2004. We included 55 pregnant women who had: gestational diabetes 30 (54.4%), pregestational diabetes 24 (43.6%), and carbohydrate intolerance 1 (1.8%); every one of them were controlled either with diet, insulin or both. The mean age was 30.6, 80% with family history of type 2 diabetes mellitus, 9% gestational diabetes. Gestational diabetes was diagnosed in 33.3% by abnormal 50 g glucose screening and 46.6% with oral glucose tolerance test (OGTT). The main complications among the patients were urinary disease (61.3%) and the major fetal malformation were those related with cardiovascular disease (9.09%). The most frequent mode of delivery was cesarean section (58%) and birth weight was of 3,146 g. The main risk factors identified among women in the study group were as follow: More than 25 years of age and family history of diabetes mellitus. We observed a progressive increase in the insulin dosage. The most consistent complications among the patients were urinary infection and the major fetal malformation was cardiovascular disease.

[Bilateral hypoplasia of the internal carotid arteries associated with aneurysm of the right posterior communicating artery. Apropos of a case].

PubMed

el Khamlichi, A; Amrani, F; el Azzusi, M; el Oufir, M; Khamlichi, A M

1989-01-01

The authors report a case of bilateral hypoplasia of the internal carotid arteries associated with aneurysm of the right posterior communicating artery in a 17 year old female patient. This anomaly was discovered following a meningeal haemorrhage, which recurred 18 months later, causing the patient's death. Surgical operation was refused by the patient and her family. Bilateral hypoplasia of the internal carotid arteries is a rare congenital malformation (16 cases have been reported in the literature, our case constitutes the 17th). It is distinguished from aplasia by the presence of a patent but very reduced vascular lumen, while aplasia is associated with vestiges of non-patent vessels. The mechanism of development of such a malformation is unclear: some authors have suggested secondary regression of the internal carotid artery following a phase of normal development, while others consider it to represent arrest of the development of the internal carotid artery, at a given moment in time. The frequency of associated aneurysm would be due to the haemodynamic disruption induced by the malformation, especially as parietal defects are more frequent in a malformed vasculature. Bilateral hypoplasia of the internal carotid arteries may be compatible with normal life for an indefinite period of time due to the development of a large number of collateral vessels. However, the new vasculature is threatened by rupture with meningeal haemorrhage and by acute ischaemia, which would probably involve another aetiological factor.

Duodenal atresia in an infant with triple-X syndrome: a new associated malformation in 47,XXX.

PubMed

Rolle, Udo; Linse, Barbara; Glasow, Simone; Sandig, Klaus Rainer; Richter, Thomas; Till, Holger

2007-08-01

An association between the triple-X syndrome (47,XXX) and gastrointestinal malformations is extremely rare. Most 47,XXX patients present with a normal phenotype, but genitourinary malformations have been described. We report a case of a child with 47,XXX and duodenal atresia. Antenatal ultrasound scan showed a dilated fetal stomach and upper part of the duodenum (double bubble phenomenon) at 31 weeks of gestation in a 31-year-old woman with polyhydramnion. The amniotic fluid karyotype showed 47,XXX. After a scheduled delivery, duodenal atresia was confirmed and treated with duodeno-duodenostomy. The possible association of gastrointestinal and genitourinary tract anomalies requires a detailed postnatal clinical investigation and ultrasonographic examination of the abdomen, retroperitoneum, and pelvis on all triple-X syndrome patients. 2007 Wiley-Liss, Inc.

Scimitar sign with normal pulmonary venous drainage and anomalous inferior vena cava.

PubMed Central

Herer, B; Jaubert, F; Delaisements, C; Huchon, G; Chretien, J

1988-01-01

A case of the scimitar sign due to an anomaly of the right sided pulmonary vein with normal drainage into the left atrium was associated with an azygos continuation of the inferior vena cava. Digital subtraction angiography allows the identification of these rare congenital vascular malformations. Images PMID:3175980

Neocortical malformation as consequence of nonadaptive regulation of neuronogenetic sequence

NASA Technical Reports Server (NTRS)

Caviness, V. S. Jr; Takahashi, T.; Nowakowski, R. S.

2000-01-01

Variations in the structure of the neocortex induced by single gene mutations may be extreme or subtle. They differ from variations in neocortical structure encountered across and within species in that these "normal" structural variations are adaptive (both structurally and behaviorally), whereas those associated with disorders of development are not. Here we propose that they also differ in principle in that they represent disruptions of molecular mechanisms that are not normally regulatory to variations in the histogenetic sequence. We propose an algorithm for the operation of the neuronogenetic sequence in relation to the overall neocortical histogenetic sequence and highlight the restriction point of the G1 phase of the cell cycle as the master regulatory control point for normal coordinate structural variation across species and importantly within species. From considerations based on the anatomic evidence from neocortical malformation in humans, we illustrate in principle how this overall sequence appears to be disrupted by molecular biological linkages operating principally outside the control mechanisms responsible for the normal structural variation of the neocortex. MRDD Research Reviews 6:22-33, 2000. Copyright 2000 Wiley-Liss, Inc.

Ecomorphology and disease: cryptic effects of parasitism on host habitat use, thermoregulation, and predator avoidance.

PubMed

Goodman, Brett A; Johnson, Pieter T J

2011-03-01

Parasites can cause dramatic changes in the phenotypes of their hosts, sometimes leading to a higher probability of predation and parasite transmission. Because an organism's morphology directly affects its locomotion, even subtle changes in key morphological traits may affect survival and behavior. However, despite the ubiquity of parasites in natural communities, few studies have incorporated parasites into ecomorphological research. Here, we evaluated the effects of parasite-induced changes in host phenotype on the habitat use, thermal biology, and simulated predator-escape ability of Pacific chorus frogs (Pseudacris regilla) in natural environments. Frogs with parasite-induced limb malformations were more likely to use ground microhabitats relative to vertical refugia and selected less-angled perches closer to the ground in comparison with normal frogs. Although both groups had similar levels of infection, malformed frogs used warmer microhabitats, which resulted in higher body temperatures. Likely as a result of their morphological abnormalities, malformed frogs allowed a simulated predator to approach closer before escaping and escaped shorter distances relative to normal frogs. These data indicate that parasite-induced morphological changes can significantly alter host behavior and habitat use, highlighting the importance of incorporating the ubiquitous, albeit cryptic, role of parasites into ecomorphological research.

Prevalence of diverse complications and its association with karyotypes in Japanese adult women with Turner syndrome-a questionnaire survey by the Foundation for Growth Science.

PubMed

Hanew, Kunihiko; Tanaka, Toshiaki; Horikawa, Reiko; Hasegawa, Tomonobu; Yokoya, Susumu

2018-05-28

The reported prevalence of complications in Turner Syndrome (TS) was highly variable because of the rarity and the limited numbers analyzed. Again, possible presence of other complications that are not described as specific for TS, is also speculated. To resolve these issues, a questionnaire survey was conducted in hGH treated 492 patients with adult TS (17-42 years). The possible association with these complications and karyotypes were also analyzed. The complications and their prevalence were as follows: chronic thyroiditis (25.2%), inflammatory bowel disease (1.8%), congenital cardiovascular anomaly (11.8%), urinary tract malformation (11.8%), low bone mineral density (BMD) (42.9%), scoliosis (8.4%), hearing loss (6.2%), epilepsy (2.8%) and schizophrenia (0.9%). The majority of prevalence of these diseases in TS was higher than in the general population. In distribution, the most frequent karyotype was 45,X monosomy (28.9%), followed by 45,X/46,X,Xi (16.9%), 46,X,Xi (9.1%), and 45,X/46,XX (6.3%), while other mosaic 45,X was noted in 29.9%. Regarding the karyotype, cardiovascular anomaly was more frequent in the 45,X group and less in the 46,X,Xi group. Urinary tract malformation and epilepsy were frequently associated with the chromosome 45,X. The prevalence of low BMD was noticed more in the chromosome 46,X,Xi and 45,X/46,X,Xi, and less in other mosaic 45,X. In conclusion, the more exact prevalence of diverse complications was clarified and it exceeded the prevalence of the majority of complications in general population. As novel findings, it was observed that the prevalence of epilepsy was significantly high, and epilepsy and low BMD were frequently associated with the specific karyotypes.

Persistence of pulmonary arteriovenous malformations after successful embolotherapy with Amplatzer vascular plug: long-term results

PubMed Central

Abdel-Aal, Ahmed Kamel; Ibrahim, Rafik Mohamed; Moustafa, Amr Soliman; Hamed, Maysoon Farouk; Saddekni, Souheil

2016-01-01

PURPOSE We aimed to evaluate the frequency of persistence and complication rates of pulmonary arteriovenous malformations (PAVMs) treated with Amplatzer vascular plug (AVP) or Amplatzer vascular plug type 2 (AVP2). METHODS We retrospectively reviewed a total of 22 patients with 54 PAVMs between June 2004 and June 2014. We included 12 patients with 35 PAVMs who received percutaneous embolization using AVP or AVP2 only without the use of any other embolic devices. The mean follow-up was 54±24.3 months (range, 31–97 months). The primary end-points of the study were the efficacy of embolotherapy, the increase in oxygen saturation, and the persistence of PAVM on follow-up. Secondary end point was the incidence of complications. RESULTS The study included 10 female and two male patients with a mean age of 50.2±13.7 years (range, 21–66 years). All PAVMs had a simple angioarchitecture. The technical success of the procedure for PAVM occlusion was 100%. There was a significant increase in the oxygen saturation following embolotherapy (P < 0.0001). Follow-up computed tomography angiography revealed successful treatment in 34 PAVMs (97%) and failed treatment in one PAVM (3%). Twenty-three aneurysmal sacs (67%) showed complete disappearance. The failed treatment was due to persistence of PAVM caused by subsequent development of systemic reperfusion, which did not require further intervention. There were two minor complications but no major complications were encountered. CONCLUSION Embolotherapy of PAVMs using AVP or AVP2 devices is safe and effective, with high technical success rate, low persistence and complication rates, and with excellent long-term results. PMID:27244759

Successful twin pregnancy outcome after in utero exposure to FOLFOX for metastatic colon cancer: a case report and review of the literature.

PubMed

Jeppesen, Johanne Bakker; Østerlind, Kell

2011-12-01

There is limited experience in treating advanced colorectal cancer diagnosed during pregnancy because it is a rare occurrence; however, the incidence of colorectal cancer complicating pregnancy is expected to increase in the future. The combination of cancer and pregnancy is complicated and causes many dilemmas and concerns for the physician and patient. A delay in treatment may compromise maternal survival; however, therapy for the cancer may be harmful to the fetus. We present a case of a 26-year-old woman pregnant with twins who was diagnosed with metastatic colon cancer and treated with 5-fluorouracil, leukovorin, and oxaliplatin (FOLFOX) from 13 weeks gestational age to birth. The patient gave birth to healthy twins without malformations at 33 weeks gestational age. At follow-up examination, the 2-year-old twins are developing normally. The patient herself died 1 year after the initial cancer diagnosis. This shows a case in which the administration of FOLFOX during the second and third trimester of pregnancy caused no fetal harm. These findings are similar to those of previous studies in which systemic chemotherapy administered during the second and third trimester was relatively safe. However, we know that chemotherapy should be avoided during the first trimester. Copyright © 2011 Elsevier Inc. All rights reserved.

[Transverse vaginal septum in the upper part of the vagina and pregnancy].

PubMed

Bautista Gómez, Esperanza; Morales-García, Victor; Flores-Romero, Ana Luisa; Pizarro Osorno, Noel; Velásquez-Valdivia, Abner

2012-07-01

Transverse vaginal septum is a congenital Mullerian malformation resulting from a failure of the fusion or canalization of the urogenital sinus and the Müllerian ducts. It may cause hematocolpos, dyspareunia and infertility in adult patients. In some cases, it is associated with congenital malformations such as coarctation of the aorta or atrial septal defects. A case of a transverse vaginal septum identified during a vaginal check-up of a 39-week pregnant patient during labour is reported. A cesarean surgery was performed with no complications. Septal defect was diagnosed due to heart murmur. It was decided to treat the transverse vaginal septum as soon as the puerperium was over. The patient left the hospital after proper response to treatment.

Mimosa tenuiflora as a cause of malformations in ruminants in the northeastern Brazilian semiarid rangelands.

PubMed

Pimentel, L A; Correa, F Riet; Gardner, D; Panter, K E; Dantas, A F M; Medeiros, R M T; Mota, R A; Araújo, J A S

2007-11-01

Craniofacial anomalies, eye malformations, and permanent flexures of the forelimbs are common malformations seen in ruminants grazing semiarid rangelands of Northeastern Brazil. To investigate the cause of these malformations, we fed 2 suspected plants, Mimosa tenuiflora or Prosopis juliflora, to groups of 4 pregnant goats each. Fresh green M. tenuiflora was collected daily and fed ad libitum to 4 goats in group 1 throughout pregnancy. This treatment group also received a supplemental feed concentrate equivalent to 1% body weight. Four goats in group 2 received a ration with 70% of P. juliflora pods and 30% hay throughout pregnancy. Four control goats were fed supplemental feed concentrate (1% body weight) and hay ad libitum throughout pregnancy. Goats treated with P. juliflora pods and the control goats delivered 9 normal kids. The four goats that were fed M. tenuiflora during pregnancy delivered 4 kids, 3 of which had abnormalities similar to those observed in field cases, including cleft lip, unilateral corneal opacity, ocular bilateral dermoids, buphthalmos with a cloudy brownish appearance of the anterior chamber due to an iridal cyst, and segmental stenosis of the colon. Malformations induced experimentally by M. tenuiflora were similar to those observed in field cases, suggesting that M. tenuiflora is a cause of the field cases observed in the Brazilian semiarid rangelands.

A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations.

PubMed

Garrido-Allepuz, Carlos; Haro, Endika; González-Lamuño, Domingo; Martínez-Frías, María Luisa; Bertocchini, Federica; Ros, Maria A

2011-05-01

Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA), and in mice that develop with reduced bone morphogenetic protein (Bmp) signaling in the caudal embryonic region. The phenotypes of these mutant mice suggest that sirenomelia in humans is associated with an excess of RA signaling and a deficit in Bmp signaling in the caudal body. Clinical studies of sirenomelia have given rise to two main pathogenic hypotheses. The first hypothesis, based on the aberrant abdominal and umbilical vascular pattern of affected individuals, postulates a primary vascular defect that leaves the caudal part of the embryo hypoperfused. The second hypothesis, based on the overall malformation of the caudal body, postulates a primary defect in the generation of the mesoderm. This review gathers experimental and clinical information on sirenomelia together with the necessary background to understand how deviations from normal development of the caudal part of the embryo might lead to this multisystemic malformation.

[Papillary oedema revealing Arnold Chiari malformation type 1: about a case].

PubMed

Imane, Mouhoub; Asmae, Maadane; Toufik, Ramdani; Rachid, Sekhsoukh

2016-01-01

Arnold Chiari malformation type 1 is defined as a herniation of the cerebellar tonsils into the foramen magnum of more than 5 mm. Symptoms are most commonly dominated by occipital headache, torticollis and sometimes swallowing disorders. Ophthalmologically abnormal convergences, oculomotor palsy and diplopia are the main clinical signs. We report the case of a 9 year old child, who presented with visual loss evolving since 6 months. Ophthalmologic examination showed visual acuity of 4/10 in both eyes, retained ocular motility and rotational nystagmus. The examination of the anterior segment of the eye showed megalocornea with no evidence of goniodysgenesis, iridodonesis associated with atrophy of the dilator muscle and microcoria with lazy photomotor reflex. Normal intraocular pressure was 14 mmHg. Ocular fundus examination, despite difficulties in performing it, objectified bilateral papilledema (stage II). General physical examination showed torticollis, scoliosis and a tetra-pyramidal syndrome. MRI showed Chiari malformation type I associated with hydrocephalus and syringomyelia. Neurosurgical intervention based on internal CSF drainage with occipitocervical osteo-dural decompression was proposed. The evolution was favorable with regression of clinical signs. Ophthalmologically, there was a regression of papilledema but visual acuity remained stationary. The occurrence of papilledema associated with Chiari malformation type 1 is rare, it has been only reported in 2% of symptomatic patients. Its pathophysiology is still poorly understood. The originality of our study consists in the association of cerebellar malformations with ocular malformations including megalocornea and microcoria which make ophthalmologic examination more difficult to perform.

T-bone plastique for treatment of brachy-turricephaly.

PubMed

Donauer, E; Bernardy, M; Neuenfeldt, D

1993-01-01

The "T-Bone Plastique", which is presented in this paper, allows a surgical correction even of extreme cases of brachy-turricephaly together with malformations of the occipital region in one operative session. Brachy-turricephaly is characterized by abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region. Resection of the prematurely closed coronal suture, bi-parietal trepanations with 90 degrees rotation and side-exchange of the parietal bone flaps, double transverse trepanation of the occipital bone and outward bending and shifting of the bone fragments enable a bony remodeling and normalization of the deformed skull. Using this operative technique in three children we achieved a significant improvement of the skull form with an aesthetically pleasing result, without any neurologic sequelae and with normal development of the children during follow-up.

Origins and consequences of congenital heart defects affecting the right ventricle.

PubMed

Woudstra, Odilia I; Ahuja, Suchit; Bokma, Jouke P; Bouma, Berto J; Mulder, Barbara J M; Christoffels, Vincent M

2017-10-01

Congenital heart disease is a major health issue, accounting for a third of all congenital defects. Improved early surgical management has led to a growing population of adults with congenital heart disease, including patients with defects affecting the right ventricle, which are often classified as severe. Defects affecting the right ventricle often cause right ventricular volume or pressure overload and affected patients are at high risk for complications such as heart failure and sudden death. Recent insights into the developmental mechanisms and distinct developmental origins of the left ventricle, right ventricle, and the outflow tract have shed light on the common features and distinct problems arising in specific defects. Here, we provide a comprehensive overview of the current knowledge on the development into the normal and congenitally malformed right heart and the clinical consequences of several congenital heart defects affecting the right ventricle. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions, please email: journals.permissions@oup.com.

Evidence-Based Medicine: Cleft Palate.

PubMed

Woo, Albert S

2017-01-01

After studying this article, the participant should be able to: 1. Describe the incidence of cleft palate and risk factors associated with development of an orofacial cleft. 2. Understand differences among several techniques to repair clefts of both the hard and soft palates. 3. Discuss risk factors for development of postoperative fistulas, velopharyngeal insufficiency, and facial growth problems. 4. Establish a treatment plan for individualized care of a cleft palate patient. Orofacial clefts are the most common congenital malformations of the head and neck region, and approximately three-quarters of these patients have some form of cleft palate deformity. Cleft palate repair is generally performed in children between 6 and 12 months of age. The goals of palate repair are to minimize the occurrence of fistulas, establish a normal velopharyngeal mechanism, and optimize facial growth. This Maintenance of Certification review discusses the incidence and epidemiology associated with cleft palate deformity and specifics associated with patient care, including analgesia, surgical repair techniques, and complications associated with repair of the cleft palate.

Remarks about the prognosis in case of antenatal diagnosis of gastroschisis.

PubMed

Poulain, P; Milon, J; Frémont, B; Proudhon, J F; Odent, S; Babut, J M; Le Marec, B; Grall, J Y; Giraud, J R

1994-05-18

We report our experience of 15 cases of gastroschisis which occurred between 1981 and 1993. All but one were diagnosed antenatally by ultrasound between 16 and 32 weeks of pregnancy. We made a termination of the pregnancy in 3 cases, for multiple malformations in 2 cases and one case of very early premature rupture of the membranes (PROM). When checked (11 cases), the karyotype was normal. We made a cesarean section in 11 cases: the indication was a complication for 6 (fetal distress, PROM, polyhydramnios, large dilatation of the gut). We noted growth retardation in 7 newborns and prematurity in 5/12 (mean gestational age of 36.8 weeks). The preoperative study of the gut noted 5 cases with intestinal damage and one case of complete necrosis of the gut. The global prognosis is not as good as usual, with a perinatal mortality of 41.6% (5/12). We discuss this latter point and examine the literature.

The TRAP (twin reversed arterial perfusion) sequence - case presentation.

PubMed

Mărginean, Claudiu; Mărginean, Maria Oana; Mureşan, Daniel; Zahiu, LuminiŢa; Horváth, Emőke

2016-01-01

We present a particular case of TRAP (twin reversed arterial perfusion) syndrome, which has a very rarely association of the simultaneous existence of a rudimentary malformed heart and brain, and also other malformations like abdominal wall abnormality, absent bladder with present kidneys, and absence of the lungs, which appear only in a few cases on the receptor twin from this sequence, malformations incompatible with life. A Caucasian 26-year-old pregnant woman, at the first pregnancy, with a monochorionic-diamniotic pregnancy, 26 weeks of gestation was referred to our hospital, for polyhydramnios. The patient delivered a living female newborn, weighing 950 g, with an Apgar score of 2 at one minute - the donor fetus and a second female newborn with multiple malformations, no signs of life and who weighed 2300 g - the receptor fetus. The anatomopathological examination confirmed the TRAP sequence associated with severe facial dysmorphism, bilateral phocomelia and cardiac malformations (rudimentary hypoplastic, univentricular) and a vascular anastomosis between the two umbilical cords. Anemia and cardiac complications which can lead to cardiac failure, appear early during pregnancy and caused the death of the pumping twin. We emphasize that in our case of TRAP sequence, the ultrasound examination established the diagnosis of the syndrome with high accuracy. Therefore, we can conclude that the existence of a rudimentary heart and a vascular anastomosis between the two umbilical cords supports the apparition of TRAP sequence. The early diagnosis of this pathology, the observation of the pregnancy with the help of weekly ultrasounds and the intrauterine interventions can increase the survival chances of the donor fetus from the TRAP sequence.

Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome.

PubMed

Sharan, Sapna; Swamy, Brighu; Taranath, Deepa Ajay; Jamieson, Robyn; Yu, Tao; Wargon, Orli; Grigg, John R

2009-08-01

Treatment of the capillary vascular malformation (port-wine stain) in Sturge-Weber syndrome with the use of a laser is helpful cosmetically. However, concerns have been raised that laser obliteration of port-wine stains may result in ocular hypertension. The aim of this study was to review clinical features and management of ocular complications of SWS and assess the effects of dermatological laser treatment on the incidence of glaucoma or ocular hypertension. This retrospective cohort study was conducted in an institutional setting. All patients had involvement of the face. Patients who underwent skin laser to the port-wine vascular malformation were analyzed further. Ocular involvement, glaucoma, and skin laser treatment and the relationship to ocular hypertension/glaucoma were observed. Forty-one Sturge-Weber syndrome patients with port-wine vascular malformation were analyzed. Glaucoma was observed in 24 patients (58.5%) at mean age of 2.9 years (range, 0.0-16.5). Of these, 18 (75.0%) were treated with medical therapy, and 10 (41.7%) required trabeculectomy, with 2 of these requiring Seton implant. Of the 41 patients, 28 (68.3%) underwent laser to face/forehead. Mean age of laser commencement was 5 years (range, 0.4-16.5). Thirteen did not undergo laser treatment. Fourteen of the 28 and 10 of the 13 developed ocular hypertension/glaucoma. This retrospective review did not find evidence to suggest that laser treatment of port-wine vascular malformations causes glaucoma or that it can worsen a preexisting ocular hypertension or glaucoma. Statistical analysis was inconclusive.

Technique for Mini-open Decompression of Chiari Type I Malformation in Adults.

PubMed

Pakzaban, Peyman

2017-08-01

The technique for decompression of Chiari type I malformation relies on open exposure of craniocervical junction for suboccipital craniectomy and upper cervical laminectomy with or without duraplasty. There is no detailed technical report of a minimally invasive approach for Chiari decompression in adults. To describe a mini-open technique for decompression of Chiari type I malformation (including duraplasty) in adults. Six consecutive adult patients with symptomatic Chiari type I malformation underwent decompression through a 3 to 4 cm midline incision via a speculum retractor. All patients underwent a limited suboccipital craniectomy and C1 laminectomy with an ultrasonic bone scalpel. All patients underwent duraplasty with a synthetic dural substitute. In the 2 patients with syringomyelia, the arachnoid was opened and intradural dissection was carried out. In the remaining 4 patients, the arachnoid was left intact. All operations were completed successfully through the mini-open exposure. Mean surgery time, blood loss, and length of stay were 114 min, 55 mL, and 1.3 days, respectively. Mean follow-up was 13.2 months (range 9-18). All patients had excellent clinical outcomes as defined by scores of 15 (3 patients) or 16 (3 patients) on Chicago Chiari Outcome Scale. There were no neurological complications or cerebrospinal fluid leaks. Postop computed tomography revealed good boney decompression. In the 2 patients with syringomyelia, MRI at 6 months revealed resolution of the syrinx. Decompression of Chiari type I malformation in adults can be performed safely and effectively through the mini-open exposure described in this report. Copyright © 2017 by the Congress of Neurological Surgeons

Gamma Knife Radiosurgery for Pediatric Arteriovenous Malformations: A Canadian Experience.

PubMed

Zeiler, Fred A; Janik, Maciej K; McDonald, Patrick J; Kaufmann, Anthony M; Fewer, Derek; Butler, Jim; Schroeder, Garry; West, Michael

2016-01-01

Gamma Knife (GK) radiosurgery for pediatric arteriovenous malformations (AVM) of the brain presents a non-invasive treatment option. We report our institutional experience with GK for pediatric AVMs. We performed a retrospective review of all pediatric patients treated with GK for cerebral AVMs at our institution from November 2003 up to and including September 2014. Patient demographics, AVM characteristics, treatment parameters and AVM responses were recorded. Nineteen patients were treated, with 4 lost to follow-up. The mean age was 14.2 years (range. 7-18 years), with 10 being males (52.6%). The mean AVM diameter and volume were 2.68 cm and 3.10 cm3 respectively. The mean Spetzler-Martin (SM) and Pollock grades of the treated AVMs were 2.4 and 0.99 respectively. The mean follow-up was 62 months. All AVMs treated demonstrated a response on follow-up imaging. Nine of 15 (60.0%) patients displayed obliteration of their AVMs. Nine of 11 patients with a minimum of 3 years follow-up (81.8%) displayed obliteration, with SM and Pollock grades correlating to the chance of obliteration in this group. Two patients developed post-GK edema requiring short course dexamethasone therapy. No other major complications occurred. No permanent complications occurred. GK radiosurgery for pediatric AVMs offers a safe and effective treatment option, with low permanent complication rates during early follow-up.

Focal Nodulary Hyperplasia of the Liver Due to Congenital Portosystemic Shunt: A Rare Condition Mimicking Hepatocellulary Carcinoma.

PubMed

Yazal Erdem, Arzu; Emir, Suna; Demir, Haci A; Özyörük, Derya; Çetin, İlker; Turan, Aynur; Karakuş, Esra

2017-01-01

Congenital portosystemic shunts are rare vascular malformations that lead to several complications including liver tumors, pulmonary hypertension, and metabolic encephalopathy. We describe a rare case of a 17-year-old girl with an extrahepatic portosystemic shunt presenting recurrent syncope episodes and a liver mass mimicking hepatocellulary carcinoma.

Curative embolization of pediatric intracranial arteriovenous malformations using Onyx: the role of new embolization techniques on patient outcomes.

PubMed

de Castro-Afonso, L H; Nakiri, G S; Oliveira, R S; Santos, M V; Santos, A C Dos; Machado, H R; Abud, D G

2016-06-01

Intracranial arteriovenous malformations (AVMs) are the most frequent cause of hemorrhagic strokes in the pediatric population. The study aim was to retrospectively assess the safety and efficacy of Onyx embolization with the intention to cure AVMs in a pediatric population. A retrospective analysis of all patients (<18 years) who underwent endovascular embolization using Onyx at our institution was conducted. The primary endpoint was the composite complete angiographic occlusion of AVM immediately after the last embolization session that had no procedure-related complication requiring emergency surgery. Secondary endpoints were angiographic occlusion rates, procedure-related complications, and clinical outcomes after treatment and at the 6-month follow-up Twenty-three patients (mean age, 11.7 years) underwent a total of 45 embolization sessions. The median Spetzler-Martin grade was 3 (range 1 to 4). The primary endpoint was achieved in 19 patients (82.6 %). Complete angiographic occlusion of the AVM was obtained in 21 patients (91.3 %) immediately after embolization and at the 6-month follow-up. Embolization-related complications were observed in three patients (13 %). None of the complications resulted in permanent functional disability or death. In two patients (8.7 %), the AVM could not be completely occluded by embolization alone and the patients were referred to radiosurgery and microsurgery, respectively. Onyx embolization of AVM in pediatric patients with the intention to cure resulted in high occlusion rates without increasing neurological disability or death. The development of new embolization techniques and devices seems to improve the safety of Onyx embolization.

Gamma Knife radiosurgery for cerebral arteriovenous malformations in children/adolescents and adults. Part I: Differences in epidemiologic, morphologic, and clinical characteristics, permanent complications, and bleeding in the latency period

DOE Office of Scientific and Technical Information (OSTI.GOV)

Nicolato, Antonio; Lupidi, Francesco; Section of Stereotactic and Functional Neurosurgery, University of Verona and University Hospital, Verona

Purpose: To compare the epidemiologic, morphologic, and clinical characteristics of 92 children/adolescents (Group A) and 362 adults (Group B) with cerebral arteriovenous malformations (cAVMs) considered suitable for radiosurgery; to correlate radiosurgery-related permanent complication and post-radiosurgery bleeding rates in the 75 children/adolescents and 297 adults available for follow-up. Methods and Materials: Radiosurgery was performed with a model C 201-source Co{sup 6} Leksell Gamma Unit (Elekta Instruments, Stockholm, Sweden). Fisher exact two-tailed, Wilcoxon rank-sum, and two-sample binomial exact tests were used for statistical analysis. Results: There were significant differences between the two populations in sex (p = 0.015), clinical presentation (p =more » 0.001), and location (p = 0.008). The permanent complication rate was lower in younger (1.3%) than in older patients (5.4%), although the difference was not significant (p = 0.213). The postradiosurgery bleeding rate was lower in Group A (1.3%) than in Group B (2.7%) (p = 0.694), with global actuarial bleeding rates of 0.56% per year and 1.15% per year, respectively. Conclusions: The different characteristics of child/adolescent and adult cAVMs suggest that they should be considered two distinct vascular disorders. The similar rates of radiosurgery-related complications and latency period bleeding in the two populations show that gamma knife radiosurgery does not expose young patients to a higher risk of sequelae than that for older patients.« less

Primary Definitive Procedure versus Conventional Three-staged Procedure for the Management of Low-type Anorectal Malformation in Females: A Randomized Controlled Trial.

PubMed

Gupta, Alisha; Agarwala, Sandeep; Sreenivas, Vishnubhatla; Srinivas, Madhur; Bhatnagar, Veereshwar

2017-01-01

Females with Krickenbeck low-type anorectal malformations - vestibular fistula (VF) and perineal fistula (PF) - are managed either by a primary definitive or conventional three-staged approach. Ultimate outcome in these children may be affected by wound dehiscence leading to healing by fibrosis. Most of the literature favors one approach over other based on retrospective analysis of their outcomes. Whether a statistically significant difference in wound dehiscence rates between these approaches exists needed to be seen. A randomized controlled trial for girls <14 years with VF or PF was done. Random tables were used to randomize 33 children to Group I (primary procedure) and 31 to Group II (three-staged procedure). Statistical analysis was done for significance of difference ( P < 0.05) in the primary outcome (wound dehiscence) and secondary outcomes (immediate and early postoperative complications). Of the 64 children randomized, 54 (84%) had VF. Both groups were comparable in demography, clinical profile and age at surgery. The incidence of wound dehiscence (39.4% vs. 18.2%; P = 0.04), immediate postoperative complications (51.5% vs. 12.9%; P = 0.001), and early postoperative complications (42.4% vs. 12.9%; P = 0.01) was significantly higher in Group I as compared to Group II. Six of 13 children (46.2%) with dehiscence in Group I required a diverting colostomy to be made. Females with VF or PF undergoing primary definitive procedure have a significantly higher incidence of wound dehiscence ( P = 0.04), immediate ( P = 0.001) and early postoperative complications ( P = 0.01).

Complications of pediatric auditory brain stem implantation via retrosigmoid approach.

PubMed

Bayazit, Yildirim A; Abaday, Ayça; Dogulu, Fikret; Göksu, Nebil

2011-01-01

We aimed to present the complications of auditory brain stem implantations (ABI) in pediatric patients which were performed via retrosigmoid approach. Between March 2007 and February 2010, five prelingually deaf children underwent ABI (Medel device) operation via retrosigmoid approach. All children had severe cochlear malformations. The ages ranged from 20 months to 5 years. The perioperative complications encountered in 2 patients were evaluated retrospectively. No intraoperative complication was observed in the patients. Cerebrospinal fluid (CSF) leakage was the most common postoperative complication that was seen in 2 patients. The CSF leak triggered a cascade of comorbidities, and elongated the hospitalization. Pediatric ABI surgery can lead to morbidity. The CSF leak is the most common complication encountered in retrosigmoid approach. The other complications usually result from long-term hospital stay during treatment period of the CSF leak. Therefore, every attempt must be made to prevent occurrence of CSF leaks in pediatric ABI operations. Copyright © 2011 S. Karger AG, Basel.

Intraoperative monitoring of brain tissue oxygenation during arteriovenous malformation resection.

PubMed

Arikan, Fuat; Vilalta, Jordi; Noguer, Montserrat; Olive, Montserrat; Vidal-Jorge, Marian; Sahuquillo, Juan

2014-10-01

In normal perfusion pressure breakthrough (NPPB) it is assumed that following arteriovenous malformation (AVM) resection, vasoparalysis persists in the margins of the lesion and that a sudden increase in cerebral blood flow (CBF) after AVM exclusion leads to brain swelling and postsurgical complications. However, the pathophysiology NPPB remains controversial.The aim of our study was to investigate the oxygenation status in tissue surrounding AVMs and in the distant brain using intraoperative monitoring of cerebral partial pressure of oxygen (PtiO(2)) to achieve a better understanding of NPPB pathophysiology. Patients with supratentorial AVMs were monitored intraoperatively using 2 polarographic Clark-type electrodes. To establish reference values, we also studied PtiO(2) in a group of patients who underwent surgery to treat incidental aneurysms. Twenty-two patients with supratentorial AVMs and 16 patients with incidentally found aneurysms were included. Hypoxic pattern was defined as PtiO(2)≤15 mm Hg and/or PtiO(2)/PaO(2) ratio ≤0.10. Tissue hypoxia was detected in 63.6% of the catheters placed in the perinidal area and in 43.8% of catheters placed in a distant area. AVM excision significantly improved oxygenation both around the AVM and in the distant area. The PtiO(2)/PaO(2) ratio is a better indicator than absolute PtiO(2) in detecting tissue hypoxia in mechanically ventilated patients. Intraoperative monitoring showed tissue hypoxia in the margins of AVMs and in the distant ipsilateral brain as the most common finding. Surgical removal of AVMs induces a significant improvement in the oxygenation status in both areas.

Flutamide-induced hypospadias in rats: A critical assessment.

PubMed

Sinclair, Adriane Watkins; Cao, Mei; Pask, Andrew; Baskin, Laurence; Cunha, Gerald R

This paper provides the first detailed description of flutamide-induced hypospadias in the rat based upon wholemount, histologic, three-dimensional reconstruction, scanning electron microscopic, and immunocytochemical analysis. The penile malformations elicited by this potent anti-androgen include a substantial proximal shift in the urethral meatus that clearly conforms to the definition of hypospadias based upon specific morphological criteria for this malformation. Through examination of the normal penile development and flutamide-induced abnormal penile development observed in prenatally oil- and flutamide-treated rats, our analysis provides insights into the morphogenetic mechanism of development of hypospadias. In this regard, a common theme in normal penile development is midline fusion of epithelia followed by removal of the epithelial seam and establishment of midline mesenchymal confluence during development of the penile urethra and prepuce, processes which are impaired as a result of prenatal flutamide treatment. The developmental processes occurring in normal penile development, through comparison with development of female external genitalia and those impaired due to prenatal flutamide treatment, are consistent with critical role of androgen receptors in normal penile development in the rat, and the specific penile abnormalities embodied in flutamide-induced rat hypospadias. Copyright © 2016 International Society of Differentiation. Published by Elsevier B.V. All rights reserved.

Adult onset of the Dandy-Walker syndrome.

PubMed

Lipton, H L; Preziosi, T J; Moses, H

1978-10-01

Two patients with the Dandy-Walker malformation first developed neurologic symptoms in adult life. In both patients there was normal motor and intellectual development during childhood, but as adults they had gradual evolution of brain stem and cerebellar signs and obstructive hydrocephalus. Following resection of the fourth ventricular cyst, both patients recovered. A review of the literature disclosed seven additional patients in whom the Dandy-Walker syndrome was first diagnosed in adult life. These cases illustrate that this congenital brain malformation may not only first become symptomatic later in life, but that it is possible for patients to remain asymptomatic.

Facial nerve conduction after sclerotherapy in children with facial lymphatic malformations: report of two cases.

PubMed

Lin, Pei-Jung; Guo, Yuh-Cherng; Lin, Jan-You; Chang, Yu-Tang

2007-04-01

Surgical excision is thought to be the standard treatment of choice for lymphatic malformations. However, when the lesions are limited to the face only, surgical scar and facial nerve injury may impair cosmetics and facial expression. Sclerotherapy, an injection of a sclerosing agent directly through the skin into a lesion, is an alternative method. By evaluating facial nerve conduction, we observed the long-term effect of facial lymphatic malformations after intralesional injection of OK-432 and correlated the findings with anatomic outcomes. One 12-year-old boy with a lesion over the right-side preauricular area adjacent to the main trunk of facial nerve and the other 5-year-old boy with a lesion in the left-sided cheek involving the buccinator muscle were enrolled. The follow-up data of more than one year, including clinical appearance, computed tomography (CT) scan and facial nerve evaluation were collected. The facial nerve conduction study was normal in both cases. Blink reflex in both children revealed normal results as well. Complete resolution was noted on outward appearance and CT scan. The neurophysiologic data were compatible with good anatomic and functional outcomes. Our report suggests that the inflammatory reaction of OK-432 did not interfere with adjacent facial nerve conduction.

Dandy Walker Variant and Bipolar I Disorder with Graphomania

PubMed Central

Karakaş Uğurlu, Görkem; Çakmak, Selcen

2014-01-01

Cerebellum is known to play an important role in coordination and motor functions. In some resent studies it is also considered to be involved in modulation of mood, cognition and psychiatric disorders. Dandy Walker Malformation is a congenital malformation that is characterized by hypoplasia or aplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of the posterior fossa. When the volume of posterior fossa is normal, the malformation is called Dandy Walker Variant. Case is a 32 year old male with a 12 year history of Bipolar I Disorder presented with manic and depresive symptoms, including dysphoric and depressive affect, anhedonia, suicidal thoughts and behaviours, thoughts of fear about future, overtalkativeness and graphomania, increased energy, irregular sleep, loss of appetite, increased immersion in projects, irritability, agressive behavior, impulsivity. Cranial Magnetic Resonance Imaging was compatible to the morphological features of Dandy Walker Variant. PMID:25110509

Calcified telangiectatic hyperplastic nodule associated with vascular malformation in a child: a case report.

PubMed

Marti, Josep; Trivedi, Anshu; D'Alessandro, Valentina; Roayaie, Sasan; Rosen, Ally; Arnon, Ronen; Thung, Swan

2015-04-01

This is a case report of an asymptomatic 4-year-old girl who was found to have a nodule at the lateral left lobe of the liver. She underwent transabdominal liver ultrasound and abdominal MRI that showed calcification and intense arterial enhancement but they failed to clearly exclude malignancy. The patient underwent an unremarkable laparoscopic wedge liver resection of the lesion because of its location and size. Pathological examination showed features compatible with a benign telangiectatic hyperplastic nodule with vascular malformation and calcification. CD34 immunostained the proliferative vascular lining cells while CK7 and CK19 highlighted the normal bile ducts present within the lesion. The diagnosis of a telangiectatic hyperplastic nodule associated with vascular malformation has been scarcely reported in children and our case shows for the first time that it can also present with calcifications.

Congenital portosystemic vascular malformations.

PubMed

Guérin, Florent; Blanc, Thomas; Gauthier, Frédéric; Abella, Stephanie Franchi; Branchereau, Sophie

2012-08-01

Congenital portosystemic shunts are developmental abnormalities of the portal venous system resulting in the diversion of portal blood away from the liver to the systemic venous system. Such malformations are believed to come from an insult occurring between the fourth and eighth week of gestation during the development of hepatic and systemic venous systems, and could explain their frequent association with cardiac and other vascular anomalies. They are currently categorized into end-to-side shunts (type I) or side-to-side shunts (type II). This article aims to review the common symptoms and complications encountered in congenital portosystemic shunts, the surgical and endovascular treatment, and the role of liver transplantation in this disease. We will also focus on the current controversies and the areas where there is potential for future studies. Copyright © 2012. Published by Elsevier Inc.

Ascending transaqueductal cystoventriculoperitoneal shunting in Dandy-Walker malformation: technical note.

PubMed

Unal, Omer Faruk; Aras, Yavuz; Aydoseli, Aydin; Akcakaya, Mehmet Osman

2012-01-01

The optimal treatment for Dandy-Walker malformation is still controversial. Ventriculoperitoneal shunting, cystoperitoneal shunting or combinations are the most common surgical options in the management of this clinical entity. Endoscopic procedures like ventriculocystostomy, 3rd ventriculostomy or endoscopy-assisted shunt surgeries have become the focus of recent publications. We describe a new transcystic endoscopic technique, with the usage of a single ascending transaqueductal shunt catheter with additional holes, whereby both the posterior fossa cyst and supratentorial ventricular compartments are drained effectively. By using this new technique complications associated with combined shunting can be avoided. In addition, by equalizing the pressure within the supra- and infratentorial compartments, the upward or downward herniations associated with single-catheter shunting can be prevented. Copyright © 2013 S. Karger AG, Basel.

Cephalometric oropharynx and oral cavity analysis in Chiari malformation Type I: a retrospective case-control study.

PubMed

Urbizu, Aintzane; Ferré, Alex; Poca, Maria-Antonia; Rovira, Alex; Sahuquillo, Juan; Martin, Bryn A; Macaya, Alfons

2017-02-01

OBJECTIVE Traditionally, Chiari malformation Type I has been related to downward herniation of the cerebellar tonsils as a consequence of an underdeveloped posterior cranial fossa. Although the common symptoms of Chiari malformation Type I are occipital headaches, cervical pain, dizziness, paresthesia, and sensory loss, patients often report symptoms related to pharyngeal dysfunction such as choking, regurgitation, dysphagia, aspiration, chronic cough, and sleep disorders. In addition, tracheal intubation is often difficult in these patients. The purpose of this study was to analyze the morphological features of the oropharynx and oral cavity in patients with Chiari malformation Type I to help identify underlying anatomical anomalies leading to these debilitating symptoms. METHODS Seventy-six adult patients with symptomatic Chiari malformation Type I with cerebellar tonsillar descent greater than 5 mm below the foramen magnum and a small posterior cranial fossa and 49 sex-matched controls were selected to perform a retrospective case-control MRI-based morphometric study in a tertiary hospital. Eleven linear and areal parameters of the oropharyngeal cavity on midsagittal T1-weighted MRI were measured and the average values between patients and control cohorts were compared. Correlations between variables showing or approaching statistical significance in these structures and posterior cranial fossa measurements related with the occipital bone were sought. RESULTS Significant differences were detected for several oropharynx and oral cavity measures in the patient cohort, primarily involving the length and thickness of the soft palate (p = 9.5E-05 and p = 3.0E-03, respectively). A statistically significant (p < 0.01) moderate correlation between some of these variables and posterior cranial fossa parameters was observed. CONCLUSIONS The existence of structural oropharyngeal and oral cavity anomalies in patients with Chiari malformation Type I was confirmed, which may contribute to the frequent occurrence of respiratory and deglutitory complications and sleep disorders in this syndrome.

Holoprosencephaly: from Homer to Hedgehog.

PubMed

Ming, J E; Muenke, M

1998-03-01

Holoprosencephaly (HPE), a common developmental defect affecting the forebrain and face, is etiologically heterogeneous and exhibits wide phenotypic variation. Graded degrees of severity of the brain malformation are also reflected in the highly variable craniofacial malformations associated with HPE. In addition, individuals with microforms of HPE, who usually have normal cognition and normal brain imaging, are at risk for having children with HPE. Some obligate carriers for HPE may not have any phenotypic abnormalities. Recurrent chromosomal rearrangements in individuals with HPE suggest loci containing genes important for brain development, and abnormalities in these genes may result in HPE. Recently, Sonic Hedgehog (SHH) was the first gene identified as causing HPE in humans. Proper function of SHH depends on cholesterol modification. Other candidate genes that may be involved in HPE include components of the SHH pathway, elements involved in cholesterol metabolism, and genes expressed in the developing forebrain.

The Effect of Otolith Malformation on Behavior and Cortisol Levels in Juvenile Red Drum Fish (Sciaenops ocellatus)

PubMed Central

Browning, Zoe S; Wilkes, Allison A; Moore, Erica J; Lancon, Trevor W; Clubb, Fred J

2012-01-01

Captive-raised red drum fish were observed with phenotypic abnormalities, including deformities of the spine, jaw, and cephalic region, that were consistent with vitamin C deficiency during the larval stage. In light of their visible exterior skeletal abnormalities, we suspected that the affected fish would also have abnormal otoliths. Otoliths are dense calcareous structures that function in fish hearing. We hypothesized that abnormal fish would have irregular otoliths that would alter behavior and cortisol levels as compared with those of phenotypically normal fish. The normal and abnormal fish had statistically significant differences in behavior, cortisol levels, and otolith volume and density. MicroCT assessment of abnormal fish revealed operculum abnormalities, malocclusions, and several types of otolith malformations. Therefore, the affected fish had not only an abnormal skeletal appearance but also significantly abnormal behavior and cortisol responses. PMID:23043776

[The risks involved in the heart catheter examination. A retrospective evaluation of the complications after 700 examinations. I. Method, patients, diagnoses (author's transl)].

PubMed

Hammerer, I

1979-01-01

A retrospective study is undertaken in order to assess the kind and frequency of complications which occurred in 700 heart catheterizations performed in 539 infants and children. This paper deals with the distribution of age groups and diagnoses. The percentages of the different age groups resemble closely those of the "Cooperative Study" of Braunwald and ass. (1968) with the exception that newborns and infants are represented in greater number. This id due to a more active approach to investigation of cardiac malformations in infancy. With regard to the diagnoses those malformations are highly represented which are susceptible to low-risk surgery (Ductus Botalli, atrial septal defect, coarctation, pulmonic and aortic stenosis) and those where surgery is inevitable (tetralogy, transposition of great arteries). Aortic stenosis, too, shows a higher than real incidence because the exact degree of severity can be ascertained only by use of invasive methods. On the other hand there are relatively few ventricular septal defects, because many of them diminish spontaneously in size and do not need catheterization. The rare anomalies are represented in small numbers.

Use of the 5-mm Endoscopic Stapler for Ligation of Fistula in Laparoscopic-Assisted Repair of Anorectal Malformation.

PubMed

Slater, Bethany J; Kay, Saundra; Rothenberg, Steven S

2018-02-15

Laparoscopic anorectoplasty (LARRP) for the treatment of select anorectal malformations has gained popularity due to enhanced visualization of the fistula and the ability to place the rectum within the sphincter complex while minimizing division of muscles and the perineal incision. However, given the technical challenges and reported complications of ligation, a number of techniques have been described, including using clips, suture ligation, endoloops, or division without closure. We aimed to evaluate fistula closure and division for high imperforate anus using a 5-mm stapler (JustRight Surgical, Boulder, CO). A retrospective chart review was performed on patients who underwent LAARP for imperforate anus between March 2015 and December 2016. Four patients underwent LAARP with division of the fistula using the 5-mm stapler. The average age was 3.2 months and average weight was 4.5 kg. The location of the fistula was rectoprostatic in 3 cases and rectobladder neck in 1 case. There were no complications. Division of a fistula at or above the level of the prostate can safely and effectively be performed with the 5-mm stapler. The stapler allows for division flush with the urethra or bladder ergonomically and quickly.

NOTE: Haemodynamic resistance model of monochorionic twin pregnancies complicated by acardiac twinning

NASA Astrophysics Data System (ADS)

Umur, Asli; van Gemert, Martin J. C.; van den Wijngaard, Jeroen P. H. M.; Ross, Michael G.; Nikkels, Peter G. J.

2004-07-01

An acardiac twin is a severely malformed monochorionic twin fetus that lacks most organs, particularly a heart. It grows during pregnancy, because it is perfused by its developmentally normal co-twin (called the pump twin) via a set of placental arterioarterial and venovenous anastomoses. The pump twin dies intrauterine or neonatally in about 50% of the cases due to congestive heart failure, polyhydramnios and prematurity. Because the pathophysiology of this pregnancy is currently incompletely understood, we modified our previous haemodynamic model of monochorionic twins connected by placental vascular anastomoses to include the analysis of acardiac twin pregnancies. We incorporated the fetoplacental circulation as a resistance circuit and used the fetal umbilical flow that perfuses the body to define fetal growth, rather than the placental flow as done previously. Using this modified model, we predicted that the pump twin has excess blood volume and increased mean arterial blood pressure compared to those in the acardiac twin. Placental perfusion of the acardiac twin is significantly reduced compared to normal, as a consequence of an increased venous pressure, possibly implying reduced acardiac placental growth. In conclusion, the haemodynamic analysis may contribute to an increased knowledge of the pathophysiologic consequences of an acardiac body mass for the pump twin.

Intracerebral hemorrhage: a life-threatening complication of hypertension during pregnancy.

PubMed

Dai, Xuming; Diamond, Joseph A

2007-11-01

Intracerebral hemorrhage (ICH) is an infrequent but severe complication in pregnant women with hypertension. The authors describe a patient with chronic hypertension who developed superimposed preeclampsia and spontaneous ICH during the thirty-fifth week of pregnancy. ICH was diagnosed by computed tomographic scan. She underwent successful emergent cesarean section and neurosurgical decompression of the ICH. Both intraoperative surveillance and postoperative magnetic resonance angiographic examination of the cerebral vessels failed to identify an aneurysm or arteriovenous malformation. The authors discuss the diagnosis and management in this case and review the literature regarding this challenging complication of pregnancy and preeclampsia. Controversies regarding treatment of hypertension during pregnancy are discussed in light of the impact on the management of this patient.

Complications in head and neck surgery.

PubMed

Christison-Lagay, Emily

2016-12-01

Head and neck anatomy is topographically complex and the region is densely populated by vital nerves and vascular and lymphatic structures. Injury to many of these structures is associated with significant morbidity and may even be fatal. A thorough knowledge of regional anatomy is imperative and complications need to be managed in a thoughtful directed manner. The pediatric surgeon may be called upon to address both congenital and acquired conditions and should be prepared to encounter reoperative fields after failed initial surgery. This review summarizes the current literature on four frequently encountered surgical conditions of the head and neck: branchial cleft anomalies, thyroglossal duct cyst, thyroid disease, and lymphatic malformations, with a focus on the prevention and treatment of complications. Copyright © 2016 Elsevier Inc. All rights reserved.

Prospective follow-up of 838 fetuses conceived after ovarian stimulation with corifollitropin alfa: comparative and overall neonatal outcome.

PubMed

Bonduelle, Maryse; Mannaerts, Bernadette; Leader, Arthur; Bergh, Christina; Passier, Dorrie; Devroey, Paul

2012-07-01

Is treatment with corifollitropin alfa, a new recombinant gonadotrophin with sustained follicle-stimulating activity, safe in terms of perinatal complications and birth defects in infants conceived following corifollitropin alfa treatment for contolled ovarian stimulation (COS)? In terms of neonatal outcome and risk of malformations, treatment with a single dose of corifollitropin alfa during COS is as safe as treatment with daily recombinant FSH (rFSH). This is the first pooled analysis of individual safety data in terms of neonatal outcome and major and minor congenital malformations collected following intervention trials of corifollitropin alfa. Pregnancy and follow-up studies were conducted prospectively and data were collected from all Phase II and III trials with corifollitropin alfa intervention, including two comparative randomized controlled trials (RCTs) in which patients received either a single dose of corifollitropin alfa or daily rFSH for the first 7 days of COS. Patients with ongoing pregnancies at 10 weeks after embryo transfer were followed up to labour and the health of the offspring was assessed up to 4-12 weeks after birth. Following corifollitropin alfa treatment prior to IVF or ICSI, the health of 677 pregnant women, 838 fetuses and 806 live born infants was evaluated. Among 440 fetuses in the corifollitropin alfa arm and 381 fetuses in the rFSH arm of the two RCTs, there were 424 (96.4%) and 370 (98.7%) live births, respectively. Neonatal characteristics, the frequency of premature births and the incidence of infant adverse events were similar in both treatment arms. The overall incidence of any congenital malformations in live born infants was 16.3 and 17.0%, with major malformation rates of 4.0 and 5.4% in the corifollitropin alfa and rFSH groups, respectively [odds ratio (OR) for major malformations, 0.71; 95% confidence interval, 0.36-1.38]. From 838 fetuses assessed in all corifollitropin alfa intervention trials, there were 806 (96.2%) live births with a major malformation rate of 4.5% in live born infants. Both RCTs had a double-blind and active-controlled design and the adjudication of congenital malformations was also performed in a blinded fashion. As the total number of major malformations was limited (37), the confidence interval around the OR was rather wide. GENERALISABILITY TO OTHER POPULATIONS: The similarity of corifollitropin alfa and rFSH with respect to the incidence of congenital malformations was consistent across the RCTs and pregnancy type (singleton, multiple). This suggests that this similarity could hold in general. Overall incidences, however, may depend on the definitions of malformations and rules to adjudicate these events as major or minor.

[The safety profile of escitalopram in pregnancy and breastfeeding].

PubMed

Bellantuono, Cesario; Orsolini, Laura; Bozzi, Francesca

2013-01-01

Escitalopram (ESC) is considered one of the most effective selective serotonin reuptake inhibitors (SSRI) for the treatment of major depression disorder. However, little is known on its potential risk of inducing major malformations (MM) and/or perinatal complications (PC). Aim of the present study is to provide a review of the available literature on the safety profile of ESC during pregnancy and breastfeeding and to compare data with the maternal and neonatal outcomes of 8 cases of the DEGRA Center. MEDLINE and PubMed databases were searched for English language articles by using the following keywords: "escitalopram", "selective serotonin reuptake inhibitors", "major malformations", "perinatal complications", "pregnancy", "breastfeeding". We also reported 8 cases of women treated with ESC during their pregnancy and breastfeeding at the Clinic of Affective Disorders in Pregnancy and Postpartum of the United Hospital of Ancona (DEGRA Center). Although some cases of MM have been reported in the literature after maternal exposure to ESC during early pregnancy, the rate of MM is substantially in the range of those reported in unexposed women. ESC exposure seems to be significantly associated with some PC such as lower rates of live births and higher rates of newborns with low birth weight. On the contrary, no short-term adverse effects in newborns were reported in the 5 studies evaluating the safety of ESC during breastfeeding. Data coming from DEGRA Center are consistent with the literature: all pregnancy were full term, all newborns were healthy and obtained normal APGAR score; no MM or miscarriage were reported. Only one case of mild withdrawal syndrome was reported in a newborn who was also exposed to benzodiazepines and paroxetine late in pregnancy. Two infants exposed to ESC also during the lactation did not reported any adverse effects at short-term. Data coming from published studies and from our cases seem to support the notion that ESC might be considered safe during pregnancy and breastfeeding, particularly as far as MM is concerned. As well as other SSRI it could be associated with an increased risk of PC. Nevertheless, given the few cases here analysed and the paucity of the studies so far published, no definitive conclusions should be drawn.

Nutritional assessment of a population with a history of childhood craniopharyngioma seen at Hospital "Prof. Dr. Juan P. Garrahan".

PubMed

Caminiti, Carolina; Saure, Carola; Bomer, Ilanit; Brea, Mercedes; González Ramos, Javier

2017-02-01

Craniopharyngiomas are histologically benign malformations located between the pituitary and hypothalamus that may affect key hormone secretion for endocrine regulation and satiety modulation. Although this is a relatively benign disease, the combination of severe hypothalamic obesity and associated comorbidities results in a reduced quality of life. To assess the nutritional status of patients after craniopharyngioma surgery. Patients younger than 21 years old at the time of the study who required craniopharyngioma surgery at Hospital de Pediatr.a Garrahan and who signed an informed consent. Anthropometric characteristics, body composition by impedance analysis, energy expenditure by indirect calorimetry and energy intake were assessed. Insulin resistance and dyslipemia were estimated. A total of 39 patients were included; 41% had a normal weight and 59% were obese. Overall, 68% of patients had a central fat distribution; 40% had insulin resistance; and 32%, dyslipemia. No significant differences were observed in terms of insulin resistance, dyslipemia, energy expenditure at rest, or energy intake between normal weight and obese patients. Among obese patients, 77% had a low energy expenditure, regardless of their percentage of lean body mass (62 Å} 2.7% versus 61.2 Å} 1.8% of normal versus low energy expenditure at rest; p = 0.8). A total of 59% of the studied population was obese. No significant differences were observed in terms of metabolic complications between normal weight and obese patients. A lower energy expenditure was observed, regardless of the lean body mass percentage and a similar energy intake. Sociedad Argentina de Pediatría

Fiber-probe optical spectroscopy discriminates normal brain from focal cortical dysplasia in pediatric subjects

NASA Astrophysics Data System (ADS)

Anand, Suresh; Cicchi, Riccardo; Giordano, Flavio; Conti, Valerio; Buccoliero, Anna Maria; Guerrini, Renzo; Pavone, Francesco S.

2017-02-01

Focal cortical dysplasia (FCD) is an abnormality in the cerebral cortex that is caused by malformations during cortical development. Currently, magnetic resonance imaging (MRI) and electro-corticography (ECoG) are used for detecting FCD. On the downside, MRI is very much insensitive to small malformations in the brain, while ECoG is an invasive and time consuming procedure. Recently, optical techniques were widely exploited as a minimally invasive and quantitative approaches for disease diagnosis. These techniques include fluorescence and Raman spectroscopy. The aim of this investigation is to study the diagnostic performances of optical spectroscopy incorporating fluorescence (at 378 nm and 445 nm excitation wavelengths) and Raman spectroscopy (at 785 nm excitation) for the discrimination of FCD from normal brain in pediatric subjects. The study included 10 normal and 17 FCD tissue sites from 3 normal and 7 FCD samples. The emission spectra of FCD at 378 nm excitation wavelength presented a blue-shifted peak with respect to normal tissue. Prominent spectral differences between normal and FCD tissue were observed at 1298 cm-1, 1302 cm-1, 1445 cm-1 and 1660 cm-1 using Raman spectroscopy. Tissue classification models were developed using a multivariate statistical method, principal component analysis. This study demonstrates that a combined spectroscopic approach can provide a better diagnostic capability for classifying normal and FCD tissues. Further, the implementation of the technology within a fiber probe could open the way for in vivo diagnostics and intra-operative surgical guidance.

Awake Craniotomy in Arteriovenous Malformation Surgery: The Usefulness of Cortical and Subcortical Mapping of Language Function in Selected Patients.

PubMed

Gamble, Alexander J; Schaffer, Sarah G; Nardi, Dominic J; Chalif, David J; Katz, Jeffery; Dehdashti, Amir R

2015-11-01

Awake craniotomy for removal of intra-axial lesions is a well-established procedure. Few studies, however, have investigated the usefulness of this approach for resection of arteriovenous malformations adjacent to eloquent language areas. We demonstrate our experience by using cortical stimulation mapping and report for the first time on the usefulness of subcortical stimulation with interrogation of language function during resection of arteriovenous malformations (AVMs) located near language zones. Patients undergoing awake craniotomy for AVMs located in language zones and at least 5 mm away from the closest functional magnetic resonance imaging activation were analyzed. During surgery, cortical bipolar stimulation at 50 Hz, with an intensity of 2 mA, increased to a maximum of 10 mA was performed in the region around the AVM before claiming it negative for language function. In positive language site, the area was restimulated 3 times to confirm the functional deficit. The AVM resection was started based on cortical mapping findings. Further subcortical stimulation performed in concert with speech interrogation by the neuropsychologist continued at key points throughout the resection as feasible. The usefulness of cortical and subcortical stimulation in addition to patient outcomes was analyzed. Between March 2009 and September 2014, 42 brain AVM resections were performed. Four patients with left-sided language zone AVMs underwent awake craniotomy. The AVM locations were fronto-opercular in 2 patients and posterior temporal in 2. The AVM Spetzler-Martin grades were II (2 patients) and III (2 patients). In 1 patient, complete speech arrest was noticed during mapping of the peri-malformation zone, which was not breached during resection. In a second patient who initially demonstrated negative cortical mapping, a speech deficit was noticed during resection and subcortical stimulation. This guided the approach to protect and avoid the sensitive zone. This patient experienced mild postoperative expressive dysphasia that improved to normal within 6 weeks. Complete resection was achieved in all 4 patients. There were no other complications and no permanent neurological morbidity, resulting in good outcome in all 4 patients. Language mapping, both cortical and subcortical during AVM resection, may be valuable in a very select group of AVMs in language zones. Defining safe margins and feedback to the surgeon may provide the highest chances of a surgical cure while minimizing the risk of incurring a language deficit. Copyright © 2015 Elsevier Inc. All rights reserved.

[The embolisation of venous malformations].

PubMed

Barbera, L; Fiedler, H-W; Krauss, M

2012-10-01

The treatment of congenital, vascular malformations is a challenge for physicians and patients. Although different therapeutic options have been described to date, their individual relevance has still to be defined. Â METHODS: We performed a retrospective study of 61 patients with a venous malformation (VM, mean age 22  years), who were referred to our depart-ment during the last 5 years. The size of the VM was larger than 5  cm in 41 patients (66 %). The lower extremities were involved in 45  cases (73 %). The most frequent clinical manifestations were recurrent swelling (80 %), pain (63 %), varicosis (60 %) and thrombophlebitis (39 %). MR angiography with venous sequences was always performed before treatment. Depending on the localisation and the extension of the VM, different techniques of embolisation were selected: foam sclerotherapy or application of synthetic glue by direct punction, coiling of pelvic veins or arterial embolisation with glue. 42  patients (69 %) underwent a procedure because of the complaints or the extension of the VM. An embolisation was performed in 25  patients with 65  interventional sessions. The most frequent technique was foam sclerotherapy (45 ×), followed by glue injection (13 ×), pelvic -venous coiling (6 ×) and arterial embolisation with glue (1 ×). Fifteen patients (60 %) reported a very good and 8  patients a marked improvement (32 %). In two cases there was no change of the complaints. The postinterventional complications were severe pain (n = 3) and skin/fat necrosis at the toe of one patient. The embolisation of venous malformations is an effective therapeutic tool. Different techniques can be used to address specific localisations and morphological patterns. The com-plication rate is very low when a step-by-step -approach is used, so that a repeat intervention is feasible. However, a more specific documentation of the post-interventional changes of the VM is needed before a general recommendation can be given. © Georg Thieme Verlag KG Stuttgart ˙ New York.

Diagnosis and surgical treatment of a Chiari I-like malformation in an African lion (Panthera leo).

PubMed

McCain, Stephanie; Souza, Marcy; Ramsay, Ed; Schumacher, Juergen; Hecht, Silke; Thomas, William

2008-09-01

A 13-mo-old intact male African lion (Panthera leo) presented with a 3-mo history of lethargy, ventral flexion of the neck, abnormal vocalization, and ataxia. Hemogram and serum biochemistries were within normal limits except for the presence of hypokalemia (2.7 mEq/L) and hypochloridemia (108 mEq/L). When no improvement was noted with oral potassium gluconate supplementation, a computed tomography scan of the brain and skull was performed, and no abnormalities were noted. However, magnetic resonance imaging detected occipital bone thickening, crowding of the caudal cranial fossa with cerebellar compression and herniation, and cervical syringohydromyelia, which was consistent with a Chiari I-like malformation. Foramen magnum decompression was performed to relieve the compression of the cerebellum. The animal recovered well with subsequent resolution of clinical signs. Hypovitaminosis A has been proposed previously as the underlying etiology for this malformation in lions with similar clinical presentations. This lion's serum and liver vitamin A concentrations were low (100 ng/ml and 25.31 microg/g, respectively) compared to concentrations reported for domestic carnivores and support hypovitaminosis A as the underlying cause of this animal's Chiari I-like malformation.

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

PubMed Central

Aldinger, Kimberly A; Lehmann, Ordan J; Hudgins, Louanne; Chizhikov, Victor V; Bassuk, Alexander G; Ades, Lesley C; Krantz, Ian D; Dobyns, William B; Millen, Kathleen J

2010-01-01

Dandy-Walker malformation (DWM), the most common human cerebellar malformation, has only one characterized associated locus1,2. Here we characterize a second DWM-linked locus on 6p25.3, showing that deletions or duplications encompassing FOXC1 are associated with cerebellar and posterior fossa malformations including cerebellar vermis hypoplasia (CVH), mega-cisterna magna (MCM) and DWM. Foxc1-null mice have embryonic abnormalities of the rhombic lip due to loss of mesenchyme-secreted signaling molecules with subsequent loss of Atoh1 expression in vermis. Foxc1 homozygous hypomorphs have CVH with medial fusion and foliation defects. Human FOXC1 heterozygous mutations are known to affect eye development, causing a spectrum of glaucoma-associated anomalies (Axenfeld-Rieger syndrome, ARS; MIM no. 601631). We report the first brain imaging data from humans with FOXC1 mutations and show that these individuals also have CVH. We conclude that alteration of FOXC1 function alone causes CVH and contributes to MCM and DWM. Our results highlight a previously unrecognized role for mesenchyme-neuroepithelium interactions in the mid-hindbrain during early embryogenesis. PMID:19668217

Asystole During Onyx Embolization of a Pediatric Arteriovenous Malformation: A Severe Case of the Trigeminocardiac Reflex.

PubMed

Khatibi, Kasra; Choudhri, Omar; Connolly, Ian D; McTaggart, Ryan A; Do, Huy M

2017-02-01

Trigeminal-cardiac reflex (TCR) from the stimulation of sensory branches of trigeminal nerve can lead to hemodynamic instability. This phenomenon has been described during ophthalmologic, craniofacial, and skull base surgeries. TCR has been reported rarely with endovascular onyx embolization of dural arteriovenous fistulas. We report a case of TCR during endovascular Onyx embolization of an arteriovenous malformation (AVM). A 16-year-old boy presented with a large cerebellar AVM with arterial feeders from the external carotid artery and posterior cerebral artery branches. The middle meningeal artery was catheterized, through which dimethyl sulfoxide was injected, followed by Onyx, into the nidus and the feeders. Near the completion of embolization, patient became bradycardic and proceeded to asystole; he was resuscitated with chest compression, atropine, and vasopressors. We used PubMed to identify the reported cases of Onyx and other endovascular embolizations complicated by hemodynamic instability. We found 16 cases of endovascular onyx embolization complicated by clinically significant hemodynamic changes in the treatment of dural arteriovenous fistula, cavernous carotid fistula, and juvenile nasopharygeal angiofibroma but not with AVMs. In these cases, arterial supply to the nidus involved the sensory receptive field of trigeminal nerve. Hemodynamic changes have been reported during the injection of dimethyl sulfoxide before the introduction of Onyx, as well as Onyx injection and cast formation. TCR can lead to significant hemodynamic changes during endovascular Onyx embolization of vascular malformations (both pial AVM and dural arteriovenous fistulas) involving receptive field of trigeminal nerve. Therefore, the anesthesiologist should be made aware of treatment approach before intervention and appropriate precautions taken. Copyright © 2016 Elsevier Inc. All rights reserved.

Exposure to aripiprazole during embryogenesis: a prospective multicenter cohort study.

PubMed

Bellet, Florelle; Beyens, Marie-Noëlle; Bernard, Nathalie; Beghin, Delphine; Elefant, Elisabeth; Vial, Thierry

2015-04-01

The main purpose of this study was to evaluate the risk of major malformations after aripiprazole exposure during the embryonic period. The secondary purposes were to assess the risk of miscarriage, prematurity, fetal growth retardation and maternal complications and to describe possible neonatal adverse effects. We conducted a cohort study using data prospectively collected by the French Pharmacovigilance Centres participating to the Terappel program and the Centre de Référence sur les Agents Tératogènes between 2004 and 2011. The exposed group consisted of pregnant women exposed to aripiprazole during embryogenesis, and the unexposed group consisted of pregnant women without exposure or exposed to non-teratogenic agents. Two unexposed patients, matched for age and gestational age at call, were randomly selected for each exposed patient. Eighty-six patients were included in the exposed group and 172 in the unexposed group. Exposure to aripiprazole was not significantly associated with an increased rate of major malformations (OR 2.30, 95%CI 0.32-16.7) or miscarriage (1.66, 0.63-4.38) or gestational diabetes (1.15, 0.33-4.04) compared to non-exposure. The study revealed significantly increased rates of prematurity (OR 2.57, 95%CI 1.06-6.27) and fetal growth retardation (2.97, 1.23-7.16) in exposed newborns, difficult to interpret because of the short duration of maternal exposure. Two cases of neonatal complications were reported among the 19 newborns exposed to aripiprazole near delivery. This study failed to demonstrate a significant association between aripiprazole exposure during the embryonic period and major malformations. More powerful prospective studies are required to clarify the reproductive safety profile of aripiprazole. Copyright © 2015 John Wiley & Sons, Ltd.

Does the type and size of Amplatzer vascular plug affect the occlusion time of pulmonary arteriovenous malformations?

PubMed Central

Abdel-Aal, Ahmed Kamel; Massoud, Moustafa Omar; Elantably, Dina Mahmoud

2017-01-01

PURPOSE Occlusion time (OT) is an important factor in the treatment of pulmonary arteriovenous malformations (PAVMs) since it can lead to serious complications. The purpose of our study is to calculate the OT of Amplatzer vascular plug (AVP, St Jude Medical), and correlate it to the type of the device used (AVP or AVP 2) and the percent of device oversizing. Technical success rates and complications were also recorded. METHODS We retrospectively studied a total of 19 patients with 47 PAVMs who received percutaneous transcatheter embolization therapy using either AVP or AVP 2. We recorded the location, type, feeding artery diameter, AVP device used, and OT of each PAVM. We correlated the percent of device oversizing and the type of AVP with the OT. We also studied the rate of persistence of PAVM for both devices. RESULTS Forty-six (98%) of the PAVMs were simple. Device diameters ranged from 4.0–16.0 mm with device oversizing ranging between 14% and 120%. There was a statistically significant difference in the OT of AVP and AVP 2 (3 min 54 s vs. 5 min 30 s, P = 0.030). There was a weak positive correlation between OT and device oversizing for AVP (r=0.246, P = 0.324) and AVP 2 (r=0.261, P = 0.240). No major complications were identified. Immediate technical success rate was 100%. CONCLUSION The use of AVP 2, and increase in device oversizing were not associated with reduction in the OT of PAVMs. There was no reported difference in safety between the two devices, and no major complications were noted. PMID:27856403

Outcomes and Complications After Endovascular Treatment of Brain Arteriovenous Malformations: A Prognostication Attempt Using Artificial Intelligence.

PubMed

Asadi, Hamed; Kok, Hong Kuan; Looby, Seamus; Brennan, Paul; O'Hare, Alan; Thornton, John

2016-12-01

To identify factors influencing outcome in brain arteriovenous malformations (BAVM) treated with endovascular embolization. We also assessed the feasibility of using machine learning techniques to prognosticate and predict outcome and compared this to conventional statistical analyses. A retrospective study of patients undergoing endovascular treatment of BAVM during a 22-year period in a national neuroscience center was performed. Clinical presentation, imaging, procedural details, complications, and outcome were recorded. The data was analyzed with artificial intelligence techniques to identify predictors of outcome and assess accuracy in predicting clinical outcome at final follow-up. One-hundred ninety-nine patients underwent treatment for BAVM with a mean follow-up duration of 63 months. The commonest clinical presentation was intracranial hemorrhage (56%). During the follow-up period, there were 51 further hemorrhagic events, comprising spontaneous hemorrhage (n = 27) and procedural related hemorrhage (n = 24). All spontaneous events occurred in previously embolized BAVMs remote from the procedure. Complications included ischemic stroke in 10%, symptomatic hemorrhage in 9.8%, and mortality rate of 4.7%. Standard regression analysis model had an accuracy of 43% in predicting final outcome (mortality), with the type of treatment complication identified as the most important predictor. The machine learning model showed superior accuracy of 97.5% in predicting outcome and identified the presence or absence of nidal fistulae as the most important factor. BAVMs can be treated successfully by endovascular techniques or combined with surgery and radiosurgery with an acceptable risk profile. Machine learning techniques can predict final outcome with greater accuracy and may help individualize treatment based on key predicting factors. Copyright © 2016 Elsevier Inc. All rights reserved.

The morbidity of a divided stoma compared to a loop colostomy in patients with anorectal malformation.

PubMed

Liechty, Shawn T; Barnhart, Douglas C; Huber, Jordan T; Zobell, Sarah; Rollins, Michael D

2016-01-01

Loop colostomies may contaminate the genitourinary (GU) tract in patients with anorectal malformations (ARM) owing to incomplete diversion of stool. Stoma complications are also thought to be higher with a loop versus divided colostomy. We sought to compare the morbidity, including urinary tract infections (UTI), in these two types of colostomies in children with ARM. A review was performed at a children's hospital (1989-2014). Children with ARM who had a colostomy performed were identified. Demographic data and outcome variables were collected. Analyses included Student's t-test, Fischer's exact and logistic regression as appropriate. 171 patients were identified (loop=78; divided=93). Thirty percent of patients with a divided colostomy and 24% with a loop experienced a stoma complication (p=0.5). A subgroup analysis of children with a rectourinary fistula (54 divided, 26 loop) was performed to assess for effect of colostomy type on UTI. After controlling for other UTI risk factors (major GU anomalies, vesicostomy, and prophylactic antibiotics), loop ostomies were not associated with risk of UTI (OR 0.83, 95% CI 0.27-2.63). No patient with a loop colostomy developed megarectum. Children with ARM who undergo a loop colostomy are not at a detectable increased risk of experiencing a UTI compared to a divided stoma. The rate of stoma complication is high regardless of the type of stoma created. Copyright © 2016 Elsevier Inc. All rights reserved.

A challenging entity of endovascular embolization with ONYX for brainstem arteriovenous malformation: Experience from 13 cases.

PubMed

Jin, Hengwei; Liu, Zhan; Chang, Qing; Chen, Chang; Ge, Huijian; Lv, Xianli; Li, Youxiang

2017-10-01

Objective Brainstem arteriovenous malformations (AVMs) are rare lesions with a high risk of intracranial hemorrhage and are challenging to treat. We present our experience of endovascular embolization with Onyx in these aggressive lesions. Materials and methods Between 2007 and 2016, 13 patients with brainstem AVMs were embolized with Onyx at our center. Twelve patients presented with intracranial hemorrhage and one with headache. Retrospective examinations of patient demographics, clinical presentation, angiographic features, treatment modalities, postoperative complications and outcomes were carried out. Results The AVMs were in the midbrain in 10 patients (one anterior and nine posterior or dorsal), in the posterior pons in two and pontomedullary in one. Complete occlusion was achieved in three patients. Gamma knife radiosurgery was performed in six patients who were near-completely or partially embolized. Postoperative complications, including five cases of ischemia and one case of hemorrhage, resulted in four cases of neurological deterioration and two deaths. Clinical follow-up was obtained in 10 patients at a mean period of 45.2 months (range 3 to 93 months). During the follow-up, good clinical outcomes were observed in seven patients with posterior or dorsal midbrain AVMs, and one patient with a posterior pons AVM that was partially occluded died of intracranial hemorrhage. Conclusion Endovascular embolization for brainstem AVM with Onyx is a technical challenge and the reflux of Onyx may cause severe complications. Individualized treatment is needed based on the specific subtype of brainstem AVM.

Developments in the treatment of Chiari type 1 malformations over the past decade

PubMed Central

Pyne, Alexandra; Horn, Samantha R.; Poorman, Gregory W.; Janjua, Muhammad B.; Vasquez-Montes, Dennis; Bortz, Cole A.; Segreto, Frank A.; Frangella, Nicholas J.; Siow, Matthew Y.; Sure, Akhila; Zhou, Peter L.; Moon, John Y.; Diebo, Bassel G.; Vira, Shaleen N.

2018-01-01

Background Chiari malformations type 1 (CM-1), a developmental anomaly of the posterior fossa, usually presents in adolescence or early adulthood. There are few studies on the national incidence of CM-1, taking into account outcomes based on concurrent diagnoses. To quantify trends in treatment and associated diagnoses, as retrospective review of the Kid’s Inpatient Database (KID) from 2003-2012 was conducted. Methods Patients aged 0–20 with primary diagnosis of CM-1 in the KID database were identified. Demographics and concurrent diagnoses were analyzed using chi-squared and t-tests for categorical and numerical variables, respectively. Trends in diagnosis, treatments, and outcomes were analyzed using analysis of variance (ANOVA). Results Five thousand four hundred and thirty-eight patients were identified in the KID database with a primary diagnosis of CM-1 (10.5 years, 55% female). CM-1 primary diagnoses have increased over time (45 to 96 per 100,000). CM-1 patients had the following concurrent diagnoses: 23.8% syringomyelia/syringobulbia, 11.5% scoliosis, 5.9% hydrocephalus, 2.2% tethered cord syndrome. Eighty-three point four percent of CM-1 patients underwent surgical treatment, and rate of surgical treatment for CM-1 increased from 2003–2012 (66% to 72%, P<0.001) though complication rate decreased (7% to 3%, P<0.001) and mortality rates remained constant. Seventy percent of surgeries involved decompression-only, which increased neurologic complications compared to fusions (P=0.039). Cranial decompressions decreased from 2003–2012 (42.2–30.5%) while spinal decompressions increased (73.1–77.4%). Fusion rates have increased over time (0.45% to 1.8%) and are associated with higher complications than decompression-only (11.9% vs. 4.7%). Seven point four percent of patients experienced at least one peri-operative complication (nervous system, dysphagia, respiratory most common). Patients with concurrent hydrocephalus had increased; nervous system, respiratory and urinary complications (P<0.006) and syringomyelia increased the rate of respiratory complications (P=0.037). Conclusions CM-1 diagnoses have increased in the last decade. Despite the decrease in overall complication rates, fusions are becoming more common and are associated with higher peri-operative complication rates. Commonly associated diagnoses including syringomyelia and hydrocephalus, can dramatically increase complication rates. PMID:29732422

[Pregnancy and labor associated with encephalopathy in neonates during the early neonatal period].

PubMed

Skrablin, S; Drazancić, A; Letica, N; Tadić, V

1992-01-01

Pregnancy complications, drugs and surgical interventions during pregnancy, fetal growth, medications and interventions during labor, labor complications as well as fetal heart activity during labor in a group of 114 term infants without malformations, but with signs of central nervous system (CNS) damage throughout early neonatal period are compared with paired group of term healthy infants born in the same presentation and mode of delivery. Among prelabor factors only maternal hypertension (found in 16.7% of encephalopathy children versus 0.8% in a control group) was significantly correlated with CNS damage. Fetal growth retardation and long term ritodrine administration were found more frequent in encephalopathy than in healthy group of infants, although statistical significance between the groups could not be demonstrated. A prolonged second stage of labor, high oxytocin dosage, too frequent uterine contractions and vacuum extractions were found significantly correlated with neonatal encephalopathy. CTG pattern during labor was normal in only 28.9% of children, with encepalopathy prepathologic in 46.4% and pathologic in 24.7%. The respective percentages for healthy newborns were: 82.5%, 16.25% and 1.2%. All differences between the groups were statistically significant. Mean duration of prepathologic CTG score in the group of infants with encephalopathy (78.8 minutes) as well as of pathologic score (51.7 minutes) was significantly longer than in healthy infants (23.7 minutes prepathologic and 7 minutes pathologic).(ABSTRACT TRUNCATED AT 250 WORDS)

Hereditary Hemorrhagic Telangiectasia Management.

PubMed

Peterson, Jeffrey

2017-01-01

Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that can lead to frequent and severe sequelae. Although the condition has no cure, many of its physical symptoms can be managed to improve the quality of life and lower the risk of life-threatening complications. This article discusses HHT presentation, genetic screening, diagnosis, and management. The management of HHT can involve interventional radiology techniques, particularly for patients with pulmonary arteriovenous malformations.

My approach to performing a perinatal or neonatal autopsy

PubMed Central

Wainwright, H C

2006-01-01

An opportunity to determine the cause of death, factors that may have a role in it, and the extent and cause of malformations is provided by perinatal autopsy. The family may be assisted in finding closure after the death of their infant by the information obtained. Insight into classifying infants appearing normal into one of three groups, small, appropriate and large for gestational age, has been provided, as each group tends to have specific causes of death. In infants with congenital anomalies, patterns of malformation may lead us to the diagnosis. An accurate diagnosis is required to provide counselling for a subsequent pregnancy. PMID:16803946

Brain Arteriovenous Malformation Pathogenesis: A Response-to-Injury Paradigm

PubMed Central

Kim, Helen; Su, Hua; Weinsheimer, Shantel; Pawlikowska, Ludmila; Young, William L.

2011-01-01

Brain arteriovenous malformations (AVMs) are a rare but important cause of intracranial hemorrhage (ICH) in young adults. In this paper, we review both human and animal studies of brain AVM, focusing on the: (1) natural history of AVM hemorrhage; (2) genetic and expression studies of AVM susceptibility and hemorrhage; and (3) strategies for development of a brain AVM model in adult mice. These data target various mechanisms which must act in concert to regulate normal angiogenic response to injury. Based on the various lines of evidence reviewed in this paper, we propose a “response-to-injury” model of brain AVM pathogenesis. PMID:21725736

Anomalies of the middle and inner ear.

PubMed

Rodriguez, Kimsey; Shah, Rahul K; Kenna, Margaret

2007-02-01

The development of the middle and inner ear highlights the intricacy of embryology. As early as 3 weeks after fertilization, the inner ear begins taking form. This process, along with development of the middle ear, continues throughout gestation. At birth, the middle ear, inner ear, and associated structures are almost adult size. An understanding of the embryologic development of the ear serves as a foundation for evaluating and managing congenital malformations of these structures. The focus of this article is the normal, abnormal, and arrested development of the middle and inner ear, with a clinical emphasis on malformed middle and inner ear structures and a discussion of associated syndromes.

Early analysis of operative management of Chiari I malformation in pediatric cystic fibrosis patients.

PubMed

Samples, Derek C; Thoms, Dewey J; Tarasiewicz, Izabela

2018-04-02

Chiari I malformation, defined as herniation of the cerebellar tonsils at least 5 mm below the foramen magnum, can result from congenital or acquired pathology. While the mechanism is not well understood, an association between Chiari I and cystic fibrosis has been described in the literature. The lifelong respiratory status management necessitated by cystic fibrosis creates a greater risk of Chiari symptomatology as well as post-operative CSF-related complications in the setting of duraplasty secondary to recurrent transient increases in intracranial pressure. We will review the literature, describe our experience with these patients, and propose bony decompression as an approach to treatment. A retrospective review of pediatric patients treated at our institution with both cystic fibrosis and Chiari I was performed. Since our first case in 2016, our department has evaluated four patients carrying that dual diagnosis. All four underwent posterior fossa decompression surgery. Two patients had incidental pathology. Two symptomatic patients exhibited headaches and/or coordination difficulty. Half of the patients had associated syringomyelia. All patients were offered posterior fossa decompression utilizing intraoperative ultrasound. All four patients underwent posterior fossa decompression without duraplasty. Average operative time was 128 min. There were no complications post-operatively. Average hospital stay was 3.8 days. Average surgical length of stay was 2.3 days. Morbidity and mortality were 0%. The longest follow-up to date is 20 months. The two asymptomatic patients remained so post-operatively. The child with headaches and imbalance had complete resolution of his symptoms after surgery, as did the toddler with headaches. Both patients with syringomyelia demonstrated significant decrease in the size of their syrinxes on imaging performed at least 3 months post-operatively. Based on the literature and our experience, we recommend considering posterior fossa decompression without duraplasty as treatment for pediatric cystic fibrosis patients with Chiari I malformation. This approach can be effective for symptomatic and prophylactic cases in this particular patient demographic because their comorbidities predispose them to Chiari pathology and symptomatology as well as certain post-operative complications.

The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18

PubMed Central

Gondré-Lewis, Marjorie C; Gboluaje, Temitayo; Reid, Shaina N; Lin, Stephen; Wang, Paul; Green, William; Diogo, Rui; Fidélia-Lambert, Marie N; Herman, Mary M

2015-01-01

The study of inborn genetic errors can lend insight into mechanisms of normal human development and congenital malformations. Here, we present the first detailed comparison of cranial and neuro pathology in two exceedingly rare human individuals with cyclopia and alobar holoprosencephaly (HPE) in the presence and absence of aberrant chromosome 18 (aCh18). The aCh18 fetus contained one normal Ch18 and one with a pseudo-isodicentric duplication of chromosome 18q and partial deletion of 18p from 18p11.31 where the HPE gene, TGIF, resides, to the p terminus. In addition to synophthalmia, the aCh18 cyclopic malformations included a failure of induction of most of the telencephalon – closely approximating anencephaly, unchecked development of brain stem structures, near absence of the sphenoid bone and a malformed neurocranium and viscerocranium that constitute the median face. Although there was complete erasure of the olfactory and superior nasal structures, rudiments of nasal structures derived from the maxillary bone were evident, but with absent pharyngeal structures. The second non-aCh18 cyclopic fetus was initially classified as a true Cyclops, as it appeared to have a proboscis and one median eye with a single iris, but further analysis revealed two eye globes as expected for synophthalmic cyclopia. Furthermore, the proboscis was associated with the medial ethmoid ridge, consistent with an incomplete induction of these nasal structures, even as the nasal septum and paranasal sinuses were apparently developed. An important conclusion of this study is that it is the brain that predicts the overall configuration of the face, due to its influence on the development of surrounding skeletal structures. The present data using a combination of macroscopic, computed tomography (CT) and magnetic resonance imaging (MRI) techniques provide an unparalleled analysis on the extent of the effects of median defects, and insight into normal development and patterning of the brain, face and their skeletal support. PMID:26278930

The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.

PubMed

Gondré-Lewis, Marjorie C; Gboluaje, Temitayo; Reid, Shaina N; Lin, Stephen; Wang, Paul; Green, William; Diogo, Rui; Fidélia-Lambert, Marie N; Herman, Mary M

2015-09-01

The study of inborn genetic errors can lend insight into mechanisms of normal human development and congenital malformations. Here, we present the first detailed comparison of cranial and neuro pathology in two exceedingly rare human individuals with cyclopia and alobar holoprosencephaly (HPE) in the presence and absence of aberrant chromosome 18 (aCh18). The aCh18 fetus contained one normal Ch18 and one with a pseudo-isodicentric duplication of chromosome 18q and partial deletion of 18p from 18p11.31 where the HPE gene, TGIF, resides, to the p terminus. In addition to synophthalmia, the aCh18 cyclopic malformations included a failure of induction of most of the telencephalon - closely approximating anencephaly, unchecked development of brain stem structures, near absence of the sphenoid bone and a malformed neurocranium and viscerocranium that constitute the median face. Although there was complete erasure of the olfactory and superior nasal structures, rudiments of nasal structures derived from the maxillary bone were evident, but with absent pharyngeal structures. The second non-aCh18 cyclopic fetus was initially classified as a true Cyclops, as it appeared to have a proboscis and one median eye with a single iris, but further analysis revealed two eye globes as expected for synophthalmic cyclopia. Furthermore, the proboscis was associated with the medial ethmoid ridge, consistent with an incomplete induction of these nasal structures, even as the nasal septum and paranasal sinuses were apparently developed. An important conclusion of this study is that it is the brain that predicts the overall configuration of the face, due to its influence on the development of surrounding skeletal structures. The present data using a combination of macroscopic, computed tomography (CT) and magnetic resonance imaging (MRI) techniques provide an unparalleled analysis on the extent of the effects of median defects, and insight into normal development and patterning of the brain, face and their skeletal support. © 2015 Anatomical Society.

Risk factors in limb reduction defects.

PubMed

Stoll, C; Alembik, Y; Dott, B; Roth, M P

1992-07-01

Risk factors were studied in 123 children with limb reduction defects (LRD) from 118,265 consecutive births of known outcome during the period from 1979 to 1987 in the area which is covered by our registry of congenital malformations. For each case a control was studied. The LRD was localised and classified according to the EUROCAT guide for the description and classification of limb defects. The prevalence of LRD was 1.04 per thousand: 82.9% of the babies were liveborn, 13.0% were late spontaneous abortion or stillborn and termination was performed in 4.0% of the cases. The proportion of males was 0.55. The most common malformations in the 51.2% of children who had at least one other anomaly than LRD were associated cardiac, digestive and renal anomalies. The pregnancy with limb anomalies was more often complicated by oligohydramnios, polyhydramnios and threatened abortion but there were no differences in parental characteristics. However, 9.7% of marriages were consanguineous (P less than 0.01) and the incidence of LRD in first-degree relatives of the children with LRD was high. First-degree relatives also had more non-limb malformations than did those of controls.

Stereotactic radiosurgery of angiographically occult vascular malformations: Indications and preliminary experience

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kondziolka, D.; Lunsford, L.D.; Coffey, R.J.

1990-12-01

Stereotactic radiosurgery has been shown to treat successfully angiographically demonstrated arteriovenous malformations of the brain. Angiographic obliteration has represented cure and eliminated the risk of future hemorrhage. The role of radiosurgery in the treatment of angiographically occult vascular malformations (AOVMs) has been less well defined. In the initial 32 months of operation of the 201-source cobalt-60 gamma knife at the University of Pittsburgh, 24 patients meeting strict criteria for high-risk AOVMs were treated. Radiosurgery was used conservatively; each patient had sustained two or more hemorrhages and had a magnetic resonance imaging-defined AOVM located in a region of the brain wheremore » microsurgical removal was judged to pose an excessive risk. Venous angiomas were excluded by performance of high-resolution subtraction angiography in each patient. Fifteen malformations were in the medulla, pons, and/or mesencephalon, and 5 were located in the thalamus or basal ganglia. Follow-up ranged from 4 to 24 months. Nineteen patients either improved or remained clinically stable and did not hemorrhage again during the follow-up interval. One patient suffered another hemorrhage 7 months after radiosurgery. Five patients experienced temporary worsening of pre-existing neurological deficits that suggested delayed radiation injury. Magnetic resonance imaging demonstrated signal changes and edema surrounding the radiosurgical target. Dose-volume guidelines for avoiding complications were constructed. Our initial experience indicates that stereotactic radiosurgery can be performed safely in patients with small, well-circumscribed AOVMs located in deep, critical, or relatively inaccessible cerebral locations.« less

An epidemiologic study of environmental and genetic factors in congenital hydrocephalus.

PubMed

Stoll, C; Alembik, Y; Dott, B; Roth, M P

1992-11-01

Risk factors were studied in 96 children with congenital hydrocephalus (CH) coming from 118,265 consecutive births of known outcome. Hydrocephalus with neural tube defects, intracranial tumors or secondary to brain atrophy were excluded. The prevalence of CH was 0.81 per thousand. Diagnosis was performed prenatally in 41 cases. Forty-three (44.8%) of the cases had hydrocephalus without other malformations (isolated hydrocephalus), 18 (18.7%) infants had recognized chromosomal or non-chromosomal syndromes and 35 children (36.4%) had multiple malformations. Each case was matched to a control. Weight and length at birth of children with hydrocephalus were less than in the controls (p < 0.001). The weight of the placenta was lower than in the controls (p < 0.05). The pregnancy with a hydrocephalic child was more often complicated by threatened abortion, polyhydramnios and oligohydramnios. The mothers of children with hydrocephalus and multiple malformations had used oral contraceptives during the first trimester of pregnancy more often than the mothers of the controls. No differences appeared between the mothers of children with CH and the controls for the other risk factors studied: parental age, parity, previous pregnancies, previous stillbirths, smoking, diabetes, epilepsy, X-rays, hypertension, fever "flu", medication and occupational exposure. There was an increase of parental consanguinity in the parents of our patients (6.2% v. 1.1%, p < 0.001) and first degree relatives had more non-cerebral malformations than the controls (7.3% v. 3.2%, p < 0.05).

Fourth Ventriculostomy in Occlusion of the Foramen of Magendie Associated with Chiari Malformation and Syringomyelia

PubMed Central

Orakdogen, Metin; Emon, Selin Tural; Erdogan, Baris; Somay, Hakan

2015-01-01

We present four cases of hydrocephalus caused by occlusion of foramen of Magendie associated with Chiari Type I malformation and syringomyelia. The aim of this study is to evaluate the results of surgical treatment via fourth ventriculostomy with catheter from the fourth ventricle to the upper cervical subarachnoid space. Obstructive tetraventricular hydrocephalus due to occlusion of the foramina of Luschka and Magendie can be treated with cerebrospinal fluid shunting, opening the membranes with suboccipital craniotomy, placement of a catheter, endoscopic third ventriculostomy, and endoscopic fourth ventriculostomy. Our aim was to solve all the pathologies such as Chiari malformation, hydrocephalus, and syringomyelia in one approach. Thus, the treatment consisted of posterior fossa decompression and exploration. All the patients were treated with suboccipital craniectomy and C1 laminectomy with excision of the membrane obstructing the foramen of Magendie. Fourth ventriculostomy with cathetering from fourth ventricle to upper cervical subarachnoid space was performed. The postoperative period was uneventful in all the patients. Neurological status of all the patients improved. Tetraventricular hydrocephalus and syrinx were reduced in the control cranial magnetic resonance imaging. Complications such as infection and catheter migration were not observed during the follow-up period. Treatment with fourth ventriculostomy using a catheter from fourth ventricle to upper cervical subarachnoid space could be a treatment of choice in cases with hydrocephalus caused by occlusion of the foramina of Magendie, with associated Chiari Type I malformation and syringomyelia. PMID:28663969

Klippel-Trenaunay syndrome complicated by ascites and vaginal lymphatic drainage in adolescence: a case report.

PubMed

Scribner, Dennis R; Lara-Torre, Eduardo; Heineck, Robert J; Weiss, Patrice M

2012-12-01

Klippel-Trenaunay syndrome is a rare disease characterized by capillary malformationsand soft tissue and bony hypertrophy and atypical varicosities. Management of this syndrome is focused primarily on treatment of the complications that arise from these malformations. Ascites and lymphedema are two of the more common complications in these patients. A 15-year-old female with Klippel-Trenaunay syndrome presented with chylous ascites, vaginal drainage, and unilateral lower extremity lymphedema. Treatment included dilation, hysteroscopy and curettage, and laparoscopic evacuation of abdomino-pelvic ascites with resolution of symptoms for 32 months. Repeat laparoscopic drainage was successful and remains symptom free after 12 months. Vaginal drainage of chylous ascites is a rare complication from Klippel-Trenaunay syndrome and can be successfully managed by techniques to remove abdomino-pelvic ascites. Copyright © 2012 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Children with congenital colorectal malformations often require special education or remedial teaching, despite normal intelligence.

PubMed

van den Hondel, Desiree; Aarsen, Femke K; Wijnen, Rene M H; Sloots, Cornelius E J; IJsselstijn, Hanneke

2016-02-01

This study prospectively evaluated neuropsychological functioning in 8-year-old patients with anorectal malformation (ARM) and Hirschsprung's disease (HD). School functioning and behaviour were assessed in a standardised interview. Intelligence, attention, self-esteem and quality of life were evaluated with validated tests and questionnaires. The following predictors were assessed: socio-economic status, number of episodes of general anaesthesia, laxative treatment and premature birth. Severely intellectually disabled patients were excluded. In total, twelve of the 23 (52%) patients with ARM and 11 (55%) of the 20 patients with HD received special education or remedial teaching. The intelligence quotient was normal: mean (standard deviation or SD) was 98 (17) and 96 (17), respectively. However, sustained attention was below the norm: mean (SD) Z-score was -1.90 (1.94) and -1.43 (1.98) for ARM and HD patients; both p < 0.01. Self-esteem was normal: mean (SD) Z-score was 0.10 (1.29) and -0.20 (1.11) for ARM and HD patients. Quality of life was normal in ARM patients and slightly impaired in HD patients. No predictors for neuropsychological outcome were identified. Despite normal intelligence, more than half of these patients received special education or remedial teaching. In addition, problems with sustained attention were found. These findings are important for long-term care. ©2015 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Functional Connectivity and Genetic Profile of a “Double-Cortex”-Like Malformation

PubMed Central

Sprugnoli, Giulia; Vatti, Giampaolo; Rossi, Simone; Cerase, Alfonso; Renieri, Alessandra; Mencarelli, Maria A.; Zara, Federico; Rossi, Alessandro; Santarnecchi, Emiliano

2018-01-01

Laminar heterotopia is a rare condition consisting in an extra layer of gray matter under properly migrated cortex; it configures an atypical presentation of periventricular nodular heterotopia (PNH) or a double cortex (DC) syndrome. We conducted an original functional MRI (fMRI) analysis in a drug-resistant epilepsy patient with “double-cortex”-like malformation to reveal her functional connectivity (FC) as well as a wide genetic analysis to identify possible genetic substrates. Heterotopias were segmented into region of interests (ROIs), whose voxel-wise FC was compared to that of (i) its normally migrated counterpart, (ii) its contralateral homologous, and (iii) those of 30 age-matched healthy controls. Extensive genetic analysis was conducted to screen cortical malformations-associated genes. Compared to healthy controls, both laminar heterotopias and the overlying cortex showed significant reduction of FC with the contralateral hemisphere. Two heterozygous variants of uncertain clinical significance were found, involving autosomal recessive disease-causing genes, FAT4 and COL18A1. This first FC analysis of a unique case of “double-cortex”-like malformation revealed a hemispheric connectivity segregation both in the laminar cortex as in the correctly migrated one, with a new pattern of genes’ mutations. Our study suggests the altered FC could have an electrophysiological and functional impact on large-scale brain networks, and the involvement of not yet identified genes in “double-cortex”-like malformation with a possible role of rare variants in recessive genes as pathogenic cofactors. PMID:29946244

Medicolegal issues in multiple pregnancy.

PubMed

Gersell, Deborah J

2007-02-01

Any discussion of multiple pregnancy figures prominently in the consideration of the medicolegal aspects of placental pathology. Multiple gestations are common and becoming more so with assisted reproductive techniques, and multiples are associated with a disproportionate share of complications that may result in disputes over quality of care. Higher rates of intrauterine growth retardation, prematurity, stillbirth, morbidity, mortality, cerebral palsy, anomalous development, and malformation as compared with singletons are well documented in multiple pregnancy and should be anticipated. Monochorionic placentation and complications of vascular anastomosis are important factors contributing to poor outcome. Other factors, although occurring in all gestations, are relevant because they are more common in multiple gestations.

[Acromegaly and pregnancy: report of six new cases].

PubMed

Persechini, M-L; Gennero, I; Grunenwald, S; Vezzosi, D; Bennet, A; Caron, P

2014-11-01

Pregnancies in acromegalic women are rare. Data from the literature indicate absence of congenital malformation in newborns, an increase of pituitary adenoma volume rarely clinically symptomatic, an increased risk of gestational diabetes and gravid hypertension in women with non-controlled GH/IGF-1 hypersecretion before gestation. The changes of somatotroph function are rarely described. Report of six new pregnancies in five women with acromegaly. Before pregnancy three women had incomplete surgical resection of GH-secreting pituitary adenoma, all were treated with somatostatin analogues, and the medical treatment was withdrawal at the diagnosis of gestation. We studied clinical (blood pressure, headaches, visual field), biological (blood glucose concentration) signs, GH and IGF-1 levels were measured during each trimester of pregnancy as well as in post-partum and were compared with pregestational values, MRI of the pituitary performed during the second trimester and in the post-partum were compared with MRI examen before pregnancy. All those pregnancies were normal without gestational diabetes, gravid hypertension and pituitary tumor syndrome. Clinical signs of acromegaly improved in 50 % of the patients, and IGF-1 decreased (22 %) in comparison of pregestational value without significant change in GH levels. No newborn had congenital malformation. Pregnancies in those women with acromegaly are uneventful without obstetrical or foetal complication, but a maternal follow-up is necessary in order to diagnose gravid hypertension and gestational diabetes. On the other hand, a clinical monitoring of pituitary tumor syndrome is necessary in women with non-operated GH-secreting macroadenoma before pregnancy. During the first trimester of gestation, an improvement of acromegalic signs can be due to a decrease of IGF-1 levels related to hepatic GH-resistance state secondary to physiological secretion of estrogens during gestation. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Congenital Hypogonadotropic Hypogonadism during Childhood: Presentation and Genetic Analyses in 46 Boys

PubMed Central

Vizeneux, Audrey; Hilfiger, Aude; Bouligand, Jérôme; Pouillot, Monique; Brailly-Tabard, Sylvie; Bashamboo, Anu; McElreavey, Ken; Brauner, Raja

2013-01-01

Background The majority of the patients reported with mutations in isolated hypogonadotropic hypogonadism (HH) are adults. We analysed the presentation and the plasma inhibin B and anti-müllerian hormone (AMH) concentrations during childhood and adolescence, and compared them to the genetic results. Methods This was a retrospective, single-center study of 46 boys with HH. Results Fourteen (30.4%) had Kallmann syndrome (KS), 4 (8.7%) had CHARGE syndrome and 28 (60.9%) had HH without olfaction deficit nor olfactive bulb hypoplasia. Eighteen (39%) had an associated malformation or syndromes. At diagnosis, 22 (47.8%) boys were aged

Prenatal diagnosis of left isomerism with normal heart: a case report

PubMed Central

De Paola, Nico; Ermito, Santina; Nahom, Antonella; Dinatale, Angela; Pappalardo, Elisa Maria; Carrara, Sabina; Cavaliere, Alessandro; Brizzi, Cristiana

2009-01-01

Objective: Left isomerism, also called polysplenia, is a laterality disturbance associated with with paired leftsidedness viscera and multiple small spleens. Left isomerism, heart congenital abnormalities and gastrointestinal malformation are strongly associated. Methods: We present a case of prenatal diagnosis of left isomerism in a fetus with a structurally normal heart. Conclusion: Left isomerism syndrone may coesist with a structurally normal heart. If prenatal left isomerism is suspected, even in presence of a normal heart, is mandatory to esclude sign of gastrointestinal abnormalities, as late poly hy dramnios, and cardiac rhytm disturbance during the pregnancy and neonatal age. PMID:22439041

Familial polythelia over three generations with polymastia in the youngest girl.

PubMed

Galli-Tsinopoulou, A; Krohn, C; Schmidt, H

2001-06-01

Supernumerary nipples or polythelia are developmental abnormalities located along the embryonic mammary lines. It is the most common form of accessory breast tissue malformation and usually occurs sporadically but familial aggregation has been reported. Polythelia has been reported in association with congenital malformations, in particular with renal anomalies. Polymastia in female patients has been reported to manifest usually during pregnancy or lactation. We report on a pedigree with six cases of polythelia over three generations and one case of polythelia and polymastia in the youngest member of this family. The girl (11 years old ) had in addition to six supernumerary nipples, an accessory breast gland located under the normal left breast. No other congenital malformations could be detected. This girl will remain under follow-up until the end of puberty when the accessory breast gland will be removed. Manifestation of polymastia during puberty rarely has been reported. Polymastia may appear with familial polythelia even without renal anomalies.

Molecular genetics in fetal neurology.

PubMed

Huang, Jin; Wah, Isabella Y M; Pooh, Ritsuko K; Choy, Kwong Wai

2012-12-01

Brain malformations, particularly related to early brain development, are a clinically and genetically heterogeneous group of fetal neurological disorders. Fetal cerebral malformation, predominantly of impaired prosencephalic development namely agenesis of the corpus callosum and septo-optic dysplasia, is the main pathological feature in fetus, and causes prominent neurodevelopmental retardation, and associated with congenital facial anomalies and visual disorders. Differential diagnosis of brain malformations can be extremely difficult even through magnetic resonance imaging. Advances in genomic and molecular genetics technologies have led to the identification of the sonic hedgehog pathways and genes critical to the normal brain development. Molecular cytogenetic and genetic studies have identified numeric and structural chromosomal abnormalities as well as mutations in genes important for the etiology of fetal neurological disorders. In this review, we update the molecular genetics findings of three common fetal neurological abnormalities, holoprosencephaly, lissencephaly and agenesis of the corpus callosum, in an attempt to assist in perinatal and prenatal diagnosis. Copyright © 2012 Elsevier Ltd. All rights reserved.

Transarterial Coil-Augmented Onyx Embolization for Brain Arteriovenous Malformation

PubMed Central

Gao, Xu; Liang, Guobiao; Li, Zhiqing; Wang, Xiaogang; Yu, Chunyong; Cao, Peng; Chen, Jun; Li, Jingyuan

2014-01-01

Summary Onyx has been widely adopted for the treatment of arteriovenous malformations (AVMs). However, its control demands operators accumulate a considerable learning curve. We describe our initial experience using a novel injection method for the embolization of AVMs. We retrospectively reviewed the data of all 22 patients with brain AVMs (12 men, 10 women; age range, 12-68 years; mean age, 43.2 years) treated by the transarterial coil-augmented Onyx injection technique. The size of the AVMs ranged from 25 mm to 70 mm (average 35.6 mm). The technical feasibility of the procedure, procedure-related complications, angiographic results, and clinical outcome were evaluated. In every case, endovascular treatment (EVT) was completed. A total of 31 sessions were performed, with a mean injection volume of 6.1 mL (range, 1.5-16.0 mL). An average of 96.7% (range 85%-100%) estimated size reduction was achieved, and 18 AVMs could be completely excluded by EVT alone. The results remained stable on follow-up angiograms. A procedural complication occurred in one patient, with permanent mild neurologic deficit. Our preliminary series demonstrated that the coil-augmented Onyx injection technique is a valuable adjunct achieving excellent nidal penetration and improving the safety of the procedure. PMID:24556304

MINOR MALFORMATIONS AND PHYSICAL MEASURES IN AUTISM: DATA FROM NOVA SCOTIA. (R824758)

EPA Science Inventory

In the context of an epidemiological study of autism in Nova Scotia, subjects were evaluated for minor physical anomalies and physical measurements. Normal control children, children with autism and their siblings, and children with developmental disabilities and their siblings w...

Environmental enrichment normalizes hippocampal timing coding in a malformed hippocampus.

PubMed

Hernan, Amanda E; Mahoney, J Matthew; Curry, Willie; Richard, Greg; Lucas, Marcella M; Massey, Andrew; Holmes, Gregory L; Scott, Rod C

2018-01-01

Neurodevelopmental insults leading to malformations of cortical development (MCD) are a common cause of psychiatric disorders, learning impairments and epilepsy. In the methylazoxymethanol (MAM) model of MCDs, animals have impairments in spatial cognition that, remarkably, are improved by post-weaning environmental enrichment (EE). To establish how EE impacts network-level mechanisms of spatial cognition, hippocampal in vivo single unit recordings were performed in freely moving animals in an open arena. We took a generalized linear modeling approach to extract fine spike timing (FST) characteristics and related these to place cell fidelity used as a surrogate of spatial cognition. We find that MAM disrupts FST and place-modulated rate coding in hippocampal CA1 and that EE improves many FST parameters towards normal. Moreover, FST parameters predict spatial coherence of neurons, suggesting that mechanisms determining altered FST are responsible for impaired cognition in MCDs. This suggests that FST parameters could represent a therapeutic target to improve cognition even in the context of a brain that develops with a structural abnormality.

Minor physical anomalies are more common among the first-degree unaffected relatives of schizophrenia patients - Results with the Méhes Scale.

PubMed

Hajnal, András; Csábi, Györgyi; Herold, Róbert; Jeges, Sára; Halmai, Tamás; Trixler, Dániel; Simon, Maria; Tóth, Ákos Levente; Tényi, Tamás

2016-03-30

Minor physical anomalies are external markers of abnormal brain development,so the more common appearance of these signs among the relatives of schizophrenia patients can confirm minor physical anomalies as intermediate phenotypes. The aim of the present study was to investigate the rate and topological profile of minor physical anomalies in the first-degree unaffected relatives of patients with schizophrenia compared to matched normal control subjects. Using a list of 57 minor physical anomalies (the Méhes Scale), 20 relatives of patients with the diagnosis of schizophrenia and as a comparison 20 matched normal control subjects were examined. Minor physical anomalies were more common in the head and mouth regions among the relatives of schizophrenia patients compared to normal controls. By the differentiation of minor malformations and phenogenetic variants, we have found that only phenogenetic variants were more common in the relatives of schizophrenia patients compared to the control group, however individual analyses showed, that one minor malformation (flat forehead) was more prevalent in the relative group. The results can promote the concept, that minor physical anomalies can be endophenotypic markers of the illness. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

[Relationship of Ghrelin gene polymorphism with congenital anorectal malformation and Hirschsprung disease].

PubMed

Gao, Hong; Wang, Dajia; Zhao, Xiangxuan; Mi, Jie; Bai, Yuzuo; Wang, Weilin

2015-07-01

To explore the relationship of Ghrelin gene polymorphism with the occurrence of human anorectal malformations (ARMs) and Hirschsprung disease(HSCR). PCR and DNA sequencing were used to detect the single nucleotide polymorphism (SNPs) of 3 loci (rs139684563, rs149447194, rs186599567) genotype of Ghrelin gene in 100 children with ARMs, 100 children with HSCR, and 100 healthy children (normal group). Genovariation and gene mutation were analyzed with case-control method. Three loci SNPs were in accordance with Hardy-Weinberg genetic equilibrium. No significant differences were found in rs139684563 allele and genotype frequencies between the cases and the normal groups (P>0.05). The allele and genotype frequencies of rs149447194 and rs186599567 were significantly different between cases and normal group (P<0.05). DNA sequencing results showed that wild-type homozygous deletion (176th and 191th base A deletion, respectively) were found in rs149447194 and rs186599567of ARMs and HSCR children, and single base substitution was detected in rs149447194 of ARMs children (194th codon nucleotide CCT to CTC). The rs149447194 and the rs186599567 polymorphism changes may be associated with the pathogenesis of ARMs and HSCR.

Kimura's Disease without Peripheral Eosinophilia: An Unusual and Challenging Case Simulating Venous Malformation on Imaging Studies-Case Report and Review of literature.

PubMed

Dokania, Vivek; Patil, Digvijay; Agarwal, Ketan; Thakur, Prajakta; Prajapati, Piyush

2017-06-01

Kimura's Disease (KD) is a rare chronic inflammatory disorder presenting as multiple painless solitary subcutaneous nodules, predominantly in the head and neck region and frequently associated with regional lymphadenopathy and/or salivary gland involvement. Because of painless nature and indolent course, there is usually a delay in the patient's presentation. KD may radiologically mimic other chronic inflammatory conditions like tuberculosis, vascular malformations and neoplasms. Clinical correlation and histological evaluation along with elevated peripheral eosinophil and serum IgE level are considered important for confirmatory diagnosis. We report a case of painless swelling over right submandibular region extending to the right superficial parotid. The haematological reports were within normal limits. Ultrasound (USG), Magnetic Resonance Imaging (MRI) and Magnetic Resonance Angiogram (MRA) favoured a diagnosis of venous malformation. However, histopathological examination of excised lesion confirmed a diagnosis of KD. This case proves the possibility of the KD even in the absence of peripheral eosinophilia and/ or elevated serum IgE level, and may mimic venous malformation on imaging studies. Therefore, KD must find a place in the differentials of solitary painless neck swelling even in the absence of peripheral eosinophilia and/or elevated IgE level.

Histopathological features of Proteus syndrome.

PubMed

Hoey, S E H; Eastwood, D; Monsell, F; Kangesu, L; Harper, J I; Sebire, N J

2008-05-01

Proteus syndrome is a rare, sporadic overgrowth disorder for which the underlying genetic defect remains unknown. Although the clinical course is well-described there is no systematic histopathological description of the lesional pathology. To describe the histopathological features encountered in a series of patients with Proteus syndrome from a single centre. Patients with Proteus syndrome who had undergone therapeutic surgical resection or biopsy were identified from a database and the histopathological findings were reviewed, with particular regard to descriptive features of the underlying tissue abnormality. There were 18 surgical specimens from nine patients, median age 4 years (range 1-9), classified into four main categories: soft-tissue swellings (lipomatous lesions), vascular anomalies (vascular malformation and haemangioma), macrodactyly (hamartomatous overgrowth) and others (sebaceous naevus and nonspecific features). In all cases, the clinical features of overgrowth were due to increased amounts of disorganized tissue, indicating a hamartomatous-type defect in which normal tissue constituents were present, but with an abnormal distribution and architecture. Vascular malformations represented a prominent category of lesions, accounting for 50% of the specimens, predominantly comprising lymphatic and lymphovascular malformations. No malignancy or cytological atypia was identified in any case. The histopathological features of lesions resected from children with Proteus syndrome predominantly include hamartomatous mixed connective tissue lesions, benign neoplasms such as lipomata, and lymphatic-rich vascular malformations.

Modern radiosurgical and endovascular classification schemes for brain arteriovenous malformations.

PubMed

Tayebi Meybodi, Ali; Lawton, Michael T

2018-05-04

Stereotactic radiosurgery (SRS) and endovascular techniques are commonly used for treating brain arteriovenous malformations (bAVMs). They are usually used as ancillary techniques to microsurgery but may also be used as solitary treatment options. Careful patient selection requires a clear estimate of the treatment efficacy and complication rates for the individual patient. As such, classification schemes are an essential part of patient selection paradigm for each treatment modality. While the Spetzler-Martin grading system and its subsequent modifications are commonly used for microsurgical outcome prediction for bAVMs, the same system(s) may not be easily applicable to SRS and endovascular therapy. Several radiosurgical- and endovascular-based grading scales have been proposed for bAVMs. However, a comprehensive review of these systems including a discussion on their relative advantages and disadvantages is missing. This paper is dedicated to modern classification schemes designed for SRS and endovascular techniques.

[Congenital abnormalities of the aorta in children and adolescents].

PubMed

Eichhorn, J G; Ley, S

2007-11-01

Aortic abnormalities are common cardiovascular malformations accounting for 15-20% of all congenital heart disease. Ultrafast CT and MR imaging are noninvasive, accurate and robust techniques that can be used in the diagnosis of aortic malformations. While their sensitivity in detecting vascular abnormalities seems to be as good as that of conventional catheter angiocardiography, at over 90%, they are superior in the diagnosis of potentially life-threatening complications, such as tracheal, bronchial, or esophageal compression. It has been shown that more than 80% of small children with aortic abnormalities benefit directly from the use of noninvasive imaging: either cardiac catheterization is no longer necessary or radiation doses and periods of general anesthesia for interventional catheterization procedures can be much reduced. The most important congenital abnormalities of the aorta in children and adolescents are presented with reference to examples, and the value of CT and MR angiography is documented.

Intralesional copper wire retention and pingyangmycin injection: an effective combinational therapy for complex venous malformation in soft tissue.

PubMed

Yuan, S-M; Hong, Z-J; Jiang, H-Q; Wang, J; Hu, X-B

2014-04-01

Complex venous malformations (VMs) may extensively involve the soft tissue. The treatment remains a challenge till now. Here we introduce a combinational therapy of copper wires and pingyangmycin (bleomycin A5,PYM). Copper wires were retained in VMs by repeated penetration with a straight needle. Subsequently, PYM solution was injected into the lesion. Eight to 10 days later, copper wires were removed. The dressing was changed every day until the puncture pores healed. Magnetic resonance imaging scanning was performed to observe the change of VMs. From January 2001 to December 2011, 56 patients were treated. During the follow-up period, most of the VMs shrunk obviously. The symptoms were relieved or disappeared. The complications included local pain, temporary paraesthesia and moderate fever, which disappeared quickly after the removal of copper wires. This combinational therapy is a safe and effective approach for the complex VMs in soft tissue.

Computed tomography and magnetic resonance imaging of multiple focal nodular hyperplasias of the liver with congenital absence of the portal vein in a Chinese girl: case report and review of the literature.

PubMed

Zhang, Kun; Wang, Qingjun; Wang, Haiyi; Ye, Huiyi; Guo, Aitao; Duan, Weidong

2014-11-26

Patients with congenital absence of the portal vein (CAPV) often suffer from additional medical complications such as hepatic tumors and cardiac malformations. Congenital absence of the portal vein (CAPV) is a rare malformation. We present a case of a 16-year-old Chinese girl with CAPV with multiple pathology-proven hepatic focal nodular hyperplasias (FNHs) and ventricular septal defect (VSD). The CT and MRI features of this case are described, and previously reported cases are reviewed. CAPV is a rare congenital anomaly and in such patients, clarifying the site of portosystemic shunts, liver disease, and other anomalies is critical for appropriate treatment selection and accurate prognosis determination. Close follow-up, including laboratory testing and radiologic imaging, is recommended for all CAPV patients.

[Preliminary results in the correction of the pectus excavatum with the Acastello modified Welch technique].

PubMed

Lorenzo, G R; Gutiérrez Dueñas, J M; Ardela, E; Martín Pinto, F

2011-10-01

Congenital malformations of the chest wall are a heterogeneous group of diseases affecting the costal cartilage, ribs, sternum, scapula and clavicle. The pectus excavatum is characterized by a posterior depression of the sternum. Acastello-Welch technique consists in a partial resection of the costal cartilages adding some bars or plates unilaterally fixed to the sternum in each hemithorax. From October 2008 to March 2011 we evaluated 108 patients with congenital malformations of the chest wall. Forty-seven patients (44%) had a pectus excavatum and 12 were treated with Acastello-Welch technique. There were no intraoperative complications. After a mean follow up of 27 months, correction of the deformity was very satisfactory both objective and subjective for patients. The Welch thoracoplasty modified by Acastello is a good option for the correction of the pectus excavatum associating little morbidity and good esthetic outcomes.

[A vertebral arteriovenous fistula diagnosed by auscultation].

PubMed

Iglesias Escalera, G; Diaz-Delgado Peñas, R; Carrasco Marina, M Ll; Maraña Perez, A; Ialeggio, D

2015-01-01

Cervical artery fistulas are rare arteriovenous malformations. The etiology of the vertebral arteriovenous fistulas (AVF) can be traumatic or spontaneous. They tend to be asymptomatic or palpation or continuous vibration in the cervical region. An arteriography is necessary for a definitive diagnosis. The treatment is complete embolization of the fistula. We present the case of a two year-old male, where the mother described it «like a washing machine in his head». On palpation during the physical examination, there was a continuous vibration, and a continuous murmur in left cervical region. A vascular malformation in vertebral region was clinically suspected, and confirmed with angio-MRI and arteriography. AVF are rare in childhood. They should be suspected in the presence of noises, palpation or continuous vibration in the cervical region. Early diagnosis can prevent severe complications in asymptomatic children. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

[The current approach to hemangiomas and vascular malformations of the head and neck].

PubMed

Raveh, E; Waner, M; Kornreich, L; Segal, K; Ben-Amitai, D; Kalish, E; Lapidot, M; Mimon, S; Shalev, B; Feinmesser, R

2002-09-01

Though most hemangiomas do not need treatment, a significant minority are associated with complications and external deformities that demand intervention. Steroids play an important role in therapy, but not infrequently afford only partial and temporary benefit. Thanks to improvements in the surgical approach and equipment, hemostasis control devices and laser techniques, we can now treat patients who would otherwise go untreated. Moreover, in certain cases, we can now recommend earlier intervention, saving patients from years of living with deformities and the concomitant psychosocial problems. Vascular anomalies of the head and neck include venular, venous and arteriovenous malformations. These lesions are slow growing vascular ectasia that never involute spontaneously and almost always require intervention. Treatment includes laser therapy, injection of sclerosing agents, embolization through angiography and surgery, which in many cases is the only definitive treatment. We present the current treatment approach and describe our experience in the treatment of 16 patients.

Long-term follow-up of patients after antegrade continence enema procedure.

PubMed

Siddiqui, Anees A; Fishman, Steven J; Bauer, Stuart B; Nurko, Samuel

2011-05-01

Antegrade continence enema (ACE) has become an important therapeutic modality in the treatment of intractable constipation and fecal incontinence. There are little data available on the long-term performance of the ACE procedure in children. A retrospective review of patients who underwent the ACE procedure was conducted. Irrigation characteristics and complications were noted. Outcome was assessed for individual encounters based on frequency of bowel movements, incontinence, pain, and predictability. One hundred seventeen patients underwent an ACE. One hundred five patients had at least 6 months of follow-up, and were included in the analysis. Diagnoses included myelodysplasia (39%), functional intractable constipation (26%), anorectal malformations (21%), nonrelaxing internal anal sphincter (7%), cerebral palsy (3%), and other diagnoses (4%). The average follow-up was 68 months (range 7-178 months). At the last follow-up, 69% of patients had successful bowel management. Of the 31% of patients who did not have successful bowel management, 20% were using the ACE despite suboptimal results, 10% required surgical removal, and 2% were not using the ACE because of behavioral opposition to it. Patients were started on normal saline, but were switched to GoLYTELY (PEG-3350 and electrolyte solution) if there was an inadequate response (61% at final encounter). Additives were needed in 34% of patients. The average irrigation dose was 23 ± 0.7 mL/kg. The average toilet sitting time was 51.7 ± 3.5 minutes, with infusions running for 12.1 ± 1.2 minutes. Stomal complications occurred in 63% (infection, leakage, and stenosis) of patients, 33% required surgical revision and 6% eventually required diverting ostomies. Long-term use of the ACE gives successful results in 69% of patients, whereas 63% had a stoma-related complication and 33% required surgical revision of the stoma.

Malformations detected by abdominal ultrasound in children with congenital heart disease.

PubMed

Rosa, Rosana Cardoso Manique; Rosa, Rafael Fabiano Machado; Flores, José Antônio Monteiro; Golendziner, Eliete; Oliveira, Ceres Andréia Vieira de; Varella-Garcia, Marileila; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo Gazzola

2012-12-01

Extracardiac malformations may be present in patients with congenital heart disease (CHD), bringing greater risk of comorbidity and mortality. Verify frequency and types of abdominal abnormalities detected in children with and without CHD through abdominal ultrasound (AUS), compare the patients in relation to their dysmorphic/cytogenetic findings and perform an estimative of the cost-effectiveness of the screening through AUS. We conducted a cross-sectional study with a control cohort. The cases consisted of patients with CHD admitted for the first time in a pediatric intensive care unit; the controls consisted of children without CHD who underwent AUS at the hospital shortly thereafter a case. All patients with CHD underwent AUS, high-resolution karyotype and fluorescence in situ hybridization (FISH) for microdeletion 22q11.2. AUS identified clinically significant abnormalities in 12.2% of the cases and 5.2% of controls (p= 0.009), with a power of significance of 76.6%. Most malformations with clinical significance were renal anomalies (10.4% in cases and 4.9% in controls; p= 0.034). In Brazil, the cost of an AUS examination for the Unified Health System is US$ 21. Since clinically significant abnormalities were observed in one in every 8.2 CHD patients, the cost to identify an affected child was calculated as approximately US$ 176. Patients with CHD present a significant frequency of abdominal abnormalities detected by AUS, an inexpensive and noninvasive diagnostic method with good sensitivity. The cost of screening for these defects is considerably lower than the cost to treat the complications of late diagnoses of abdominal malformations such as renal disease.

Staged corrective surgery for complex congenital scoliosis and split cord malformation

PubMed Central

Asad, Ambreen; Pasha, Ibrahim Farooq; Malik, Arslan Sharif; Arlet, Vincent

2009-01-01

Congenital scoliosis associated with split cord malformation raises the issue on how to best manage these patients to avoid neurologic injury while achieving satisfactory correction. We present the case of a 12-year-old girl who first presented when she was 11-year old with such combination but without much physical handicap or neurological deficit. The corrective surgery offered at that time was refused by the family. She again presented after 1 year with documented severe aggravation of the curve resulting in unstable walking and psychological upset. Her imaging studies showed multiple malformations in lower cervical and thoracic spine and a split cord malformation type 2 (fibrous septum with diplomyelia) at the apex of the deformity. A one-stage correction was deemed neurologically too risky. We therefore performed during a first stage a thoracotomy with anterior release. This was followed by skeletal traction with skull tongs and bilateral femoral pins. After gradual increase in traction weights a reasonable correction was achieved without any neurological deficit, over the next 10 days. A second-stage operation was done on the 11th day and a posterior instrumented fusion was performed. Post-operative recovery was uneventful and there were no complications. She was discharged with a Boston Brace to be worn for 3 months. At 2-year follow-up the patient outcome is excellent with excellent balance and correction of the deformity. In this grand round case, we discuss all the different option of treatment of congenital scoliosis associated with split cord malformation. In a medical environment where spinal cord monitoring is lacking, we recommend an initial release followed by skull and bifemoral traction over several days to monitor the neurologic status of the patient. Once optimal correction is achieved with the traction, a posterior instrumentation can be safely done. PMID:19626347

Uniparental disomy and prenatal phenotype

PubMed Central

Li, Xiaofei; Liu, Yan; Yue, Song; Wang, Li; Zhang, Tiejuan; Guo, Cuixia; Hu, Wenjie; Kagan, Karl-Oliver; Wu, Qingqing

2017-01-01

Abstract Rationale: Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. Patient concerns: We report prenatal phenotypes of 2 rare cases of UPD. Diagnoses: The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal bone, short femur and humerus length, and several structural malformations involving Dandy–Walker malformation and congenital heart defects. The prenatal phenotype of Case 2 are sonographic markers, including enlarged NT, thickened nuchal fold, ascites, and polyhydramnios without apparent structural malformations. Interventions: Conventional G-band karyotype appears normal in case 1, while it shows normal chromosomes with a small supernumerary marker chromosome (sSMC) in case 2. Genetic etiology was left unknown until single-nucleotide polymorphism-based array (SNP-array) was performed, and segmental paternal UPD 22 was identified in case 1 and segmental paternal UPD 14 was found in case 2. Outcomes: The parents of case 1 chose termination of pregnancy. The neonate of case 2 was born prematurely with a bellshaped small thorax and died within a day. Lessons: UPD cases are rare and the phenotypes are different, which depend on the origin and affected chromosomal part. If a fetus shows multiple anomalies that cannot be attributed to a common aneuploidy or a genetic syndrome, or manifests some features possibly related to an UPD syndrome, such as detection of sSMC, SNP-array should be considered. PMID:29137034

Uniparental disomy and prenatal phenotype: Two case reports and review.

PubMed

Li, Xiaofei; Liu, Yan; Yue, Song; Wang, Li; Zhang, Tiejuan; Guo, Cuixia; Hu, Wenjie; Kagan, Karl-Oliver; Wu, Qingqing

2017-11-01

Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. We report prenatal phenotypes of 2 rare cases of UPD. The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal bone, short femur and humerus length, and several structural malformations involving Dandy-Walker malformation and congenital heart defects. The prenatal phenotype of Case 2 are sonographic markers, including enlarged NT, thickened nuchal fold, ascites, and polyhydramnios without apparent structural malformations. Conventional G-band karyotype appears normal in case 1, while it shows normal chromosomes with a small supernumerary marker chromosome (sSMC) in case 2. Genetic etiology was left unknown until single-nucleotide polymorphism-based array (SNP-array) was performed, and segmental paternal UPD 22 was identified in case 1 and segmental paternal UPD 14 was found in case 2. The parents of case 1 chose termination of pregnancy. The neonate of case 2 was born prematurely with a bellshaped small thorax and died within a day. UPD cases are rare and the phenotypes are different, which depend on the origin and affected chromosomal part. If a fetus shows multiple anomalies that cannot be attributed to a common aneuploidy or a genetic syndrome, or manifests some features possibly related to an UPD syndrome, such as detection of sSMC, SNP-array should be considered.

Outcomes of fetuses with small head circumference on second-trimester ultrasonography.

PubMed

Deloison, Benjamin; Chalouhi, Gihad E; Bernard, Jean-Pierre; Ville, Yves; Salomon, Laurent J

2012-09-01

We examined the outcomes of pregnancies in which the fetal head circumference (HC) was below the 5(th) centile at the routine second-trimester scan. We retrospectively analysed outcomes of 18,377 women according to HC Z scores at second-trimester ultrasound examination between 2001 and 2008. We collected all major malformations, intrauterine deaths and other abnormal outcomes. Six hundred seventy-four fetuses (3.7%) had an HC below the 5(th) centile. Twenty-one major malformations were noted, consisting mainly of neurological abnormalities (3.1%). There were seven intra uterine fetal death (1.3%). Of all the fetuses, 26% were lost to follow-up. Outcome and neurological development was normal in 467 cases, based on neonatal examination and/or parent or general practitioner reports. Major abnormalities were noted in respectively 26.2%, 3.0% and 1.1% of fetuses with Z scores < -2.5, -2.5 to -2.0, and -2 to -1.645, compared with 0.3% of fetuses with normal HC (p < 10(-4)). A head circumference below the 5(th) centile at second-trimester scan is associated with various abnormalities, especially neurological disorders. The outcome was worse when the HC was smaller. An HC Z score below -2.5 was strongly associated with neurological and chromosomal abnormalities. Conversely, an HC Z score below -1.645 but above -2, excluding cases with prenatally diagnosed malformations, seems to be reassuring for favorable neonatal outcome. © 2012 John Wiley & Sons, Ltd.

Effects of cyanobacterial biomass and purified microcystins on malformations in Xenopus laevis: teratogenesis assay (FETAX).

PubMed

Dvoráková, Dagmar; Dvoráková, Katerina; Bláha, Ludek; Marsálek, Blahoslav; Knotková, Zora

2002-12-01

Xenopus laevis (African clawed frog) embryos in a 96-h teratogenesis assay (FETAX) were exposed to 0-250 microg/L and 500 microg/L of purified microcystin-LR (MCYST-LR) for the estimation of lethality, as well as to equivalent concentrations of biomass containing MCYST-LR (natural water bloom dominated by Microcystis aeruginosa) and biomass without MCYST-LR (bloom dominated by Microcystis wesenbergii). The highest tested concentrations of purified MCYST-LR caused up to 30% lethality after a 96-h exposure, corresponding to a LC(25) of 380 microg/L. Cyanobacterial biomass containing MCYST-LR caused significant lethality up to 50% at the highest tested concentrations (300 mg/L, i.e., 250 microg/L of MCYST-LR). The estimated 96-h LC(25) values varied from 125 mg/L (biomass containing MCYST-LR) up to 232 mg/L (biomass without MCYST-LR). A statistically significant increase in the number of malformed embryos was observed after exposure to cyanobacterial samples. Purified MCYST-LR at and above 25 microg/L significantly increased the number of malformations, with 53% of surviving embryos malformed in the highest tested concentration, 250 microg/L (EC(25) = 27 microg/L). Exposure to the highest concentration of MCYST-LR containing biomass resulted in more than 60% of the embryos being malformed and an EC(25) of 52 mg/L (i.e., 43 microg of MCYST-LR/L). Cyanobacterial biomass with no natural microcystin also induced substantial malformations-about 50% aberrant embryos at the highest concentration, 300 mg/L (EC(25) = 75 mg/L). External additions of purified MCYST-LR to the biomass that was originally without microcystins resulted in a slight additional increase in the rate of malformations (80% at the highest concentration, 300 mg of biomass plus 250 microg of MCYST-LR per liter). A comparison of lethality and effects on malformations (teratogenic index, TI = LC(25)/EC(25)) showed that all samples had significant teratogenic potential in the FETAX assay (TI(MCYST-LR) = 14; TI for biomass with and without microcystin ranged between 2.4 and 3.1, respectively). We conclude that cyanobacterial water blooms can significantly alter the normal development of amphibian embryos. Copyright 2002 Wiley Periodicals, Inc.

Delayed Retroclival and Cervical Spinal Subdural Hematoma Complicated by Preexisting Chiari Malformation in Adult Trauma Patient.

PubMed

Nguyen, Ha Son; Choi, Hoon; Kurpad, Shekar; Soliman, Hesham

2017-09-01

Traumatic spinal subdural hematoma involving the retroclival region and upper cervical spine is a rare pathology. To our knowledge, there have only been 2 prior cases in an adult trauma patient. We describe a patient with preexisting Chiari 1 malformation, who recently sustained a unilateral type 1 occipital condyle fracture with associated disruption of the tectorial membrane and transverse ligament, which returned with a retroclival subdural hematoma extending down to C7, causing spinal cord compression and symptomatic obstructive hydrocephalus. A 30-year-old female sustained a motor vehicle collision. Computed tomography C spine revealed a type I occipital condyle fracture. Magnetic resonance imaging C spine demonstrated disruption of the tectorial membrane and avulsion of the transverse ligament at its attachment to the left C1 tubercle; moreover, there was a Chiari 1 malformation. The patient was neurologically intact. A halo was recommended, but the patient opted for an aspen collar with close management. She was discharged but returned 3 days later with apneic episodes, along with bradycardia and hypertension. She was promptly intubated. Computed tomography head showed interval ventricular enlargement. Magnetic resonance imaging C spine revealed a new ventral hematoma spanning the retroclival region to C7, most pronounced at C2-C3. On examination, she opened her eyes to pain, her pupils were equal and reactive, and she withdrew in all extremities. An external ventricular drain was emergently placed. She underwent a suboccipital craniectomy, C1-3 laminectomies, and occiput-C4 instrumented fusion. The dura was significantly tense, and no epidural hematoma was observed during lateral exploration. Postoperatively, she woke up well, exhibiting a nonfocal neurologic examination. A diagnostic angiogram was negative. She was extubated uneventfully, and the external ventricular drain was weaned off in 4 days. Traumatic spinal subdural hematoma involving both the retroclival region and upper cervical spine can lead to bulbar signs and symptomatic obstructive hydrocephalus. There should be vigilance for this pathology in patients with high-energy craniocervical trauma. Disruption of the tectorial membrane and therapeutic anticoagulation may be risk factors. The clinical scenario can be complicated in the setting of a preexisting Chiari 1 malformation. Copyright © 2017 Elsevier Inc. All rights reserved.

Bilateral Sequential Cochlear Implantation in Patients With Enlarged Vestibular Aqueduct (EVA) Syndrome.

PubMed

Manzoor, Nauman F; Wick, Cameron C; Wahba, Marian; Gupta, Amit; Piper, Robin; Murray, Gail S; Otteson, Todd; Megerian, Cliff A; Semaan, Maroun T

2016-02-01

To analyze audiometric outcomes after bilateral cochlear implantation in patients with isolated enlarged vestibular aqueduct (EVA) syndrome and associated incomplete partition (IP) malformations. Secondary objective was to analyze rate of cerebrospinal fluid (CSF) gusher in patients with IP-EVA spectrum deformities and compare this with the existing literature. Retrospective chart review. Thirty-two patients with EVA syndrome who received unilateral or bilateral cochlear implants between June 1999 and January 2014 were identified in the University Hospitals Case Medical Center cochlear implant database. Isolated EVA (IEVA) and Incomplete Partition Type II (IP-II) malformations were identified by reviewing high-resolution computed tomography (HRCT) imaging. Demographic information, age at implantation, surgical details, postimplantation audiometric data including speech reception thresholds (SRT), word, and sentence scores were reviewed and analyzed. Intra- and postoperative complications were analyzed as well and compared with the literature. Seventeen patients (32 implanted ears) had pediatric cochlear implantation for EVA-associated hearing loss. Data from 16 controls (32 implanted ears) were used to compare audiometric and speech outcomes of EVA cohort. Mean age at implantation was 6.8 years for EVA cohort and 6.0 years for controls. There was no statistically significant difference in long-term postoperative SRT, monaurally aided word scores, and binaurally tested word scores between pediatric EVA group and controls. The EVA patients had a long-term mean sentence score of 85.92%. A subset of EVA patients implanted at mean age of 3.18 years (n = 15 ears) had similar audiometric outcomes to another control group with Connexin 26 mutations (n = 20 ears) implanted at a similar age. Further subset analysis revealed no significant differences in age at implantation, SRT, and word scores in patients with IEVA and IP-II malformation. There was no significant association between size of vestibular aqueduct and age at implantation. There was no CSF gusher or other intra- or postoperative complications reported in our series. Bilateral sequential cochlear implantation can be performed safely in patients with EVA. Audiometric outcomes are excellent and comparable to pediatric cochlear implant patients with no malformations. CSF gusher rates can be minimized by trans-round window approach. Further long-term studies are needed to identify differences within IP-EVA spectrum deformities, audiometric outcomes, and proportions of EVA patients who will need cochlear implantation for hearing rehabilitation.

Sclerotherapy for lymphatic malformations in children: a scoping review.

PubMed

Churchill, Paige; Otal, Damanjot; Pemberton, Julia; Ali, Abdullah; Flageole, Helene; Walton, J Mark

2011-05-01

This scoping review assesses the literature and summarizes the current evidence on sclerotherapy for the treatment of lymphatic malformations in pediatric patients. A comprehensive search of published and unpublished literature was conducted using multiple databases. Title, abstract, and full-text screening was conducted by 2 independent clinicians. All discrepancies were resolved during consensus meetings. A total of 182 articles were retrieved. Forty-four articles were removed as duplicates, and 11 articles were added after reviewing prominent studies. After full-text abstraction, 44 articles and 2 conference proceedings (N = 882 patients) were included in the final results. Twelve articles were classified as level II and 34 articles as level IV evidence. Picibanil (OK-432) was the primary agent used in most included studies. Postinjection symptoms with OK-432 were primarily fever, swelling, and erythema at the site. Life-threatening complications were uncommon and involved postinjection swelling of cervical lesions causing airway compromise. The literature regarding sclerotherapy for lymphatic malformations is of a low level of evidence and suffers from a lack of standardization. Randomized clinical trials focused on OK-432, bleomycin, or alcoholic solution of zein; standardized dosing protocols; and consistent and reliable outcome reporting will be necessary for further development of treatment guidelines. Copyright © 2011 Elsevier Inc. All rights reserved.

Retrofacial approach to access the round window for cochlear implantation of malformed ears.

PubMed

Rizk, Habib; O'Connell, Brendan; Stevens, Shawn; Meyer, Ted

2015-03-01

To report the use of the retrofacial approach for cochlear implantation in three cases of malformed ears with inaccessible round windows through the standard facial recess. Two children with bilateral profound sensorineural hearing loss who were cochlear implant candidates. One patient had bilateral sequential cochlear implantations and the other a unilateral implant. Retrofacial approach to access the posterior mesotympanum and visualize the round window. Ability to complete the surgery with full insertion of the implant and no complications such as facial nerve injury. We implanted three ears in two patients with multiple external and middle ear malformations with an aberrant facial nerve or a posteriorly displaced round window niche. The standard facial recess approach did not allow visualization of the round window. We resorted to a retrofacial approach to access the posterior mesotympanum and proceeded with the surgery through an anterior and inferior cochleostomy or through the round window. In cases with an aberrant facial nerve or inaccessible round window through the facial recess, the retrofacial approach is a good alternative but requires a certain level of expertise and familiarity with temporal bone anatomy. The decision to use an unconventional approach should be considered before surgery, but the ultimate decision may require intraoperative assessment.

Acardiac twin with externalized intestine adherent to placenta: unusual manifestation of omphalocele.

PubMed

Emery, Shawn Clark; Vaux, Keith K; Pretorius, Dolores; Masliah, Eliezer; Benirschke, Kurt

2004-01-01

TRAP (twin reversed arterial perfusion) syndrome produces an acardiac twin (acardiac monster, acardius, acardiacus, chorioangiopagus parasiticus, etc.). Acardiacs result from monozygotic multiple births in which three anatomic anomalies occur: (1) a fetus' cardiac development is disturbed; (2) artery-artery anastomosis carries blood from a normal ("pump") twin to the acardiac; (3) vein-vein anastomosis carries blood from the acardiac back to the normal twin. Whether reversal of blood flow in the acardiac results from or causes cardiac dysmorphogenesis has not been resolved. Acardiac twins demonstrate a complex constellation of malformations usually thought to result from reversed blood flow; omphalocele is particularly common. We report monochorionic monoamnionic male twins in which an acardiac twin demonstrated externalized intestines adherent to the placenta. The twins were delivered from a 30-year-old primigravida mother by cesarean section without maternal complications at 33 w. The mother has no significant past medical history. The macerated acardius had a 4-cm long attenuated umbilical cord with indeterminate number of vessels. Structures rostral to the thorax were absent save for one poorly developed hand and arm. The abdomen contained loose mesenchyme and no organs. The entire intestine (21 cm) along with two testes was located in a sac on the surface of the placenta. No histopathologic anomalies of formed structures were identified aside from spatial relationships and incomplete development. The normal twin required no intensive care and is doing well. To our knowledge, this is the first report of externalized intestine, which may represent an unusual consequence of omphalocele.

Site-Specific Differentiation of Fibroblasts in Normal and Scleroderma Skin

DTIC Science & Technology

2009-06-01

fibro- blasts, we were able to identify the genes involved in 6 out of 10 types of Ehlers – Danlos syndrome , a congenital disease characterized by skin...hand–- foot–genital syndrome , a disease char- acterized by syndactyly, hypospadias, and malformations of the urogenital system. These results indicate

Statistical methods for clinical verification of dose response parameters related to esophageal stricture and AVM obliteration from radiotherapy

NASA Astrophysics Data System (ADS)

Mavroidis, Panayiotis; Lind, Bengt K.; Theodorou, Kyriaki; Laurell, Göran; Fernberg, Jan-Olof; Lefkopoulos, Dimitrios; Kappas, Constantin; Brahme, Anders

2004-08-01

The purpose of this work is to provide some statistical methods for evaluating the predictive strength of radiobiological models and the validity of dose-response parameters for tumour control and normal tissue complications. This is accomplished by associating the expected complication rates, which are calculated using different models, with the clinical follow-up records. These methods are applied to 77 patients who received radiation treatment for head and neck cancer and 85 patients who were treated for arteriovenous malformation (AVM). The three-dimensional dose distribution delivered to esophagus and AVM nidus and the clinical follow-up results were available for each patient. Dose-response parameters derived by a maximum likelihood fitting were used as a reference to evaluate their compatibility with the examined treatment methodologies. The impact of the parameter uncertainties on the dose-response curves is demonstrated. The clinical utilization of the radiobiological parameters is illustrated. The radiobiological models (relative seriality and linear Poisson) and the reference parameters are validated to prove their suitability in reproducing the treatment outcome pattern of the patient material studied (through the probability of finding a worse fit, area under the ROC curve and khgr2 test). The analysis was carried out for the upper 5 cm of the esophagus (proximal esophagus) where all the strictures are formed, and the total volume of AVM. The estimated confidence intervals of the dose-response curves appear to have a significant supporting role on their clinical implementation and use.

Coexistance of cerebral sinovenous thrombosis and Dandy Walker malformation in newborn.

PubMed

Gverić-Ahmetasević, Snjezana; Colić, Ana; Gverić, Tugomir; Gasparović, Vesna Elvedi; Pavlisa, Goran; Ozretić, David

2011-01-01

Cerebral sinovenous thrombosis in neonatal period may cause neurological impairment, epilepsy, and lead to stroke. It is caused primarily by coagulopathy of numerous reasons, occasionally perinatal asphyxia, traumatic delivery and hyperhomocysteinemia. Dandy-Walker malformation is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. Dandy-Walker malformation, variant, and mega cisterna magna represent a spectrum of developmental anomalies. Insults to developing cerebellar hemispheres and the fourth ventricle are believed to be the cause of malformation. Our patient was born from noncomplicated pregnancy, noncomplicated nontraumatic vaginal delivery at term, excellent Apgar scores, without peculiarities in clinical status. She was brest-fed by the 42nd hour of life when she had rightsided seizures during sleep that repeated for five times in next 24 hours. Brain Ultrasound (US) revealed clot in left lateral ventricle, slight dilatation of left ventricle, both sided periventricular echodensity, ischemia, slight enlargement of forth ventricle and a bit smaller cerebellum. There was no visible flow through left transverse, superior sagittal and straight sinus. Magnetic Resonance (MRI) confirmed the finding and showed thrombosis of left and right transverse venous sinuses and confluence of sinuses. Electroencephalogram (EEG) showed leftsided focal changes. The newborn was treated with phenobarbiton for 8 days and had no convulsions during that period. All coagulation parameters, homocistein, lipoproteins (a) and D-dimers were normal. There were no mutations on FV R506Q, PT 20210A, MTHFR 677C/T. No antiphospholipides were found. Heart US showed no structural anomalies. No other patology or risk factors were present at the time. Before discharge, US showed hydrocephalus. Flow in affected sinuses was visible with color Doppler. MRI showed recanalization of affected sinuses, also hydrocephalus and presentation of Dandy Walker On EEG there was borderline finding. Due to progression of hydrocephalus ventriculo-peritoneal shunt was placed. In age of 1 year EEG was slower for age but without focus. Neurological development was normal for age. The question is whether this child had intrauterine insult and inception of Dandy Walker with further postnatal progress of thrombosis and evolution to full picture of Dandy Walker with hydrocephalus OR thrombosis that led to development of hydrocephalus and Dandy Walker malformation in this child were accidental coexistance.

Automatic detection and quantification of pulmonary arterio-venous malformations in hereditary hemorrhagic telangiectasia

NASA Astrophysics Data System (ADS)

Fetita, Catalin; Fortemps de Loneux, Thierry; Kouvahe, Amélé Florence; El Hajjam, Mostafa

2017-03-01

Hereditary hemorrhagic telangiectasia (HHT) is an autosomic dominant disorder, which is characterized by the development of multiple arterio-venous malformations in the skin, mucous membranes, and/or visceral organs. Pulmonary Arterio-Venous Malformation (PAVM) is an abnormal connection where feeding arteries shunt directly into draining veins with no intervening capillary bed. This condition may lead to paradoxical embolism and hemorrhagic complications. PAVMs patients should systematically be screened as the spontaneous complication rate is high, reaching almost 50%. Chest enhanced contrast CT scanner is the reference screening and follow-up examination. When performed by experienced operators as the prime treatment, percutaneous embolization of PAVMs is a safe, efficient and sustained therapy. The accuracy of PAVM detection and quantification of its progression over time is the key of embolotherapy success. In this paper, we propose an automatic method for PAVM detection and quantification relying on a modeling of vessel deformation, i.e. local caliber increase, based on mathematical morphology. The pulmonary field and vessels are first segmented using geodesic operators. The vessel caliber is estimated by means of a granulometric measure and the local caliber increase is detected by using a geodesic operator, the h-maxdomes. The detection sensitivity can be tuned up according to the choice of the h value which models the irregularity of the vessel caliber along its axis and the PAVM selection is performed according to a clinical criterion of >3 mm diameter of the feeding artery of the PAVM. The developed method was tested on a 20 patient dataset. A sensitivity study allowed choosing the irregularity parameter to maximize the true positive ratio reaching 85.4% in average. A specific false positive reduction procedure targeting the vessel trunks of the arterio-venous tree near mediastinum allows a precision increase from 13% to 67% with an average number of 1.15 false positives per scan.

[Dandy-walker syndrome and microdeletions on chromosome 7].

PubMed

Liao, Can; Fu, Fang; Li, Ru; Pan, Min; Yang, Xin; Yi, Cui-xing; Li, Jian; Li, Dong-zhi

2012-02-01

To investigate genetic etiology of Dandy-Walker syndrome with array-based comparative genomic hybridization (array-CGH). Eight fetuses with Dandy-Walker malformations but normal karyotypes by conventional cytogenetic technique were selected. DNA samples were extracted and hybridized with Affymetrix cytogenetic 2.7 M arrays by following the manufacturer's standard protocol. The data were analyzed by special software packages. By using array-CGH technique, common deletions and duplication on chromosome 7p21.3 were identified in three cases, within which were central nervous system disease associated genes NDUFA4 and PHF14. Copy number variations (CNVs) of chromosome 7p21.3 region are associated with Dandy-Walker malformations which may be due to haploinsufficiency or overexpression of NDUFA4 and PHF14 genes.

Identical twins concordant for pulmonary sequestration communicating with the esophagus and discordant for the VACTERL association.

PubMed

Becker, Julie; Hernandez, Ambrosio; Dipietro, Michael; Coran, Arnold G

2005-07-01

Communicating bronchopulmonary foregut malformations (CBPFMs) are unusual congenital structures composed of a segment of lung tissue connected to the foregut. We present what we believe is the first reported case of identical twins concordant for CBPFM who are discordant for the VACTERL association. Their nonfunctional lung tissue was successfully removed and the fistulae were corrected, and they are expected to live normal life spans. We review the literature concerning these malformations and the proposed theories of their etiology. This case report of concordance in identical twins suggests that a possible genetic component to CBPFMs cannot be ruled out. The discordance for the VACTERL association implies that the etiology is most likely multifactorial.

Abnormal vessel of the ear associated with congenital arteriovenous malformation in the postauricular region.

PubMed

Dixit, Shilpi Gupta; Dixit, Rakesh

2013-08-01

Variations in the branching pattern of the common, external, and internal carotid arteries can present as arteriovenous malformations, and their basis can be explained embryologically. Our case was a rare variation presenting as a congenital, very gradually increasing bluish painless swelling at the region of the left lobule of the ear arising from an abnormal vessel (from the postauricular artery) which was explored under general anesthesia through a postauricular curved incision. The abnormal vessel and other feeding vessels were ligated and a sclerosing agent injected. Anomalies of pharyngeal arch arteries like our case can be found resulting from the persistence of channels that normally disappear, and prior knowledge of these anomalies is essential before surgeries like mastoidectomy to prevent alarming hemorrhage.

Allopurinol Use during Pregnancy - Outcome of 31 Prospectively Ascertained Cases and a Phenotype Possibly Indicative for Teratogenicity

PubMed Central

Hoeltzenbein, Maria; Stieler, Katja; Panse, Mary; Wacker, Evelin; Schaefer, Christof

2013-01-01

Allopurinol is a purine analogue that inhibits xanthine oxidase. It is mainly used for the treatment of hyperuricemia in patients with gout or tumor lysis syndrome. Experience with allopurinol in pregnancy is scarce. In 2011, Kozenko et al. reported on a child with multiple malformations after maternal treatment with allopurinol throughout pregnancy. Possible teratogenicity of allopurinol was proposed due to the similarity of the pattern of malformations in children with mycophenolate embryopathy. A possible common mechanism of both drugs, i.e. disruption of purine synthesis, was discussed. We report on the outcome of 31 prospectively ascertained pregnancies with allopurinol exposure at least during first trimester. Pregnancy outcomes were 2 spontaneous abortions, 2 elective terminations of pregnancy and 27 live born children. The overall rate of major malformations (3.7%) and of spontaneous abortions (cumulative incidence 11%, 95%-CI 3–40) were both within the normal range. However, there was one child with severe malformations including microphthalmia, cleft lip and palate, renal hypoplasia, low-set ears, hearing deficit, bilateral cryptorchidism, and micropenis. The striking similarity of the anomalies in this child and the case described by Kozenko et al. might be considered as a signal for teratogenicity. Thus, we would recommend caution with allopurinol treatment in the first trimester, until further data are available. PMID:23840514

Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome.

PubMed

Loos, Elke; Verhaert, Nicolas; Willaert, Annelore; Devriendt, Koenraad; Swillen, Ann; Hermans, Robert; Op de Beeck, Katya; Hens, Greet

2016-11-01

The 22q11 deletion syndrome (22q11DS), the most frequent microdeletion syndrome in humans, presents with a large variety of abnormalities. A common abnormality is hearing impairment. The exact pathophysiological explanation of the observed hearing loss remains largely unknown. The aim of this study was to analyze the middle and inner ear malformations as seen on computer tomographic imaging in patients with 22q11DS. We retrospectively reviewed the charts of 11 22q11DS patients who had undergone a CT of the temporal bone in the past. Of the 22 examined ears, two showed an abnormal malleus and incus, 10 presented with a dense stapes superstructure, and three ears had an abnormal orientation of the stapes. With regard to the inner ear, 12 ears showed an incomplete partition type II with a normal vestibular aqueduct. In four ears the vestibule and lateral semicircular canal were composed of a single cavity, in 14 ears the vestibule was too wide, and three ears had a broadened lateral semicircular canal. These findings suggest that malformations of the stapes, cochlea, vestibule, and lateral semicircular canal are frequent in 22q11DS. To our knowledge, the current study involves the largest case series describing middle and inner ear malformations in 22q11DS. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

[Distraction Osteogenesis is an Effective Method to Lengthen Digits in Congenital Malformations].

PubMed

Mann, M; Hülsemann, W; Winkler, F; Habenicht, R

2016-02-01

The aim of this study was to investigate the feasible amount of lengthening by distraction osteogenesis in congenital hand deficiencies. A total of 60 patients (1.6-17.8 years) underwent lengthening of 71 bones between 1994 and 2014. Bone lengthening was performed on 46 metacarpals and 25 phalanges. Mostly the first (n=30) and the fifth (n=21) rays were lengthened. Bone lengthening was performed to treat primarily symbrachydactyly (b=32) and amniotic band syndrome (n=10). To analyze the amount of lengthening preoperative radiographs and radiographs taken while removing the external fixator were compared. The charts were reviewed regarding age at surgery, duration of lengthening, duration of bony consolidation, complication, etc. The average of metacarpal distraction was 18.4 mm=73% lengthening with respect to the preoperative length; the average of phalange distraction was 14.0 mm=77% of the preoperative length. In both, metacarpals and phalanges, a lengthening of > 100% of the preoperative bone length was possible. In target length was reached in 89% of the procedures. The average time for consolidation was 6.1 (1-20) days/mm lengthening. The external fixator was in use on average for 140 (50-346) days. After removing of the external fixator an axial K-wire was used to stabilize the callus in 9 procedure, and an iliac bone craft plus axial K-wire in 11 procedures. The rate of complications was 30% (early consolidation, deviation, joint dislocation, pin infection, tendon dislocation). All complications could be treated without with acceptable results. Metacarpal and phalangeal distraction lengthening is an effective but demanding technique for ray reconstruction in congenital malformations of the hand. It is possible to lengthen a bone by more than 100%. Complications are common, but in most cases easy to handle. © Georg Thieme Verlag KG Stuttgart · New York.

Endometriosis increases the risk of obstetrical and neonatal complications.

PubMed

Berlac, Janne Foss; Hartwell, Dorthe; Skovlund, Charlotte Wessel; Langhoff-Roos, Jens; Lidegaard, Øjvind

2017-06-01

The objective of this study was to assess obstetrical complications and neonatal outcomes in women with endometriosis as compared with women without endometriosis. National cohort including all delivering women and their newborns in Denmark 1997-2014. Data were extracted from the Danish Health Register and the Medical Birth Register. Logistic regression analysis provided odds ratios (OR) with 95% confidence intervals (CI). Sub-analyses were made for primiparous women with a singleton pregnancy and for women with endometriosis who underwent gynecological surgery before pregnancy. In 19 331 deliveries, women with endometriosis had a higher risk of severe preeclampsia (OR 1.7, 95% CI 1.5-2.0), hemorrhage in pregnancy (OR 2.3, 95% CI 2.0-2.5), placental abruption (OR 2.0, 95% CI 1.7-2.3), placenta previa (OR 3.9, 95% CI 3.5-4.3), premature rupture of membranes (OR 1.7, 95% CI 1.5-1.8), and retained placenta (OR 3.1, 95% CI 1.4-6.6). The neonates had increased risks of preterm birth before 28 weeks (OR 3.1, 95% CI 2.7-3.6), being small for gestational age (OR 1.5, 95% CI 1.4-1.6), being diagnosed with congenital malformations (OR 1.3, 95% CI 1.3-1.4), and neonatal death (OR 1.8, 95% CI 1.4-2.1). Results were similar in primiparous women with a singleton pregnancy. Gynecological surgery for endometriosis before pregnancy carried a further increased risk. Women with endometriosis had a significantly higher risk of several complications, such as preeclampsia and placental complications in pregnancy and at delivery. The newborns had increased risk of being delivered preterm, having congenital malformations, and having a higher neonatal death rate. Pregnant women with endometriosis require increased antenatal surveillance. © 2017 Nordic Federation of Societies of Obstetrics and Gynecology.

A novel zebrafish mutant with wavy-notochord: an effective biological index for monitoring the copper pollution of water from natural resources.

PubMed

Chen, Yau-Hung; Lin, Ji-Sheng

2011-02-01

We identified a novel zebrafish mutant that has wavy-notochord phenotypes, such as severely twisted notochord and posterior malformations, but has normal melanocytes. Histological evidences showed that proliferating vacuolar cells extended their growth to the muscle region, and consequently caused the wavy-notochord phenotypes. Interestingly, those malformations can be greatly reversed by exposure with copper, suggesting that copper plays an important role on wavy-notochord phenotypes. In addition, after long-term copper exposure, the surviving larvae derived from wavy-notochord mutants displayed bone malformations, such as twisted axial skeleton and osteophyte. These phenotypic changes and molecular evidences of wavy-notochord mutants are highly similar to those embryos whose lysyl oxidases activities have been inactivated. Taken together, we propose that (i) the putative mutated genes of this wavy-notochord mutant might be highly associated with the lysyl oxidase genes in zebrafish; and (ii) this fish model is an effective tool for monitoring copper pollution of water from natural resources. Copyright © 2009 Wiley Periodicals, Inc.

Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome)

PubMed Central

Pruszewicz, Antoni; Wiskirska-Woźnica, Bożena; Wojnowski, Waldemar; Czerniejewska, Hanna; Jackowska, Joanna; Jarmuż, Małgorzata; Szyfter, Krzysztof; Leszczyńska, Małgorzata

2014-01-01

Patient: Female, 6 Final Diagnosis: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: — Medication: — Clinical Procedure: — Specialty: Otolaryngology Objective: Congenital defects Background: Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertions, and trisomies) such as Down syndrome (trisomy 21), Turner syndrome, Edwards syndrome (trisomy 18), or Patau syndrome (trisomy 13). Sometimes phenotype may delusively correspond to the characteristic features of a given syndrome, but genotype tests do not confirm its presence. Case Report: We present the case of a 6-year-old girl admitted to the Clinic of Phoniatrics and Audiology for the assessment of communication in the course of congenital malformations with phenotype characteristic for trisomy 18 (Edwards syndrome). Immediately upon birth, dysmorphic changes suggesting trisomy 18 (Edwards syndrome) were observed, but trisomy 18 was excluded after karyotype test results were normal (46, XX). Conclusions: Disturbed articulation was diagnosed: deformed linguo-dental and palatal sounds, interdental realization with flat tongue of the /s/, /z/, /c/, /dz/, /ś/, /ź/, /ć/, /dz/ sounds (sigmatismus interdentalis). Hearing loss was confirmed. PMID:24478819

Evidence against a direct role for oxidative stress in cadmium-induced axial malformation in the chick embryo

DOE Office of Scientific and Technical Information (OSTI.GOV)

Thompson, Jennifer, E-mail: jennifer.thompson@ucd.i; Doi, Takashi; The Children's Research Centre, Our Lady's Children's Hospital, Dublin 12

Cadmium (Cd) is a powerful inducer of oxidative stress. It also causes ventral body wall defects in chick embryos treated at Hamburger-Hamilton stages 16-17. By measuring malondialdehyde levels (TBARS method) and cotreating with antioxidants (tempol, ascorbate, and N-acetylcysteine), we sought to determine if oxidative stress were directly related to teratogenesis. We also investigated the expression of mRNAs for antioxidant enzymes superoxide dismutase (SOD) -1 and -2, catalase (CAT), and glutathione peroxidase (GPx). RT-PCR showed reductions in SOD-1, SOD-2, and CAT 1 hour after treatment with Cd. MDA levels increased 4 hours after Cd, and remained elevated 24 hours after treatment.more » Of the antioxidants, only N-acetylcysteine reduced MDA levels to control values. Nonetheless, no antioxidant could reduce embryo lethality or malformation rates. Furthermore, MDA levels 24 hours after treatment were identical in malformed and normal embryos exposed to Cd. Hence, we conclude that oxidative stress may not have a direct role in Cd teratogenesis.« less

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.

PubMed

Juric-Sekhar, Gordana; Kapur, Raj P; Glass, Ian A; Murray, Mitzi L; Parnell, Shawn E; Hevner, Robert F

2011-04-01

Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic types. MOPD type II is caused by pericentrin mutations, while types I and III appear to represent a distinct entity (MOPD I/III) with variably penetrant phenotypes and unknown genetic basis. The neuropathology of MOPD I/III is little understood, especially in comparison to other forms of lissencephaly. Here, we report postmortem brain findings in an 11-month-old female infant with MOPD I/III. The cerebral cortex was diffusely pachygyric, with a right parietal porencephalic lesion. Histologically, the cortex was abnormally thick and disorganized. Distinct malformations were observed in different cerebral lobes, as characterized using layer-specific neuronal markers. Frontal cortex was severely disorganized and coated with extensive leptomeningeal glioneuronal heterotopia. Temporal cortex had a relatively normal 6-layered pattern, despite cortical thickening. Occipital cortex was variably affected. The corpus callosum was extremely hypoplastic. Brainstem and cerebellar malformations were also present, as well as old necrotic foci. Findings in this case suggest that the cortical malformation in MOPD I/III is distinct from other forms of pachygyria-lissencephaly.

The outcome of pregnancy after threatened abortion.

PubMed

Hertz, J B; Heisterberg, L

1985-01-01

A prospectively collected group of 93 pregnancies complicated by threatened abortion was carefully monitored throughout pregnancy, during birth and in the perinatal period, and any deviation from a completely uneventful course was registered. Comparison was made with a selected group of 282 non-risk pregnant women. A significant association was found between threatened abortion and the overall number of complications in the second half of pregnancy requiring medical intervention and/or admission to hospital, impending pre-term birth requiring betamimetics, pre-term birth, retention of the placenta, birth weight below 2000 g, light-for-dates infants in case of pre-term birth or birth weight below 2000 g, and hyperbilirubinemia in infants with birth weight below 2000 g. The incidences of perinatal mortality and congenital malformations did not differ significantly from those of the control group. Pregnancies complicated by threatened abortion constitute a risk group requiring careful obstetric and perinatal supervision and follow-up.

BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment

PubMed Central

Hsu, Ying; Kim, Gunhee; Zhang, Qihong; Datta, Poppy; Seo, Seongjin

2017-01-01

Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disability, and genital and renal abnormalities. To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary trafficking) can be temporally inactivated or restored. We demonstrate that BBS mutant mice have defects in retinal outer segment morphogenesis. We further demonstrate that removal of Bbs8 in adult mice affects photoreceptor function and disrupts the structural integrity of the outer segment. Notably, using a mouse model in which a gene trap inhibiting Bbs8 gene expression can be removed by an inducible FLP recombinase, we show that when BBS8 is restored in immature retinas with malformed outer segments, outer segment extension can resume normally and malformed outer segment discs are displaced distally by normal outer segment structures. Over time, the retinas of the rescued mice become morphologically and functionally normal, indicating that there is a window of plasticity when initial retinal outer segment morphogenesis defects can be ameliorated. PMID:29049287

Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ignacio Rodriquez, J.; Garcia, I.; Alvarez, J.

1994-11-01

The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by {open_quotes}coarse{close_quotes} face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a {open_quotes}coarse{close_quotes} face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister-Killian syndrome, especially if karyotyping is unavailable or if peripheral lumphocytes have a normal chromosome constitution. An initial diagnosis of Fryns syndrome had to be modified in 3 successive newbornmore » infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister-Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of {open_quotes}coarse{close_quotes} face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this phenotype, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling. 31 refs., 10 figs., 1 tab.« less

Management of epilepsy during pregnancy: an update

PubMed Central

Patel, Sima I.; Pennell, Page B.

2015-01-01

The clinical management of women with epilepsy on antiepileptic drugs (AEDs) during pregnancy presents unique challenges. The goal of treatment is optimal seizure control with minimal in utero fetal exposure to AEDs in an effort to reduce the risk of structural and neurodevelopmental teratogenic effects. This paper reviews the following key issues pertaining to women with epilepsy during pregnancy: AED pharmacokinetics; clinical management of AEDs; seizure frequency; major congenital malformation; neurodevelopmental outcomes; perinatal complications; and breast feeding. PMID:27006699

[Value of x-ray computed tomography in the study of the inferior vena cava in urologic practice].

PubMed

Barré, C; Vialle, M; Rieux, D; Caron-Poitreau, C; Soret, J Y; Rognon, M

1985-01-01

The CT scan provides a reliable evaluation of the inferior vena cava, especially since the development of second and third generation scanners. It can readily detect congenital malformations and obstructive anomalies complicating renal cancer and it is also able to determine the tumoral or thrombotic nature of the venous obstruction. This excellent definition of the vessel reduces the indications for caval angiography to a few exceptional cases.

The safety of escitalopram during pregnancy and breastfeeding: a comprehensive review.

PubMed

Bellantuono, Cesario; Bozzi, Francesca; Orsolini, Laura; Catena-Dell'Osso, Mario

2012-11-01

Escitalopram (ESC) is considered one of the most effective selective serotonin reuptake inhibitors for the treatment of major depression. However, little is known on its potential risk of inducing major malformations (MMs) and perinatal complications (PCs). Hence, aim of the present study is to provide a comprehensive review of the available literature on the safety profile of ESC during pregnancy and breastfeeding. MEDLINE and PubMed databases were searched for English language articles by using the following keywords: escitalopram, selective serotonin reuptake inhibitors, major malformations, perinatal complications, pregnancy, and breastfeeding. Although some cases of MMs have been reported after maternal exposure to ESC during early pregnancy, the rate of these adverse events is substantially in the range of those reported in unexposed women. On the contrary, exposure to ESC seems to be significantly associated with some PCs. No adverse effects have been reported in the few studies evaluating its safety during breastfeeding. The available data seem to support the notion that ESC might be considered safe during pregnancy, in particular as far as MMs is concerned. However, similar to other selective serotonin reuptake inhibitors, it could be associated with an increased risk of PCs. Given the paucity of the studies published so far, no definitive conclusions can be drawn on its safety profile during breastfeeding. Copyright © 2012 John Wiley & Sons, Ltd.

Comparison of Clinical and Radiographic Outcomes for Posterior Fossa Decompression with and without Duraplasty for Treatment of Pediatric Chiari I Malformation: A Prospective Study.

PubMed

Jiang, Enze; Sha, Shifu; Yuan, XinXin; Zhu, WeiGuo; Jiang, Jian; Ni, Hongbin; Liu, Zhen; Qiu, Yong; Zhu, Zezhang

2018-02-01

The aim of this study was to prospectively compare the radiographic and clinical outcomes between the posterior fossa decompression (PFD) and PFD with duraplasty (PFDD) procedures in adolescent patients with Chiari malformation type I (CMI). Ninety adolescent patients with CMI were randomly assigned to undergo either PFDD or PFD. In both groups, a dissection from the occipital bone was performed. The dura was not opened in the PFD group, and the outer layer of dura was resected. However, in the PFDD group, the dura mater was opened and expanded. Data were analyzed for clinical outcome, complications, and syrinx resolution. The age, gender, and preoperative neurologic status were similar between the 2 groups. Compared with the PFD group, patients undergoing PFDD had significantly longer operation time, longer postoperative drainage time, and higher drainage volume. At the latest follow-up, no statistically significant difference was found between the 2 groups in terms of syrinx resolution. The clinical outcomes were similar in the PFDD and PFD group. Compared with the PFD group, patients in the PFDD group had a higher incidence of cerebrospinal fluid leak. Compared with the more aggressive decompression with duraplasty, PFD without duraplasty produces comparable radiologic and clinical outcomes and is associated with a lower risk of complications. Copyright © 2017 Elsevier Inc. All rights reserved.

Atypical cerebellar slump syndrome and external hydrocephalus following craniocervical decompression for Chiari I malformation: case report.

PubMed

Thakar, Sumit; Dadlani, Ravi; Tawari, Manish; Hegde, Alangar S

2014-01-01

Symptomatic cerebellar slump (CS) and external hydrocephalus (EH) are amongst the rarer complications of foramen magnum decompression (FMD) for Chiari I malformation (CM). CS typically presents with delayed onset headache related to dural traction or with neurological deficit offsetting the benefit of FMD. EH, consisting of ventriculomegaly along with subdural fluid collection(s) (SFCs), has been related to cerebrospinal fluid egress from a tiny breach in an otherwise intact arachnoid. We describe the case of a 21-year-old man with CM and syringomyelia who presented with impaired gag, spastic quadriparesis, and raised intracranial pressure 1 week following an uneventful FMD during which the arachnoid had been widely fenestrated. Magnetic resonance imaging (MRI) showed an infratentorial SFC, dilated aqueduct and triventriculomegaly, features of CS, and a residual but resolving syrinx. His symptoms resolved following a high pressure ventriculo-peritoneal shunt. At a 6-month follow-up visit, he was asymptomatic and demonstrated partial resolution of the syrinx, with no recurrence of the SFC. The unusual features in the clinical course of this patient were an atypical CS syndrome presenting with concomitantly resolving syringomyelia, and the development of EH after a wide arachnoidal fenestration. This is the first case in indexed literature describing such a combination of unusual postoperative complications of a FMD. A hypothesis is presented to explain the clinico-radiological findings of the case.

Atypical Cerebellar Slump Syndrome and External Hydrocephalus following Craniocervical Decompression for Chiari I Malformation: Case Report

PubMed Central

THAKAR, Sumit; DADLANI, Ravi; TAWARI, Manish; HEGDE, Alangar S

2014-01-01

Symptomatic cerebellar slump (CS) and external hydrocephalus (EH) are amongst the rarer complications of foramen magnum decompression (FMD) for Chiari I malformation (CM). CS typically presents with delayed onset headache related to dural traction or with neurological deficit offsetting the benefit of FMD. EH, consisting of ventriculomegaly along with subdural fluid collection(s) (SFCs), has been related to cerebrospinal fluid egress from a tiny breach in an otherwise intact arachnoid. We describe the case of a 21-year-old man with CM and syringomyelia who presented with impaired gag, spastic quadriparesis, and raised intracranial pressure 1 week following an uneventful FMD during which the arachnoid had been widely fenestrated. Magnetic resonance imaging (MRI) showed an infratentorial SFC, dilated aqueduct and triventriculomegaly, features of CS, and a residual but resolving syrinx. His symptoms resolved following a high pressure ventriculo-peritoneal shunt. At a 6-month follow-up visit, he was asymptomatic and demonstrated partial resolution of the syrinx, with no recurrence of the SFC. The unusual features in the clinical course of this patient were an atypical CS syndrome presenting with concomitantly resolving syringomyelia, and the development of EH after a wide arachnoidal fenestration. This is the first case in indexed literature describing such a combination of unusual postoperative complications of a FMD. A hypothesis is presented to explain the clinico-radiological findings of the case. PMID:24257499

Characterization of Atrazine-Induced Gonadal Malformations in African Clawed Frogs (Xenopus laevis) and Comparisons with Effects of an Androgen Antagonist (Cyproterone Acetate) and Exogenous Estrogen (17β-Estradiol): Support for the Demasculinization/Feminization Hypothesis

PubMed Central

Hayes, Tyrone B.; Stuart, A. Ali; Mendoza, Magdalena; Collins, Atif; Noriega, Nigel; Vonk, Aaron; Johnston, Gwynne; Liu, Roger; Kpodzo, Dzifa

2006-01-01

Atrazine is a potent endocrine disruptor that both chemically castrates and feminizes male amphibians. It depletes androgens in adult frogs and reduces androgen-dependent growth of the larynx in developing male larvae. It also disrupts normal gonadal development and feminizes the gonads of developing males. Gonadal malformations induced by atrazine include hermaphrodites and males with multiple testes [single sex polygonadism (SSP)], and effects occur at concentrations as low as 0.1 ppb (μg/L). Here, we describe the frequencies at which these malformations occur and compare them with morphologies induced by the estrogen, 17β-estradiol (E2), and the antiandrogen cyproterone acetate, as a first step in testing the hypothesis that the effects of atrazine are a combination of demasculinization and feminization. The various forms of hermaphroditism did not occur in controls. Nonpigmented ovaries, which occurred at relatively high frequencies in atrazine-treated larvae, were found in four individuals out of more than 400 controls examined (1%). Further, we show that several types of gonadal malformations (SSP and three forms of hermaphroditism) are produced by E2 exposure during gonadal differentiation, whereas a final morphology (nonpigmented ovaries) appears to be the result of chemical castration (disruption of androgen synthesis and/or activity) by atrazine. These experimental findings suggest that atrazine-induced gonadal malformations result from the depletion of androgens and production of estrogens, perhaps subsequent to the induction of aromatase by atrazine, a mechanism established in fish, amphibians, reptiles, and mammals (rodents and humans). PMID:16818259

Sox9b Is Required for Epicardium Formation and Plays a Role in TCDD-Induced Heart Malformation in Zebrafish

PubMed Central

Hofsteen, Peter; Plavicki, Jessica; Johnson, Shaina D.; Peterson, Richard E.

2013-01-01

Activation of the transcription factor aryl hydrocarbon receptor by 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) prevents the formation of the epicardium and leads to severe heart malformations in developing zebrafish (Danio rerio). The downstream genes that cause heart malformation are not known. Because TCDD causes craniofacial malformations in zebrafish by downregulating the sox9b gene, we hypothesized that cardiotoxicity might also result from sox9b downregulation. We found that sox9b is expressed in the developing zebrafish heart ventricle and that TCDD exposure markedly reduces this expression. Furthermore, we found that manipulation of sox9b expression could phenocopy many but not all of the effects of TCDD at the heart. Loss of sox9b prevented the formation of epicardium progenitors comprising the proepicardium on the pericardial wall, and prevented the formation and migration of the epicardial layer around the heart. Zebrafish lacking sox9b showed pericardial edema, an elongated heart, and reduced blood circulation. Fish lacking sox9b failed to form valve cushions and leaflets. Sox9b is one of two mammalian Sox9 homologs, sox9b and sox9a. Knock down of sox9a expression did not cause cardiac malformations, or defects in epicardium development. We conclude that the decrease in sox9b expression in the heart caused by TCDD plays a role in many of the observed signs of cardiotoxicity. We find that while sox9b is expressed in myocardial cells, it is not normally expressed in the affected epicardial cells or progenitors. We therefore speculate that sox9b is involved in signals between the cardiomyocytes and the nascent epicardial cells. PMID:23775563

Effectiveness of senna vs polyethylene glycol as laxative therapy in children with constipation related to anorectal malformation.

PubMed

Santos-Jasso, Karla Alejandra; Arredondo-García, José Luis; Maza-Vallejos, Jorge; Lezama-Del Valle, Pablo

2017-01-01

Constipation is present in 80% of children with corrected anorectal malformations, usually associated to rectal dilation and hypomotility. Osmotic laxatives are routinely used for idiopathic constipation. Senna is a stimulant laxative that produces contractions improving colonic motility without affecting the stool consistency. We designed this trial to study the effectiveness of Senna versus polyethylene glycol for the treatment of constipation in children with anorectal malformation. A randomized controlled crossover design clinical trial, including a washout period, was conducted, including children with corrected anorectal malformations with fecal continence and constipation. The sample size was calculated for proportions (n=28) according to available data for Senna. Effectiveness of laxative therapy was measured with a three variable construct: 1) daily bowel movement, 2) fecal soiling, 3) a "clean" abdominal x-ray. Data analysis included descriptive statistics and a Fisher's exact test for the outcome variable (effectiveness). The study was terminated early because the interim analysis showed a clear benefit toward Senna (p = 0.026). The sample showed a normal statistical distribution for the variables age and presence of megarectum. The maximum daily dose of Senna (sennosides A and B) was 38.7mg and 17g for polyethylene glycol. No adverse effects were identified. Therapy with Senna should be the laxative treatment of choice as part of a bowel management program in children with repaired anorectal malformations and constipation, since the stimulation of colonic propulsion waves could lead to stool evacuation without modification of its consistency which can affect fecal continence. I - randomized controlled trial with adequate statistical power. Copyright © 2017 Elsevier Inc. All rights reserved.

Human genetics and molecular mechanisms of vein of Galen malformation.

PubMed

Duran, Daniel; Karschnia, Philipp; Gaillard, Jonathan R; Karimy, Jason K; Youngblood, Mark W; DiLuna, Michael L; Matouk, Charles C; Aagaard-Kienitz, Beverly; Smith, Edward R; Orbach, Darren B; Rodesch, Georges; Berenstein, Alejandro; Gunel, Murat; Kahle, Kristopher T

2018-04-01

Vein of Galen malformations (VOGMs) are rare developmental cerebrovascular lesions characterized by fistulas between the choroidal circulation and the median prosencephalic vein. Although the treatment of VOGMs has greatly benefited from advances in endovascular therapy, including technical innovation in interventional neuroradiology, many patients are recalcitrant to procedural intervention or lack accessibility to specialized care centers, highlighting the need for improved screening, diagnostics, and therapeutics. A fundamental obstacle to identifying novel targets is the limited understanding of VOGM molecular pathophysiology, including its human genetics, and the lack of an adequate VOGM animal model. Herein, the known human mutations associated with VOGMs are reviewed to provide a framework for future gene discovery. Gene mutations have been identified in 2 Mendelian syndromes of which VOGM is an infrequent but associated phenotype: capillary malformation-arteriovenous malformation syndrome ( RASA1) and hereditary hemorrhagic telangiectasia ( ENG and ACVRL1). However, these mutations probably represent only a small fraction of all VOGM cases. Traditional genetic approaches have been limited in their ability to identify additional causative genes for VOGM because kindreds are rare, limited in patient number, and/or seem to have sporadic inheritance patterns, attributable in part to incomplete penetrance and phenotypic variability. The authors hypothesize that the apparent sporadic occurrence of VOGM may frequently be attributable to de novo mutation or incomplete penetrance of rare transmitted variants. Collaboration among treating physicians, patients' families, and investigators using next-generation sequencing could lead to the discovery of novel genes for VOGM. This could improve the understanding of normal vascular biology, elucidate the pathogenesis of VOGM and possibly other more common arteriovenous malformation subtypes, and pave the way for advances in the diagnosis and treatment of patients with VOGM.

The Retrograde Transvenous Push-Through Method: A Novel Treatment of Peripheral Arteriovenous Malformations with Dominant Venous Outflow

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wohlgemuth, Walter A., E-mail: walter.wohlgemuth@ukr.de; Müller-Wille, René, E-mail: Rene.Mueller-Wille@ukr.de; Teusch, Veronika I., E-mail: Veronika.Teusch@gmx.de

2015-06-15

PurposeTo evaluate the efficacy and safety of a novel retrograde transvenous embolization technique of peripheral arteriovenous malformations (AVMs) using Onyx.Materials and MethodsWe conducted a retrospective analysis of all patients who underwent transvenous retrograde Onyx embolization of peripheral AVMs with dominant venous outflow over a 29-month period. The embolization is aimed at retrograde filling of the nidus after building a solid plug in the dominant venous outflow (push-through). Classification, clinical signs, technical aspects, clinical and technical success rates, and complications were recorded. Short-term outcome was assessed.Results11 Symptomatic patients (8 female; mean age 31.4 years) were treated at our Vascular Anomalies Center withmore » this method between January 2012 and May 2014. The AVMs were located on the upper extremity (n = 3), pelvis (n = 2), buttock (n = 2), and lower extremity (n = 4). Retrograde embolization was successfully carried out after preparatory transarterial-flow reduction in eight cases (73 %) and venous-flow reduction with Amplatzer Vascular Plugs in four cases (36 %). Complete devascularization (n = 10; 91 %) or 95 % devascularization (n = 1; 9 %) led to complete resolution (n = 8; 73 %) or improvement of clinical symptoms (n = 3; 27 %). One minor complication occurred (pain and swelling). During a mean follow-up time of 8 months, one clinically asymptomatic recurrence of AVM was detected.ConclusionInitial results suggest that retrograde transvenous Onyx embolization of peripheral AVMs with dominant venous outflow is a safe and effective novel technique with a low complication rate.« less

Advances in the treatment and outcome of brainstem cavernous malformation surgery: a single-center case series of 300 surgically treated patients.

PubMed

Abla, Adib A; Lekovic, Gregory P; Turner, Jay D; de Oliveira, Jean G; Porter, Randall; Spetzler, Robert F

2011-02-01

Brainstem cavernous malformations (BSCMs) are relatively uncommon, low-flow vascular lesions. Because of their relative rarity, relatively little data on their natural history and on the efficacy and durability of their treatment. To evaluate the long-term durability of surgical treatment of BSCMs and to document patient outcomes and clinical complications. The charts of all patients undergoing surgical treatment of BSCM between 1985 and 2009 were reviewed retrospectively. The study population consisted of 300 patients who had surgery for BSCM. Forty patients were under 19 years of age at surgery; pediatric BSCMs have been reported separately. Patient demographics, lesion characteristics, surgical approaches, and patient outcomes were examined. The study population consisted of 260 adult patients with a female-to-male ratio of 1.5 and mean age of 41.8 years. Of the 260 patients, 252 presented with a clinical or radiographic history of hemorrhage. The mean follow-up in 240 patients was 51 months. The mean Glasgow Outcome Scale on admission, at discharge, and at last follow-up was 4.4, 4.2, and 4.6. Postoperatively, 137 patients (53%) developed new or worsening neurological symptoms. Permanent new deficits remained in 93 patients 3(36%). There were perioperative complications in 74 patients (28%); tracheostomy, feeding tube placement, and cerebrospinal fluid leakage were most common. Eighteen patients (6.9%) experienced 20 rehemorrhages. Twelve patients required reoperation for residual/recurrent BSCM. The overall annual risk of postoperative rehemorrhage was 2%/patient. Although BSCM surgery has significant associated risks, including perioperative complications, new neurological deficits, and death, most patients have favorable outcomes. Overall, surgery markedly improved the risk of rehemorrhage and related symptoms and should be considered in patients with accessible lesions.

Comparison of posterior fossa decompression with and without duraplasty for the surgical treatment of Chiari malformation type I in adult patients

PubMed Central

Chen, Junchen; Li, Yongning; Wang, Tianyu; Gao, Jun; Xu, Jincheng; Lai, Runlong; Tan, Dianhui

2017-01-01

Abstract Chiari malformation type I (CM-I) is a congenital neurosurgical disease about the herniation of cerebellar tonsil through the foramen magnum. A variety of surgical techniques for CM-I have been used, and there is a controversy whether to use posterior fossa decompression with duraplasty (PFDD) or posterior fossa decompression without duraplasty (PFD) in CM-I patients. Here, we compared the clinical results and effectiveness of PFDD and PFD in adult patients with CM-I. The cases of 103 adult CM-I patients who underwent posterior fossa decompression with or without duraplasty from 2008 to 2014 were reviewed retrospectively. Patients were divided into 2 groups according to the surgical techniques: PFDD group (n = 70) and PFD group (n = 33). We compared the demographics, preoperative symptoms, radiographic characteristics, postoperative complications, and clinical outcomes between the PFD and PFDD patients. No statistically significant differences were found between the PFDD and PFD groups with regard to demographics, preoperative symptoms, radiographic characteristics, and clinical outcomes(P > 0.05); however, the postoperative complication aseptic meningitis occurred more frequently in the PFDD group than in the PFD group (P = 0.027). We also performed a literature review about the PFDD and PFD and made a summary of these preview studies. Our study suggests that both PFDD and PFD could achieve similar clinical outcomes for adult CM-I patients. The choice of surgical procedure should be based on the patient's condition. PFDD may lead to a higher complication rate and autologous grafts seemed to perform better than nonautologous grafts for duraplasty. PMID:28121938

Syringo-Subarachnoid Shunt for the Treatment of Persistent Syringomyelia Following Decompression for Chiari Type I Malformation: Surgical Results.

PubMed

Soleman, Jehuda; Roth, Jonathan; Bartoli, Andrea; Rosenthal, Daniel; Korn, Akiva; Constantini, Shlomi

2017-12-01

Approximately 30% of patients treated with foramen magnum decompression (FMD) for Chiari I-associated syringomyelia will show persistence, recurrence, or progression of the syrinx. This study evaluates the clinical and radiologic outcomes of syringo-subarachnoid shunt (SSS) as the treatment for persistent syringomyelia after FMD. Data were collected retrospectively. The primary outcome measurement was neurologic function (assessed with the Modified Japanese Orthopedic Association [mJOA] scale). Secondary outcome measurements were surgical complications, reoperation rate, and syrinx status on magnetic resonance imaging (MRI). Twenty-one patients (14 females [66.7%]) underwent SSS, either concurrent to the FMD or at a later stage. Two minor surgical complications were seen: a wound dehiscence and postoperative kyphosis, both requiring revision surgery. No major complication or mortality occurred. The median change in the mJOA score was an improvement of 3 out of a possible 17 points on the scale (mean follow-up, 24.9 months). Expressed as a percentage, overall improvement was 11.8% (95% confidence interval [CI], 5.9-17.6; P < 0.001). On postoperative MRI, shrinkage of the syrinx was seen in all but 1 patient in whom the syrinx remained unchanged. Expressed as percentage, the improvement of the syrinx surface was 76.3% (95% CI, 65.0-87.7; P < 0.001), and the improvement of syrinx span was 36.4% (95% CI, 21.8-50.9; P = 0.05). SSS for persistent, recurrent, or increasing syrinx following FMD for Chiari I malformation is a safe and effective surgical treatment when performed selectively by an experienced neurosurgeon. Copyright © 2017 Elsevier Inc. All rights reserved.

Operative correction and follow-up of craniofacial duplication.

PubMed

Kotrikova, Bibiana; Hassfeld, Stefan; Steiner, Hans H; Hähnel, Stefan; Krempien, Robert; Mühling, Joachim

2007-03-01

Anterior craniofacial duplication (diprosopus) is an extremely rare form of conjoined twins. The children share a single trunk with normal extremities and varying degrees of facial malformation. Duplication of specific structures, such as the nose (diprosopus dirrhinus), eyes (diprosopus tetraophthalmus), and ears, is possible. The authors present a case of partial facial duplication (diprosopus dirrhinus) in a male infant. The clinical and radiographic findings and the surgical correction and follow-up are described. In a single surgical session, the authors were able to achieve not only a functionally but also an aesthetically acceptable result. In the postoperative course, the child showed nearly normal growth and satisfactory psychosocial and motor development. However, 40 months postoperatively, we noticed a tendency of the orbitae to diverge (i.e., toward hypertelorism). The surgical management of complex craniofacial malformations such as diprosopus needs a precise morphologic analysis of the patient's deformity followed by a clear treatment plan. A staged reconstructive approach is carried out to coincide with facial growth patterns and brain and eye function. If the interorbital distance in our patient increases progressively, a second operation for reduction of the interorbital distance may be necessary.

Anatomic variants in Dandy-Walker complex.

PubMed

Jurcă, Maria Claudia; Kozma, Kinga; Petcheşi, CodruŢa Diana; Bembea, Marius; Pop, Ovidiu Laurean; MuŢiu, Gabriela; Coroi, Mihaela Cristiana; Jurcă, Alexandru Daniel; Dobjanschi, Luciana

2017-01-01

Dandy-Walker complex (DWC) is a malformative association of the central nervous system. DWC includes four different types: Dandy-Walker malformation (vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a large posterior fossa); Dandy-Walker variant (vermis hypoplasia, cystic dilatation of the fourth ventricle, normal posterior fossa); mega cysterna magna (large posterior fossa, normal vermis and fourth ventricle) and posterior fossa arachnoid cyst. We present and discuss four cases with different morphological and clinical forms of the Dandy-Walker complex. In all four cases, diagnosis was reached by incorporation of clinical (macrocephaly, seizures) and imaging [X-ray, computed tomography (CT), magnetic resonance imaging (MRI)] data. Two patients were diagnosed with Dandy-Walker complex, one patient was diagnosed with Dandy-Walker variant in a rare association with neurofibromatosis and one patient was diagnosed with a posterior fossa arachnoid cyst associated with left-sided Claude Bernard-Horner syndrome, congenital heart disease (coarctation of the aorta, mitral stenosis) and gastroesophageal reflux. In all forms of DWC, the clinical, radiological and functional manifestations are variable and require adequate diagnostic and therapeutic measures.

A case-control study of maternal periconceptual and pregnancy recreational drug use and fetal malformation using hair analysis.

PubMed

David, Anna L; Holloway, Andrew; Thomasson, Louise; Syngelaki, Argyro; Nicolaides, Kypros; Patel, Roshni R; Sommerlad, Brian; Wilson, Amie; Martin, William; Chitty, Lyn S

2014-01-01

Maternal recreational drug use may be associated with the development of fetal malformations such as gastroschisis, brain and limb defects, the aetiology due to vascular disruption during organogenesis. Using forensic hair analysis we reported evidence of recreational drug use in 18% of women with a fetal gastroschisis. Here we investigate this association in a variety of fetal malformations using the same method. In a multi-centre study, women with normal pregnancies (controls) and those with fetal abnormalities (cases) gave informed consent for hair analysis for recreational drug metabolites using mass spectrometry. Hair samples cut at the root were tested in sections corresponding to 3 month time periods (pre and periconceptual period). Women whose fetus had gastroschisis, compared to women with a normal control fetus, were younger (mean age 23.78 ± SD4.79 years, 18-37 vs 29.79 ± SD6 years, 18-42, p = 0.00001), were more likely to have evidence of recreational drug use (15, 25.4% vs 21, 13%, OR2.27, 95thCI 1.08-4.78, p = 0.028), and were less likely to report periconceptual folic acid use (31, 53.4% vs 124, 77.5%, OR0.33, 95thCI 0.18-0.63, p = 0.001). Age-matched normal control women were no less likely to test positive for recreational drugs than women whose fetus had gastroschisis. After accounting for all significant factors, only young maternal age remained significantly associated with gastroschisis. Women with a fetus affected by a non-neural tube central nervous system (CNS) anomaly were more likely to test positive for recreational drugs when compared to women whose fetus was normal (7, 35% vs 21, 13%, OR3.59, 95th CI1.20-10.02, p = 0.01). We demonstrate a significant association between non neural tube CNS anomalies and recreational drug use in the periconceptual period, first or second trimesters, but we cannot confirm this association with gastroschisis. We confirm the association of gastroschisis with young maternal age.

A Case-Control Study of Maternal Periconceptual and Pregnancy Recreational Drug Use and Fetal Malformation Using Hair Analysis

PubMed Central

David, Anna L.; Holloway, Andrew; Thomasson, Louise; Syngelaki, Argyro; Nicolaides, Kypros; Patel, Roshni R.; Sommerlad, Brian; Wilson, Amie; Martin, William; Chitty, Lyn S.

2014-01-01

Objective Maternal recreational drug use may be associated with the development of fetal malformations such as gastroschisis, brain and limb defects, the aetiology due to vascular disruption during organogenesis. Using forensic hair analysis we reported evidence of recreational drug use in 18% of women with a fetal gastroschisis. Here we investigate this association in a variety of fetal malformations using the same method. Methods In a multi-centre study, women with normal pregnancies (controls) and those with fetal abnormalities (cases) gave informed consent for hair analysis for recreational drug metabolites using mass spectrometry. Hair samples cut at the root were tested in sections corresponding to 3 month time periods (pre and periconceptual period). Results Women whose fetus had gastroschisis, compared to women with a normal control fetus, were younger (mean age 23.78±SD4.79 years, 18–37 vs 29.79±SD6 years, 18–42, p = 0.00001), were more likely to have evidence of recreational drug use (15, 25.4% vs 21, 13%, OR2.27, 95thCI 1.08–4.78, p = 0.028), and were less likely to report periconceptual folic acid use (31, 53.4% vs 124, 77.5%, OR0.33, 95thCI 0.18–0.63, p = 0.001). Age-matched normal control women were no less likely to test positive for recreational drugs than women whose fetus had gastroschisis. After accounting for all significant factors, only young maternal age remained significantly associated with gastroschisis. Women with a fetus affected by a non-neural tube central nervous system (CNS) anomaly were more likely to test positive for recreational drugs when compared to women whose fetus was normal (7, 35% vs 21, 13%, OR3.59, 95th CI1.20–10.02, p = 0.01). Conclusions We demonstrate a significant association between non neural tube CNS anomalies and recreational drug use in the periconceptual period, first or second trimesters, but we cannot confirm this association with gastroschisis. We confirm the association of gastroschisis with young maternal age. PMID:25360669

Risk factors for nosocomial infections after cardiac surgery in newborns with congenital heart disease.

PubMed

García, Heladia; Cervantes-Luna, Beatriz; González-Cabello, Héctor; Miranda-Novales, Guadalupe

2017-11-23

Congenital heart diseases are among the most common congenital malformations. Approximately 50% of the patients with congenital heart disease undergo cardiac surgery. Nosocomial infections (NIs) are the main complications and an important cause of increased morbidity and mortality associated with congenital heart diseases. This study's objective was to identify the risk factors associated with the development of NIs after cardiac surgery in newborns with congenital heart disease. This was a nested case-control study that included 112 newborns, including 56 cases (with NI) and 56 controls (without NI). Variables analyzed included perinatal history, associated congenital malformations, Risk-Adjusted Congenital Heart Surgery (RACHS-1) score, perioperative and postoperative factors, transfusions, length of central venous catheter, nutritional support, and mechanical ventilation. Differences were calculated with the Mann-Whitney-U test, Pearson X 2 , or Fisher's exact test. A multivariate logistic regression was used to determine the independent risk factors. Sepsis was the most common NI (37.5%), and the main causative microorganisms were gram-positive cocci. The independent risk factors associated with NI were non-cardiac congenital malformations (OR 6.1, CI 95% 1.3-29.4), central venous catheter indwelling time > 14 days (OR 3.7, CI 95% 1.3-11.0), duration of mechanical ventilation > 7 days (OR 6.6, CI 95% 2.1-20.1), and ≥5 transfusions of blood products (OR 3.1, CI 95% 1.3-8.5). Mortality attributed to NI was 17.8%. Newborns with non-cardiac congenital malformations and with >7 days of mechanical ventilation were at higher risk for a postoperative NI. Efforts must focus on preventable infections, especially in bloodstream catheter-related infections, which account for 20.5% of all NIs. Copyright © 2017. Published by Elsevier B.V.

Anatomical measurement of the ossicles in patients with congenital aural atresia and stenosis.

PubMed

Li, Jieying; Chen, Keguang; Li, Chenlong; Yin, Dongming; Zhang, Tianyu; Dai, Peidong

2017-10-01

Our aims were to measure and compare anatomical parameters of the ossicles in normal, congenital aural stenosis (CAS), and congenital aural atresia (CAA) ears. This retrospective study was performed using three-dimensional reconstructed images derived from computed tomography scans of 20 normal subjects, 20 CAS patients, and 20 CAA patients. The lengths of the malleus handle and long process of the incus were greater in normal ears than in CAS and CAA ears (all P < 0.05). The angles of the incudostapedial joint and between the short and long processes of the incus were smaller in normal ears than in CAS and CAA ears (all P < 0.05). There were no significant differences in the positions of the malleus head and incudomalleolar joint, the size of the malleus head, the length of the short process of the incus, or the angle of the incudomalleolar joint (P > 0.05). Anatomical parameters of the lower part, but not of the upper part, of the ossicular chain in CAS and CAA ears differed from those in normal ears. Different branchial arch origins of the upper and lower parts of the ossicular chain may explain these findings. Dysplasia of the second arch, which develops into the lower part of the ossicular chain, may contribute to ossicular malformation in CAA and CAS. Accurate radiographic measurement of malformed ossicles may be useful for reconstructive surgery of CAA and CAS using the patient's native ossicular chain and for choosing an appropriate place for active middle ear implants. Copyright © 2017. Published by Elsevier B.V.

ACR Appropriateness Criteria® First Trimester Vaginal Bleeding.

PubMed

Brown, Douglas L; Packard, Ann; Maturen, Katherine E; Deshmukh, Sandeep Prakash; Dudiak, Kika M; Henrichsen, Tara L; Meyer, Benjamin J; Poder, Liina; Sadowski, Elizabeth A; Shipp, Thomas D; Simpson, Lynn; Weber, Therese M; Zelop, Carolyn M; Glanc, Phyllis

2018-05-01

Vaginal bleeding is not uncommon in the first trimester of pregnancy. The majority of such patients will have a normal intrauterine pregnancy (IUP), a nonviable IUP, or an ectopic pregnancy. Ultrasound (US) is the primary imaging modality in evaluation of these patients. US, along with clinical observations and serum human chorionic gonadotropin levels, can usually distinguish these causes. Although it is important to diagnose ectopic pregnancies and nonviable IUPs, one should also guard against injury to normal pregnancies due to inappropriate treatment with methotrexate or surgical intervention. Less common causes of first trimester vaginal bleeding include gestational trophoblastic disease and arteriovenous malformations. Pulsed methods of Doppler US should generally be avoided in the first trimester when there is a normal, or a potentially normal, IUP. Once a normal IUP has been excluded, Doppler US may be useful when other diagnoses such as retained products of conception or arteriovenous malformations are suspected. MRI may occasionally be helpful as a problem-solving tool. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment. Copyright © 2018 American College of Radiology. Published by Elsevier Inc. All rights reserved.

Surgical management of brain-stem cavernous malformations: report of 137 cases.

PubMed

Wang, Chung-cheng; Liu, Ali; Zhang, Jun-ting; Sun, Bo; Zhao, Yuan-li

2003-06-01

With the improvement in neuroimaging and microsurgical techniques, brain stem cavernous malformations are no longer considered inoperable. Surgical indications for brainstem cavernoma are evolving, with better understanding of its natural history and decreasing surgical complications. During 1986 through 1998, a series of 137 patients (4 patients each with two brain stem lesions, total number of lesions, 141) with brain stem cavernous malformations were treated microsurgically at Beijing Neurosurgery Institute. The age distribution, lesion location, and clinical presentations were analyzed. The bleeding rate, surgical indications and microsurgical techniques were also discussed. In our series, 92 of 137 cases (67.2%) suffered more than one hemorrhage. Female patients had a higher risk of recurrent hemorrhage than that of male patients. Unlike cavernomas malformations from other locations, repeated hemorrhages from brain stem malformations are much more common and usually lead to new neurologic deficits. Among all 137 surgically treated patients, there was no operative mortality. Ninety-nine patients (72.3%) either improved or remained clinically stable postoperatively. The size of the cavernoma/hematoma does not necessarily correlate with the surgical result. While the acute hematoma can facilitate the surgical dissection, longer clinical history with multiple hemorrhages often makes total surgical resection difficult, partially because of the firmer capsule that may not shrink or collapse after hematoma is released. Pathologically those capsules were associated with more hyaline degeneration, fibrous proliferation and even calcifications. During the follow-up period between 0.5 to 11 years in 129 cases, 115 patients (89.2%) have been working, studying, or doing house work. Three patients (2.3%) suffered recurrent hemorrhages. Surgical indications of brain stem cavernoma include (1) progressive neurologic deficits; (2) overt acute or subacute hemorrhage on MRI either inside or outside cavernous malformations with mass effect; (3) cavernoma/hematoma reaching brainstem surface (<2 mm brain tissue between cavernoma /hematoma and pial surface). Grave clinical presentations like coma, respiratory, or cardiac instability are not surgical contraindications. Emergent surgical evacuation may lead to satisfactory outcome. Repeated hemorrhages will worsen the pre-existing neurologic deficits and possibly make the surgical dissections more difficult. Patients with minimum, stable neurologic deficits and lesion/hematoma that has not reached the brain stem surface should be followed conservatively.

Multiple developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy-Walker malformation cerebellar pathogenesis

PubMed Central

Blank, Marissa C.; Grinberg, Inessa; Aryee, Emmanuel; Laliberte, Christine; Chizhikov, Victor V.; Henkelman, R. Mark; Millen, Kathleen J.

2011-01-01

Heterozygous deletions encompassing the ZIC1;ZIC4 locus have been identified in a subset of individuals with the common cerebellar birth defect Dandy-Walker malformation (DWM). Deletion of Zic1 and Zic4 in mice produces both cerebellar size and foliation defects similar to human DWM, confirming a requirement for these genes in cerebellar development and providing a model to delineate the developmental basis of this clinically important congenital malformation. Here, we show that reduced cerebellar size in Zic1 and Zic4 mutants results from decreased postnatal granule cell progenitor proliferation. Through genetic and molecular analyses, we show that Zic1 and Zic4 have Shh-dependent function promoting proliferation of granule cell progenitors. Expression of the Shh-downstream genes Ptch1, Gli1 and Mycn was downregulated in Zic1/4 mutants, although Shh production and Purkinje cell gene expression were normal. Reduction of Shh dose on the Zic1+/−;Zic4+/− background also resulted in cerebellar size reductions and gene expression changes comparable with those observed in Zic1−/−;Zic4−/− mice. Zic1 and Zic4 are additionally required to pattern anterior vermis foliation. Zic mutant folial patterning abnormalities correlated with disrupted cerebellar anlage gene expression and Purkinje cell topography during late embryonic stages; however, this phenotype was Shh independent. In Zic1+/−;Zic4+/−;Shh+/−, we observed normal cerebellar anlage patterning and foliation. Furthermore, cerebellar patterning was normal in both Gli2-cko and Smo-cko mutant mice, where all Shh function was removed from the developing cerebellum. Thus, our data demonstrate that Zic1 and Zic4 have both Shh-dependent and -independent roles during cerebellar development and that multiple developmental disruptions underlie Zic1/4-related DWM. PMID:21307096

Treatment of arteriovenous malformations involving the hand.

PubMed

Park, Ui-Jun; Do, Young-Soo; Park, Kwang-Bo; Park, Hong-Suk; Kim, Young-Wook; Lee, Byung-Boong; Kim, Dong-Ik

2012-07-01

Hand arteriovenous malformations (AVMs) are difficult to treat because of the necessity to maintain function and the high complication rate of treatment. The purpose of this study was to review the treatment of hand AVMs with embolo/sclerotherapy and the surgical procedures at a single institute. We retrospectively reviewed the medical records and identified the patients who were referred to the vascular division owing to hand AVMs between 1995 and 2009. The lesions were classified according to their affected areas. The treatments used at the clinic included conservative treatment, amputation, and embolo/sclerotherapy. We investigated the clinical data and assessed the treatment results. Sixty-four patients were involved in this study. The median follow-up duration was 26.9 months (range: 3.5-141.8 months). The median age of the patients was 31.5 years (range: 0.3-75.0 years). All of the lesions were of the extratruncal (ET) form, and 37 cases (57.8%) were of the infiltrating type. Sixteen patients were treated conservatively. Primary amputation was performed in seven cases with previous complications such as ulcer, bleeding, or functional limitations. Embolo/sclerotherapy with ethanol was performed in 41 patients. Sixteen (39.0%) of them showed clinical improvement. The treatment of 20 (48.8%) of the 41 patients was interrupted owing to a variety of complications, and 2 (4.9%) of these patients failed with embolo/sclerotherapy. Skin necrosis was the major complication, and this occurred in 17 patients treated with embolo/sclerotherapy--14 of these cases were small and the skin necrosis healed with conservative treatment; 1 patient had autoamputation owing to necrosis; and 2 patients underwent amputation surgery owing to gangrene. The risk for skin necrosis was higher for the AVMs that involved the subcutaneous layer and the AVMs that extended diffusely (P = 0.021, P = 0.011). Seven neuropathic complications developed after embolo/sclerotherapy, and all of them were transient. The symptoms and characteristics of the lesions are important factors in devising a treatment plan for AVMs. AVM treatment, and especially embolo/sclerotherapy, is a long-term prospect, and it carries a potential risk for serious complications. After every treatment, the lesions must be reevaluated and new treatment plans must be made by the members of a multidisciplinary team. Copyright © 2012 Annals of Vascular Surgery Inc. Published by Elsevier Inc. All rights reserved.

Neurocutaneous melanosis in association with the Dandy-Walker complex, complicated by melanoma: report of a case and literature review.

PubMed

Mena-Cedillos, Carlos Alfredo; Valencia-Herrera, Adriana M; Arroyo-Pineda, Alma Iris; Salgado-Jiménez, M Angeles; Espinoza-Montero, Rubén; Martínez-Avalos, Armando Bernardo; Perales-Arroyo, Antonio

2002-01-01

Neurocutaneous melanosis is a rare congenital neurocutaneous syndrome in which benign and malignant melanocytic tumors of the leptomeninges with large or numerous congenital melanocytic nevi develop. The Dandy-Walker malformation occurs as a broad posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilation of the fourth ventricle communicating with the posterior fossa. Association of these entities is very unusual and only 10 previous reports were found in the literature. Our patient had multiple, medium-size to small melanocytic nevi present since birth. At 5 years of age the patient has intracranial pressure secondary to hydrocephalus. A diagnosis of Dandy-Walker malformation and suspected neurocutaneous melanosis was established after a skull computed tomography (CT) scan. Three months later the patient developed a right frontal tumor shown on the CT scan. The histologic finding was nevomelanocytic infiltration with strong pleomorphism. The tumor grew rapidly, producing neurogenic shock and death. The postmortem report indicated malignant melanoma.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Doll, D.C.; Ringenberg, Q.S.; Yarbro, J.W.

Although cancer during pregnancy is infrequent, its management is difficult for patients, their families, and their physicians. When termination of the pregnancy is unacceptable, decisions regarding the use of irradiation and chemotherapy are complicated by the well-known high risks of abortion and fetal malformation. This risk is concentrated in the first trimester and varies with the choice of chemotherapeutic agents or combinations of agents. There is only minimal evidence of increased risk of malformation or abortion in the second or third trimester. Recent progress in cancer therapy has made cure a reasonable goal, and for some malignant neoplasms, cure ismore » still possible even when initial therapy is modified or delayed. When cure is a reasonable goal, curative therapy should not be compromised by modification or delay. When treatment for cure or significant palliation is not possible, however, the goal should shift to protection of the fetus from damage by the injudicious use of teratogenic cancer therapy. This report will review the available data that may assist in these difficult decisions. 114 references.« less

Intralesional sclerotherapy for subcutaneous venous malformations in children.

PubMed

Uehara, Shuichiro; Osuga, Keigo; Yoneda, Akihiro; Oue, Takaharu; Yamanaka, Hiroaki; Fukuzawa, Masahiro

2009-08-01

Venous malformations (VMs) involve multiple anatomical spaces and encase critical neuromuscular structures, making surgical treatment difficult. Recently sclerotherapy has been suggested as the primary treatment for VMs instead of surgical intervention. This report represents eight cases of children with VMs treated with direct percutaneous injections of sclerosing agents, such as ethanol, polidocanol or ethanolamine oleate. All eight patients had large lesions (>3 cm) located on the head, foot, neck and face. Sclerotherapy was performed in an angiographic suite under general anesthesia. Prior to sclerotherapy, percutaneous phlebography was performed in order to visualize the dynamic situation inside the lesion and the draining flow into the adjacent venous vascular system. A 2-15 ml of sclerosing agent was injected into VM lesions under fluoroscopy. An evaluation by MRI examination showed that 6 out of 8 patients had remission, and alleviation of their symptoms without major complications, furthermore one of the lesions apparently disappeared. Intralesional sclerotherapy provides a simple, safe and effective treatment for VMs in the subcutaneous lesions in children.

Congenital multiple cranial neuropathies: Relevance of orofacial electromyography in infants.

PubMed

Renault, Francis; Flores-Guevara, Roberto; Baudon, Jean-Jacques; Vazquez, Marie-Paule

2015-11-01

The aim of this study was to assess diagnoses and outcomes of infants with 2 or more cranial neuropathies identified using orofacial electromyography (EMG). This retrospective study involved 90 patients. Diagnoses took into account clinical, radiological, and genetic data. EMG examined the orbicularis oculi, genioglossus, and levator veli palatini muscles, and blink responses. To evaluate outcome, neurological disability, respiratory complications, and feeding difficulties were recorded. The patients had malformation syndromes (59), encephalopathies (29), or no underlying disorders (2). Neurogenic EMG signs were detected in a mean of 4 muscles, reflecting a mean of 3 affected nerves. EMG identified a higher number of neuropathies than clinical examination alone (82 vs. 31, facial; 56 vs. 2, pharyngeal; 25 vs. 3, hypoglossal). Poor outcome and death were more frequent when EMG identified ≥4 affected nerves (P = 0.02). EMG highlights multiple cranial neuropathies that can be clinically silent in infants with malformation syndromes or encephalopathies. © 2015 Wiley Periodicals, Inc.

Direct intralesional ethanol sclerotherapy of extensive venous malformations with oropharyngeal involvement after a temporary tracheotomy in the head and neck: Initial results.

PubMed

Wang, Deming; Su, Lixin; Han, Yifeng; Wang, Zhenfeng; Zheng, Lianzhou; Li, Jichen; Fan, Xindong

2017-02-01

The purpose of this study was to evaluate the safety and efficacy of direct intralesional ethanol sclerotherapy for venous malformations (VMs) with oropharyngeal involvement after a temporary tracheotomy. A retrospective assessment was carried out to evaluate the efficacy of direct intralesional ethanol sclerotherapy on 21 consecutive patients presenting with extensive VMs involving the oropharynx in the head and neck and who had undergone tracheotomy. Of the 21 patients, 4 were treated once and 17 were treated from 2 to 5 times. The duration of follow-up was, on average, 9.1 months. Of the 21 patients, 7 (33.3%) had complete palliation, whereas the rest (66.7%) achieved partial palliation. Minor complications occurred in 12 of the 21 patients. Direct intralesional ethanol sclerotherapy after a temporary tracheotomy is a safe and effective treatment for extensive VMs involving oropharyngeal areas of the head and neck. © 2016 Wiley Periodicals, Inc. Head Neck 39: 288-296, 2017. © 2016 Wiley Periodicals, Inc.

Gorlin-Goltz syndrome: A rare case report.

PubMed

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-10-01

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts.

Fatal Airway Obstruction in a Man With a Cystic Hygroma.

PubMed

Wygant, Cassandra Maria; Cohle, Stephen D

2018-05-03

We describe a 24-year-old man with a cystic hygroma of the left side of the lower neck that led to sudden death. Cystic hygroma (cystic lymphangioma) is a congenital malformation of the lymphatic system. The patient, who had a tracheostomy because of airway obstruction from the cystic hygroma, was found dead with his tracheostomy tube on the floor next to him. Complications of cystic hygroma include infiltration of the neck causing airway obstruction, dysphagia, pain, and obstructive sleep apnea.

Mechanical removal of a refluxed Onyx piece from the middle cerebral artery using the Solitaire Stent: Technical report.

PubMed

Gungor, Dilara; Oğuz, Şükrü; Dinc, Hasan

2017-06-01

Onyx reflux into the parent artery is a rare and sometimes significant complication in the treatment of cerebral arteriovenous malformations (AVMs). We report a patient who presented with Onyx reflux into the M1 segment of the middle cerebral artery (MCA) during embolization of a right temporal AVM. The refluxed Onyx cast was successfully removed by a mechanical thrombectomy device using a self-expandable and fully retrievable Solitaire AB stent.

Mechanical removal of a refluxed Onyx piece from the middle cerebral artery using the Solitaire Stent: Technical report

PubMed Central

Oğuz, Şükrü; Dinc, Hasan

2017-01-01

Onyx reflux into the parent artery is a rare and sometimes significant complication in the treatment of cerebral arteriovenous malformations (AVMs). We report a patient who presented with Onyx reflux into the M1 segment of the middle cerebral artery (MCA) during embolization of a right temporal AVM. The refluxed Onyx cast was successfully removed by a mechanical thrombectomy device using a self-expandable and fully retrievable Solitaire AB stent. PMID:28604186

Motility, digestive and nutritional problems in Esophageal Atresia.

PubMed

Gottrand, Madeleine; Michaud, Laurent; Sfeir, Rony; Gottrand, Frédéric

2016-06-01

Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is a rare congenital malformation. Digestive and nutritional problems remain frequent in children with EA both in early infancy and at long-term follow-up. These patients are at major risk of presenting with gastroesophageal reflux and its complications, such as anastomotic strictures. Esophageal dysmotility is constant, and can have important consequences on feeding and nutritional status. Patients with EA need a systematic follow-up with a multidisciplinary team. Copyright © 2015 Elsevier Ltd. All rights reserved.

[Congenital valvular heart disease with high familial penetrance].

PubMed

Dattilo, Giuseppe; Lamari, Annalisa; Tulino, Viviana; Scarano, Michele; De Luca, Eleonora; Mutone, Daniela; Busacca, Paolo

2012-12-01

Bicuspid valve aortic (BVA) is one of the most common congenital malformations. Only 20% of patients preserves a normal valve function throughout life. There are sporadic and familial forms, the latter to autosomal dominant. We present a case of familiarity of BVA high penetrance. Patient with aortic stenosis by BVA, is the father of two children with BVA.

Bilateral intra-areolar polythelia: report of a rare case.

PubMed

Onesti, Maria Giuseppina; Anniboletti, Tommaso; Spinelli, Graziano; Meggiorini, Maria Letizia

2010-06-01

A very rare case of bilateral intra-areolar polythelia with two nipples in each breast is presented. There were no other associated malformations and the patient's family history was normal. Surgical correction was performed for cosmetic reasons at the patient's request using transposition flaps in a Z-plasty design. The aesthetic and functional results were satisfactory.

A deleterious effect associated with UNH159 is attenuated in twin embryos of an inbred line of tilapia (Oreochromis aureus)

USDA-ARS?s Scientific Manuscript database

Offspring of a highly inbred gynogenetic line of Oreochromis aureus displayed 12-fold increase in twinning rate compared to the outbred population. Asymmetric conjoined twins which consist of a normal embryo attached to a malformed-atrophic twin were frequently encountered in both gynogenetic (90.7%...

Loss of col8a1a function during zebrafish embryogenesis results in congenital vertebral malformations.

PubMed

Gray, Ryan S; Wilm, Thomas P; Smith, Jeff; Bagnat, Michel; Dale, Rodney M; Topczewski, Jacek; Johnson, Stephen L; Solnica-Krezel, Lilianna

2014-02-01

Congenital vertebral malformations (CVM) occur in 1 in 1000 live births and in many cases can cause spinal deformities, such as scoliosis, and result in disability and distress of affected individuals. Many severe forms of the disease, such as spondylocostal dystostosis, are recessive monogenic traits affecting somitogenesis, however the etiologies of the majority of CVM cases remain undetermined. Here we demonstrate that morphological defects of the notochord in zebrafish can generate congenital-type spine defects. We characterize three recessive zebrafish leviathan/col8a1a mutant alleles ((m531, vu41, vu105)) that disrupt collagen type VIII alpha1a (col8a1a), and cause folding of the embryonic notochord and consequently adult vertebral column malformations. Furthermore, we provide evidence that a transient loss of col8a1a function or inhibition of Lysyl oxidases with drugs during embryogenesis was sufficient to generate vertebral fusions and scoliosis in the adult spine. Using periodic imaging of individual zebrafish, we correlate focal notochord defects of the embryo with vertebral malformations (VM) in the adult. Finally, we show that bends and kinks in the notochord can lead to aberrant apposition of osteoblasts normally confined to well-segmented areas of the developing vertebral bodies. Our results afford a novel mechanism for the formation of VM, independent of defects of somitogenesis, resulting from aberrant bone deposition at regions of misshapen notochord tissue. Copyright © 2013 Elsevier Inc. All rights reserved.

Loss of col8a1a Function during Zebrafish Embryogenesis Results in Congenital Vertebral Malformations

PubMed Central

Gray, Ryan S.; Wilm, Thomas; Smith, Jeff; Bagnat, Michel; Dale, Rodney M.; Topczewski, Jacek; Johnson, Stephen L.; Solnica-Krezel, Lilianna

2014-01-01

Congenital vertebral malformations (CVM) occur in 1 in 1,000 live births and in many cases can cause spinal deformities, such as scoliosis, and result in disability and distress of affected individuals. Many severe forms of the disease, such as spondylocostal dystostosis, are recessive monogenic traits affecting somitogenesis, however the etiologies of the majority of CVM cases remain undetermined. Here we demonstrate that morphological defects of the notochord in zebrafish can generate congenital-type spine defects. We characterize three recessive zebrafish leviathan/col8a1a mutant alleles (m531, vu41, vu105) that disrupt collagen type VIII alpha1a (col8a1a), and cause folding of the embryonic notochord and consequently adult vertebral column malformations. Furthermore, we provide evidence that a transient loss of col8a1a function or inhibition of Lysyl oxidases with drugs during embryogenesis was sufficient to generate vertebral fusions and scoliosis in the adult spine. Using periodic imaging of individual zebrafish, we correlate focal notochord defects of the embryo with vertebral malformations (VM) in the adult. Finally, we show that bends and kinks in the notochord can lead to aberrant apposition of osteoblasts normally confined to well-segmented areas of the developing vertebral bodies. Our results afford a novel mechanism for the formation of VM, independent of defects of somitogenesis, resulting from aberrant bone deposition at regions of misshapen notochord tissue. PMID:24333517

Satisfactory treatment of a large connective tissue nevus with intralesional steroid injection.

PubMed

Saki, Nasrin; Dorostkar, Azadeh; Heiran, Alireza; Aslani, Fatemeh Sari

2018-01-01

Collagenoma is a type of connective tissue nevi, a rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas present as multiple or solitary, hereditary or sporadic, asymptomatic, skin-colored papules, nodules, and plaques with variable sizes, and are usually located on the trunk, arm, and back. Here, we report on a 14-year-old boy who presented with an isolated giant collagenoma of the frontal area that dramatically responded to intralesional triamcinolone acetonide.

Analysis of Maternal Risk Factors Associated With Congenital Vertebral Malformations

PubMed Central

Hesemann, Jennifer; Lauer, Emily; Ziska, Stephen; Noonan, Kenneth; Nemeth, Blaise; Scott-Schwoerer, Jessica; McCarty, Catherine; Rasmussen, Kristen; Goldberg, Jacob M.; Sund, Sarah; Eickhoff, Jens; Raggio, Cathleen L.; Giampietro, Philip F.

2014-01-01

Study Design A retrospective chart review of cases with congenital vertebral malformations (CVM) and controls with normal spine morphology. Objective To determine the relative contribution of maternal environmental factors (MEF) during pregnancy including maternal insulin dependent diabetes mellitus, valproic acid, alcohol, smoking, hyperthermia, twin gestation, assisted reproductive technology, in-vitro fertilization and maternal clomiphene usage to CVM development. Summary of Background Data Congenital vertebral malformations (CVM) represent defects in formation and segmentation of somites occurring with an estimated incidence of between 0.13–0.50 per 1000 live births. CVM may be associated with congenital scoliosis, Klippel-Feil syndrome, hemifacial microsomia and VACTERL syndromes, and represent significant morbidity due to pain and cosmetic disfigurement. Methods A multicenter retrospective chart review of 229 cases with CVM and 267 controls with normal spine morphology between the ages of 1–50 years was performed in order to obtain the odds ratio (OR) of MEF related to CVM among cases vs. controls. CVM due to an underlying syndrome associated with a known gene mutation or chromosome etiology were excluded. An imputation based analysis was performed in which subjects with no documentation of MEF history were treated as no maternal exposure.” Univariate and multivariate analysis was conducted to calculate the OR. Results Of the 229 total cases, 104 cases had single or multiple CVM without additional congenital malformations (CM) (Group 1) and 125 cases had single or multiple CVM and additional CM (Group 2). Nineteen percent of total cases had an identified MEF. The OR (95% CI, P-value) for MEF history for Group 1 was 6.0 (2.4–15.1, P<0.001) in the univariate analysis. The OR for MEF history in Group 2 was 9.1 (95%CI, P-value) (3.8–21.6, P<0.001) in the univariate analysis. The results were confirmed in the multivariate analysis, after adjusting for age, gender, and institution. Discussion These results support a hypothesis for an association between the above MEF during pregnancy and CVM and have implications for development of prevention strategies. Further prospective studies are needed to quantify association between CVM and specific MEF. PMID:23446706

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

PubMed

Jedraszak, Guillaume; Braun, Karine; Receveur, Aline; Decamp, Matthieu; Andrieux, Joris; Rabbind Singh, Amrathlal; Copin, Henri; Bremond-Gignac, Dominique; Mathieu, Michèle; Rochette, Jacques; Morin, Gilles

2015-10-01

Growth hormone deficiency affects roughly between one in 3000 and one in 4000 children with most instances of growth hormone deficiency being idiopathic. Growth hormone deficiency can also be associated with genetic diseases or chromosome abnormalities. Association of growth hormone deficiency together with hypothalamic-pituitary axis malformation and Cat-Eye syndrome is a very rare condition. We report a family with two brothers presenting with growth delay due to a growth hormone deficiency associated with a polymalformation syndrome. They both displayed pre-auricular pits and tags, imperforate anus and Duane retraction syndrome. Both parents and a third unaffected son displayed normal growth pattern. Cerebral MRI showed a hypothalamic-pituitary axis malformation in the two affected brothers. Cytogenetic studies revealed a type I small supernumerary marker chromosome derived from chromosome 22 resulting in a tetrasomy 22pter-22q11.21 characteristic of the Cat-Eye syndrome. The small supernumerary marker chromosome was present in the two affected sons and the mother in a mosaic state. Patients with short stature due to growth hormone deficiency should be evaluated for chromosomal abnormality. Family study should not be underestimated. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III

PubMed Central

Juric-Sekhar, Gordana; Kapur, Raj P.; Glass, Ian A.; Murray, Mitzi L.; Parnell, Shawn E.

2011-01-01

Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic types. MOPD type II is caused by pericentrin mutations, while types I and III appear to represent a distinct entity (MOPD I/III) with variably penetrant phenotypes and unknown genetic basis. The neuropathology of MOPD I/III is little understood, especially in comparison to other forms of lissencephaly. Here, we report postmortem brain findings in an 11-month-old female infant with MOPD I/III. The cerebral cortex was diffusely pachygyric, with a right parietal porencephalic lesion. Histologically, the cortex was abnormally thick and disorganized. Distinct malformations were observed in different cerebral lobes, as characterized using layer-specific neuronal markers. Frontal cortex was severely disorganized and coated with extensive leptomeningeal glioneuronal heterotopia. Temporal cortex had a relatively normal 6-layered pattern, despite cortical thickening. Occipital cortex was variably affected. The corpus callosum was extremely hypoplastic. Brainstem and cerebellar malformations were also present, as well as old necrotic foci. Findings in this case suggest that the cortical malformation in MOPD I/III is distinct from other forms of pachygyria–lissencephaly. PMID:20857301

Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.

PubMed

Leonardi, M L; Pai, G S; Wilkes, B; Lebel, R R

2001-08-15

Ritscher-Schinzel syndrome, also known as the 3C syndrome, is a rare, autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. Cardiac manifestations include ventricular septal defect, atrial septal defect, tetralogy of Fallot, double outlet right ventricle, hypoplastic left heart, aortic stenosis, pulmonic stenosis and other valvular anomalies. Central nervous system anomalies include Dandy-Walker malformation, cerebellar vermis hypoplasia and enlargement of the cisterna magna. Craniofacial abnormalities seen are cleft palate, ocular coloboma, prominent occiput, low-set ears, hypertelorism, down-slanting palpebral fissures, depressed nasal bridge and micrognathia. Dandy-Walker malformation, posterior fossa cyst, hydrocephalus and congenital heart defect are common malformations that may occur in isolation or as a part of many syndromes. Accurate genetic diagnosis and counseling require detailed analysis of the external as well as the internal anatomy and knowledge of the relative frequencies of various malformations in syndromes that may have overlapping clinical signs. We have had the opportunity recently to study four cases of the Ritscher-Schinzel syndrome. A review of all reported cases is presented and an attempt made to define the minimum diagnostic criteria for the Ritscher-Schinzel syndrome. Of the nine craniofacial anomalies commonly reported as a part of the Ritscher-Schinzel syndrome, we consider two i.e., cleft palate and ocular coloboma, to be readily and objectively ascertainable. The other seven craniofacial traits, however, are somewhat subjective, require expert interpretation and are sometimes difficult to ascertain in a newborn or stillborn fetus. These are prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge and micrognathia. At least four of these were present in all cases that had a secure diagnosis of the Ritscher-Schinzel syndrome. Thus, the criteria we propose to establish the diagnosis of the Ritscher-Schinzel syndrome in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia. Copyright 2001 Wiley-Liss, Inc.

Ischaemic Strokes in Patients with Pulmonary Arteriovenous Malformations and Hereditary Hemorrhagic Telangiectasia: Associations with Iron Deficiency and Platelets

PubMed Central

Shovlin, Claire L.; Chamali, Basel; Santhirapala, Vatshalan; Livesey, John A.; Angus, Gillian; Manning, Richard; Laffan, Michael A.; Meek, John; Tighe, Hannah C.; Jackson, James E.

2014-01-01

Background Pulmonary first pass filtration of particles marginally exceeding ∼7 µm (the size of a red blood cell) is used routinely in diagnostics, and allows cellular aggregates forming or entering the circulation in the preceding cardiac cycle to lodge safely in pulmonary capillaries/arterioles. Pulmonary arteriovenous malformations compromise capillary bed filtration, and are commonly associated with ischaemic stroke. Cohorts with CT-scan evident malformations associated with the highest contrast echocardiographic shunt grades are known to be at higher stroke risk. Our goal was to identify within this broad grouping, which patients were at higher risk of stroke. Methodology 497 consecutive patients with CT-proven pulmonary arteriovenous malformations due to hereditary haemorrhagic telangiectasia were studied. Relationships with radiologically-confirmed clinical ischaemic stroke were examined using logistic regression, receiver operating characteristic analyses, and platelet studies. Principal Findings Sixty-one individuals (12.3%) had acute, non-iatrogenic ischaemic clinical strokes at a median age of 52 (IQR 41–63) years. In crude and age-adjusted logistic regression, stroke risk was associated not with venous thromboemboli or conventional neurovascular risk factors, but with low serum iron (adjusted odds ratio 0.96 [95% confidence intervals 0.92, 1.00]), and more weakly with low oxygen saturations reflecting a larger right-to-left shunt (adjusted OR 0.96 [0.92, 1.01]). For the same pulmonary arteriovenous malformations, the stroke risk would approximately double with serum iron 6 µmol/L compared to mid-normal range (7–27 µmol/L). Platelet studies confirmed overlooked data that iron deficiency is associated with exuberant platelet aggregation to serotonin (5HT), correcting following iron treatment. By MANOVA, adjusting for participant and 5HT, iron or ferritin explained 14% of the variance in log-transformed aggregation-rate (p = 0.039/p = 0.021). Significance These data suggest that patients with compromised pulmonary capillary filtration due to pulmonary arteriovenous malformations are at increased risk of ischaemic stroke if they are iron deficient, and that mechanisms are likely to include enhanced aggregation of circulating platelets. PMID:24586400

Pregnancy with epilepsy: obstetric and neonatal outcome of a controlled study

PubMed Central

Mawer, G.; Briggs, M.; Baker, G.A.; Bromley, R.; Coyle, H.; Eatock, J.; Kerr, L; Kini, U.; Kuzmyshcheva, L.; Lucas, S.B.; Wyatt, L.; Clayton-Smith, J.

2010-01-01

Purpose to determine the influence of epilepsy and its treatment on pregnancy and its outcome. Design controlled, observational study. Setting National Health Service maternity hospitals in Liverpool and Manchester regions. Population 277 women with epilepsy (WWE) and 315 control women. Methods WWE were recruited from antenatal clinics. Controls were matched for age and parity but not gestational age. Information was obtained by interview and from clinical records. Main Outcome Measures: obstetric complications, mode of delivery, condition of newborn. Results Distribution of epilepsy syndromes was similar to previous surveys. Most WWE (67%) received monotherapy with carbamazepine, sodium valproate or lamotrigine. Half WWE had no seizures during pregnancy but 34% had tonic clonic seizures. Seizure related injuries were infrequent. Pregnancies with obstetric complications were increased in women with treated epilepsy (WWTE 45%, controls 33%; p = 0.01). Most had normal vaginal delivery (WWTE 63%, controls 61%; p = 0.65). Low birth weight was not increased (WWTE 6.2%, controls 5.2%; p = 0.69). There were more major congenital malformations (MCM) (WWTE 6.6%, controls 2.1%; p = 0.02) and fetal/infant deaths (WWTE 2.2%, controls 0.3%; p = 0.09). Amongst monotherapies MCM prevalence was highest with valproate (11.3%; p = 0.005). Lamotrigine (5.4%; p = 0.23) and carbamazepine (3.0%; p = 0.65) were closer to controls (2.1%). There was no association between MCM and dose of folic acid preconception. Conclusion MCM were more prevalent in the babies of WWTE particularly amongst those receiving sodium valproate. PMID:20036166

Maternal obesity and congenital heart defects: a population-based study123

PubMed Central

Mills, James L; Troendle, James; Conley, Mary R; Carter, Tonia; Druschel, Charlotte M

2010-01-01

Background: Obesity affects almost one-third of pregnant women and causes many complications, including neural tube defects. It is not clear whether the risk of congenital heart defects, the most common malformations, is also increased. Objective: This study was conducted to determine whether obesity is associated with an increased risk of congenital heart defects. Design: A population-based, nested, case-control study was conducted in infants born with congenital heart defects and unaffected controls from the cohort of all births (n = 1,536,828) between 1993 and 2003 in New York State, excluding New York City. The type of congenital heart defect, maternal body mass index (BMI; in kg/m2), and other risk factors were obtained from the Congenital Malformations Registry and vital records. Mothers of 7392 congenital heart defect cases and 56,304 unaffected controls were studied. Results: All obese women (BMI ≥ 30) were significantly more likely than normal-weight women (BMI: 19–24.9) to have children with a congenital heart defect [odds ratio (OR): 1.15; 95% CI: 1.07, 1.23; P < 0.0001]. Overweight women were not at increased risk (OR: 1.00; 95% CI: 0.94, 1.06). The risk in morbidly obese women (BMI ≥ 40) was higher (OR: 1.33; 95% CI: 1.15, 1.54; P = 0.0001) than that in obese women with a BMI of 30–39.9 (OR: 1.11; 95% CI: 1.04, 1.20; P = 0.004). There was a highly significant trend of increasing OR for congenital heart defects with increasing maternal obesity (P < 0.0001). The offspring of obese women had significantly higher ORs for atrial septal defects, hypoplastic left heart syndrome, aortic stenosis, pulmonic stenosis, and tetralogy of Fallot. Conclusions: Obese, but not overweight, women are at significantly increased risk of bearing children with a range of congenital heart defects, and the risk increases with increasing BMI. Weight reduction as a way to reduce risk should be investigated. PMID:20375192

Central Diabetes Insipidus in Infancy With or Without Hypothalamic Adipsic Hypernatremia Syndrome: Early Identification and Outcome.

PubMed

Djermane, Adel; Elmaleh, Monique; Simon, Dominique; Poidvin, Amélie; Carel, Jean-Claude; Léger, Juliane

2016-02-01

Neonatal central diabetes insipidus (CDI) with or without adipsia is a very rare complication of various complex hypothalamic disorders. It is associated with greater morbidity and a high risk of developing both hypernatremia and hyponatremia, due to the condition itself or secondary to treatment with vasopressin analogs or fluid administration. Its outcomes have yet to be evaluated. To investigate the clinical outcomes of patients with neonatal-onset CDI or adipsic CDI with hypernatremia. All patients diagnosed with neonatal CDI in a university hospital-based observational study and followed between 2005 and 2015 were included and analyzed retrospectively. The various causes of CDI were grouped. Clinical outcome and comorbidities were analyzed. Ten of the 12 patients had an underlying condition with brain malformations: optic nerve hypoplasia (n = 3), septo-optic dysplasia (n = 2), semilobar holoprosencephaly (n = 1), ectopic neurohypophysis (n = 3), and unilateral absence of the internal carotid artery (n = 1). The other two were idiopathic cases. During the median follow-up period of 7.8 (4.9-16.8) years, all but one patient displayed anterior pituitary deficiency. Transient CDI was found in three (25%) patients for whom a posterior pituitary hyperintense signal was observed with (n = 2) and without (n = 1) structural hypothalamic pituitary abnormalities, and with no other underlying cerebral malformations. Patients with permanent CDI with persistent adipsia (n = 4) and without adipsia (n = 5) required adequate fluid intake and various doses of desamino-D-arginine-8-vasopressin. Those with adipsia were more likely to develop hypernatremia (45 vs 33%), hyponatremia (16 vs 4%) (P < .0001), and severe neurodevelopmental delay (P < .05) than those without adipsia. Comorbidities were common. The underlying cause remains unknown at the age of 23 years for one patient with CDI and normal thirst. Neonatal CDI may be transient or permanent. These vulnerable patients have high rates of comorbidity and require careful monitoring.

Prenatal development of the normal human vertebral corpora in different segments of the spine.

PubMed

Nolting, D; Hansen, B F; Keeling, J; Kjaer, I

1998-11-01

Vertebral columns from 13 normal human fetuses (10-24 weeks of gestation) that had aborted spontaneously were investigated as part of the legal autopsy procedure. The investigation included spinal cord analysis. To analyze the formation of the normal human vertebral corpora along the spine, including the early location and disappearance of the notochord. Reference material on the development of the normal human vertebral corpora is needed for interpretation of published observations on prenatal malformations in the spine, which include observations of various types of malformation (anencephaly, spina bifida) and various genotypes (trisomy 18, 21 and 13, as well as triploidy). The vertebral columns were studied by using radiography (Faxitron X-ray apparatus, Faxitron Model 43,855, Hewlett Packard) in lateral, frontal, and axial views and histology (decalcification, followed by toluidine blue and alcian blue staining) in and axial view. Immunohistochemical marking with Keratin Wide Spectrum also was done. Notochordal tissue (positive on marking with Keratin Wide Spectrum [DAKO, Denmark]) was located anterior to the cartilaginous body center in the youngest fetuses. The process of disintegration of the notochord and the morphology of the osseous vertebral corpora in the lumbosacral, thoracic, and cervical segments are described. Marked differences appeared in axial views, which were verified on horizontal histologic sections. Also, the increase in size was different in the different segments, being most pronounced in the thoracic and upper lumbar bodies. The lower thoracic bodies were the first to ossify. The morphologic changes observed by radiography were verified histologically. In this study, normal prenatal standards were established for the early development of the vertebral column. These standards can be used in the future--for evaluation of pathologic deviations in the human vertebral column in the second trimester.

Cerebrospinal fluid velocity amplitudes within the cerebral aqueduct in healthy children and patients with Chiari I malformation.

PubMed

Bapuraj, J Rajiv; Londy, Frank J; Delavari, Nader; Maher, Cormac O; Garton, Hugh J L; Martin, Bryn A; Muraszko, Karin M; Ibrahim, El-Sayed H; Quint, Douglas J

2016-08-01

To assess the effects of cerebrospinal fluid (CSF) bidirectional motion in Chiari malformation type I (CMI), we monitored CSF velocity amplitudes on phase contrast MRI (PC-MRI) in patients before and after surgery; and in healthy volunteers. 10 pediatric volunteers and 10 CMI patients participated in this study. CMI patients underwent PC-MRI scans before and approximately 14 months following surgery. Two parameters-amplitude of mean velocity (AMV) and amplitude of peak velocity (APV) of CSF-were derived from the data. Measurements were made at the mid-portion of the cerebral aqueduct, and anterior and posterior compartments of the spinal canal at the craniovertebral junction (CVJ). AMV and APV within the cerebral aqueduct were greater in preoperative assessments of the CMI patients compared to normal volunteers. Statistical significance was noted when comparing aqueductal AMV between the preoperative values and normal controls (P = 0.03), and before and after surgery in the CMI patients (P = 0.02). Lower values of AMV (P = 0.02) were noted in the anterior CVJ compartment in the patients before and after surgery when compared to the normal volunteers. There were no significant correlations (P = 0.06) noted for the APV at the CVJ between the normal control and patients, before or after surgery. In pediatric CMI patients, AMV for CSF within the cerebral aqueduct and anterior CVJ subarachnoid space are significantly elevated preoperatively and normalize following surgery. Given the biphasic CSF motion, measuring amplitude accounts for cranial and caudal flow. It may offer an alternative parameter to assess postsurgical outcome. J. Magn. Reson. Imaging 2016;44:463-470. © 2016 Wiley Periodicals, Inc.

Depression During Pregnancy and Postpartum.

PubMed

Becker, Madeleine; Weinberger, Tal; Chandy, Ann; Schmukler, Sarah

2016-03-01

Depression is a common complication of pregnancy and the postpartum period. There are multiple risk factors for peripartum mood disorders, most important of which is a prior history of depression. Both depression and antidepressant medications confer risk upon the infant. Maternal depression has been associated with preterm birth, low birth weight, fetal growth restriction, and postnatal cognitive and emotional complications. Antidepressant exposure has been associated with preterm birth, reductions in birth weight, persistent pulmonary hypertension, and postnatal adaptation syndrome (PNAS) as well as a possible connection with autism spectrum disorder. Paroxetine has been associated with cardiac malformations. Most antidepressant medications are excreted in low levels in breast milk and are generally compatible with breastfeeding. The use of antidepressants during pregnancy and postpartum must be weighed against the risk of untreated depression in the mother.

Transcatheter arterial embolization with ethylene vinyl alcohol copolymer (Onyx) for the treatment of hemorrhage due to uterine arteriovenous malformations.

PubMed

Barral, P-A; Saeed-Kilani, M; Tradi, F; Dabadie, A; Izaaryene, J; Soussan, J; Bartoli, J-M; Vidal, V

2017-05-01

The purpose of this study was to evaluate the effectiveness of ethylene vinyl alcohol copolymer (Onyx) as a single embolic agent for percutaneous arterial treatment of hemorrhage due to uterine arteriovenous malformations (AVMs). Twelve women (mean age, 33 years) with metrorrhagia due to uterine AVMs who were treated by percutaneous arterial embolization using Onyx as a single embolic agent were retrospectively included. The diagnosis of uterine AVM was suggested by pelvic ultrasound and/or magnetic resonance imaging findings and further confirmed by angiography. Clinical files and angiographic examinations were reviewed for angiographic findings, technical and clinical success, procedure complication and further pregnancies. Clinical success was defined by absence of metrorrhagia at 1 month following embolization. Sixteen arterial embolization procedures were performed. Angiographically, 6 women had high flow AVM and 6 had low flow AVM. The rate of technical and clinical success was 92% (11/12 patients). One woman with early repeat hemorrhage underwent two embolization procedures and further hysterectomy. No severe complications were observed after embolization. Three women (3/12; 25%) became pregnant following embolization including one full term pregnancy. In women with metrorrhagia due to AVM, arterial embolization with Onyx is effective and safe. Additional research is needed to confirm the possibility of future pregnancy after Onyx embolization. Copyright © 2016 Éditions françaises de radiologie. Published by Elsevier Masson SAS. All rights reserved.

Complications Following Linear Accelerator Based Stereotactic Radiation for Cerebral Arteriovenous Malformations

DOE Office of Scientific and Technical Information (OSTI.GOV)

Skjoth-Rasmussen, Jane, E-mail: jane@skjoeth-rasmussen.d; Roed, Henrik; Ohlhues, Lars

2010-06-01

Purpose: Primarily, gamma knife centers are predominant in publishing results on arteriovenous malformations (AVM) treatments including reports on risk profile. However, many patients are treated using a linear accelerator-most of these at smaller centers. Because this setting is different from a large gamma knife center, the risk profile at Linac departments could be different from the reported experience. Prescribed radiation doses are dependent on AVM volume. This study details results from a medium sized Linac department center focusing on risk profiles. Method and Materials: A database was searched for all patients with AVMs. We included 50 consecutive patients with amore » minimum of 24 months follow-up (24-51 months). Results: AVM occlusion was verified in 78% of patients (39/50). AVM occlusion without new deficits (excellent outcome) was obtained in 44%. Good or fair outcome (AVM occlusion with mild or moderate new deficits) was seen in 30%. Severe complications after AVM occlusion occurred in 4% with a median interval of 15 months after treatment (range, 1-26 months). Conclusions: We applied an AVM grading score developed at the Mayo Clinic to predict probable outcome after radiosurgery in a large patient population treated with Gamma knife. A cutoff above and below a score of 1.5 could not discriminate between the likelihood of having an excellent outcome (approximately 45%). The chance of having an excellent or good outcome was slightly higher in patients with an AVM score below 1.5 (64% vs. 57%).« less

Complications following linear accelerator based stereotactic radiation for cerebral arteriovenous malformations.

PubMed

Skjøth-Rasmussen, Jane; Roed, Henrik; Ohlhues, Lars; Jespersen, Bo; Juhler, Marianne

2010-06-01

Primarily, gamma knife centers are predominant in publishing results on arteriovenous malformations (AVM) treatments including reports on risk profile. However, many patients are treated using a linear accelerator-most of these at smaller centers. Because this setting is different from a large gamma knife center, the risk profile at Linac departments could be different from the reported experience. Prescribed radiation doses are dependent on AVM volume. This study details results from a medium sized Linac department center focusing on risk profiles. A database was searched for all patients with AVMs. We included 50 consecutive patients with a minimum of 24 months follow-up (24-51 months). AVM occlusion was verified in 78% of patients (39/50). AVM occlusion without new deficits (excellent outcome) was obtained in 44%. Good or fair outcome (AVM occlusion with mild or moderate new deficits) was seen in 30%. Severe complications after AVM occlusion occurred in 4% with a median interval of 15 months after treatment (range, 1-26 months). We applied an AVM grading score developed at the Mayo Clinic to predict probable outcome after radiosurgery in a large patient population treated with Gamma knife. A cutoff above and below a score of 1.5 could not discriminate between the likelihood of having an excellent outcome (approximately 45%). The chance of having an excellent or good outcome was slightly higher in patients with an AVM score below 1.5 (64% vs. 57%). Copyright 2010 Elsevier Inc. All rights reserved.

Malformation of stria vascularis in the developing inner ear of the German waltzing guinea pig.

PubMed

Jin, Zhe; Mannström, Paula; Järlebark, Leif; Ulfendahl, Mats

2007-05-01

Auditory function and cochlear morphology have previously been described in the postnatal German waltzing guinea pig, a strain with recessive deafness. In the present study, cochlear histopathology was further investigated in the inner ear of the developing German waltzing guinea pig (gw/gw). The lumen of the cochlear duct diminished progressively from embryonic day (E) 35 to E45 and was absent at E50 because of the complete collapse of Reissner's membrane onto the hearing organ. The embryonic stria vascularis, consisting of a simple epithelium, failed to transform into the complex trilaminar tissue seen in normal animals and displayed signs of degeneration. Subsequent degeneration of the sensory epithelium was observed from E50 and onwards. Defective and insufficient numbers of melanocytes were observed in the developing gw/gw stria vascularis. A gene involved in cochlear melanocyte development, Pax3, was markedly reduced in lateral wall tissue of the cochlea of both E40 and adult gw/gw individuals, whereas its expression was normal in the skin and diaphragm muscle of adult gw/gw animals. The Pax3 gene may thus be involved in the pathological process but is unlikely to be the primary mutated gene in the German waltzing guinea pig. TUNEL assay showed no signs of apoptotic cell death in the developing stria vascularis of this type of guinea pig. Thus, malformation of the stria vascularis appears to be the primary defect in the inner ear of the German waltzing guinea pig. Defective and insufficient numbers of melanocytes might migrate to the developing stria vascularis but fail to provide the proper support for the subsequent development of marginal and basal cells, thereby leading to stria vascularis malformation and dysfunction in the inner ear of the German waltzing guinea pig.

Appearance of fetal posterior fossa at 11-14 weeks in fetuses with Dandy-Walker malformation or chromosomal anomalies.

PubMed

Volpe, P; Contro, E; Fanelli, T; Muto, B; Pilu, G; Gentile, M

2016-06-01

To describe the sonographic appearance of fetal posterior fossa anatomy at 11-14 weeks of pregnancy and to assess the outcome of fetuses with increased intracranial translucency (IT) and/or brainstem-to-occipital bone (BSOB) diameter. Reference ranges for brainstem (BS), IT and cisterna magna (CM) measurements, BSOB diameter and the BS : BSOB ratio were obtained from the first-trimester ultrasound examination of 233 fetuses with normal postnatal outcome (control group). The intraobserver and interobserver variability of measurements were investigated using 73 stored ultrasound images. In addition, a study group of 17 fetuses with increased IT and/or BSOB diameter was selected to assess outcome. No significant intraobserver or interobserver variability was found for any measurement in the control group. In the study group, IT was increased in all cases and BSOB diameter was above the 95(th) centile of the calculated normal range in all but two (88%) cases. In 13/17 study cases, only two of the three posterior brain spaces were recognized on ultrasound. These 13 fetuses had a larger BSOB diameter than did the four cases that showed all three posterior brain spaces, and had severe associated anomalies including Dandy-Walker malformation (DWM) and/or chromosomal anomalies. Visualization of the fetal posterior fossa anatomy at 11-14 weeks' gestation is feasible. Increased fluid in the posterior brain at 11-14 weeks, particularly in the case of non-visibility of the septation that divides the future fourth ventricle from the CM, is an important risk factor for cystic posterior fossa malformations, in particular DWM, and/or chromosomal aberrations. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Holoprosencephaly with caudal dysplasia. Pseudo-trisomy 13 or a distinct entity?

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hicks, R.P.B.; Aylsworth, A.S.; Timmons, M.C.

1994-09-01

We have studied three chromosomally normal patients with multiple anomalies that include holoprosencephaly and caudal dysplasia. Each has features found in patients with pseudo-trisomy 13, though each lacks malformations common in that syndrome. Patients 1 and 2 did not have polydactyly and patients 2 and 3 had no congenital heart malformation. Patient 1 is also unusual in that he does not have typical holoprosencephalic facies and is alive at age 25 months. We have also identified two other similar patients in the London Dysmorphology Database, each of which had holoprosencephaly, congenital heart malformation, and imperforate anus. Isolated caudal dysplasia andmore » holoprosencephaly are both causally heterogeneous. They have been reported together rarely in patients with several different syndromes including chromosomal abnormalities, monogenic syndromes, teratogenic insults, and syndromes of unknown cause. Over thirty cases of {open_quotes}pseudo-trisomy 13{close_quotes} have now been reported and eight of these have had features of caudal dysplasia. There have been four with imperforate anus or anal stenosis, one with lumbosacral vertebral anomaly, and three others with bilateral renal agenesis or hypoplasia. Based on our patients and this review of other reported and unreported cases, we suggest that caudal dysplasia may be a significant clinical feature of pseudo-trisomy 13. Alternatively, holoprosencephaly and caudal dysplasia with a normal karyotype may represent a similar though distinct entity. Some may have submicroscopic chromosomal deletions. Molecular studies of regions known to be associated with holoprosencephaly are currently in progress on tissue from Patient 1. We hope these observations will stimulate reports of similarly affected patients to allow better definition of pseudo-trisomy 13 and other overlap syndromes.« less

Korean Database of Cerebral Palsy: A Report on Characteristics of Cerebral Palsy in South Korea

PubMed Central

2017-01-01

Objective To introduce the Korean Database of Cerebral Palsy (KDCP) and to provide the first report on characteristics of subjects with cerebral palsy (CP). Methods The KDCP is a nationwide database of subjects with CP, which includes a total of 773 subjects. Characteristics such as demography, birth history, onset and type of CP, brain magnetic resonance imaging (MRI) findings, functional ability and accompanying impairments, were extracted and analyzed. Results Preterm delivery and low birth weight were found in 59.51% and 60.28% of subjects, respectively. Postnatally acquired CP was 15.3%. The distribution of CP was 87.32%, 5.17%, and 1.81% for spastic, dyskinetic, and ataxic types, respectively. Functional ability was the worst in dyskinetic CP, as compared to other types of CP. Speech-language disorder (43.9%), ophthalmologic impairment (32.9%), and intellectual disability (30.3%) were the three most common accompanying impairments. The number of accompanying impairments was elevated in subjects with preterm birth and low birth weight. Brain MRI showed normal findings, malformations, and non-malformations in 10.62%, 9.56%, and 77.35% of subjects, respectively. Subjects with normal MRI findings had better functional ability than subjects with other MRI findings. MRI findings of a non-malformation origin, such as periventricular leukomalacia, were more common in subjects with preterm birth and low birth weight. Conclusion The KDCP and its first report are introduced in this report, wherein the KDCP established agreement on terminologies of CP. This study added information on the characteristics of subjects with CP in South Korea, which can now be compared to those of other countries and ethnicities. PMID:28971049

Size and cell number of the utricle in kinetotically swimming fish: a parabolic aircraft flight study

NASA Astrophysics Data System (ADS)

Bäuerle, A.; Anken, R. H.; Hilbig, R.; Baumhauer, N.; Rahmann, H.

2004-01-01

Humans taking part in parabolic aircraft flights (PAFs) may suffer from space motion sickness (SMS, a kinetosis). Since it has been repeatedly shown earlier that some fish of a given batch also reveal a kinetotic behavior during PAFs (especially so-called spinning movements and looping responses) and due to the homology of the vestibular apparatus among all vertebrates, fish can be used as model systems to investigate the origin of susceptibility to motion sickness. Therefore, we examined the utricular maculae (they are responsible for the internalization of gravity in teleosteans) of fish swimming kinetotically at microgravity in comparison with animals from the same batch who swam normally. On the histological level, it was found that the total number of both sensory and supporting cells of the utricular maculae did not differ between kinetotic animals as compared to normally swimming fish. Cell density (sensory and supporting cells/100 μm 2), however, was reduced in kinetotic animals ( p < 0.0001), which seemed to be due to malformed epithelial cells (increase in cell size) of the kinetotic specimens. Susceptibility to kinetoses may therefore originate in malformed sensory epithelia.

Incomplete development of the spleen and the deformity in the chimeras between asplenic mutant (Dominant hemimelia) and normal mice.

PubMed

Suto, J; Wakayama, T; Imamura, K; Goto, S; Fukuta, K

1995-08-01

The semidominant gene Dh (Dominant hemimelia) induces skeletal and visceral abnormalities of various degrees and failure of the spleen in mice. The homozygous individual (Dh/Dh) seems to be lethal. The present experiment was designed to investigate the ability Dh cells to form a spleen and the genesis of the hind limb malformations by Dh/Dh and Dh/+ cells in chimeric mice. The Dh/Dh and Dh/+ embryos were produced in the F2 progeny of a cross between inbred strains of Dh/+ and DDD mice. They were aggregated with C3H/He or C57BL/6 embryos to make chimeras. Identification of Dh/Dh or Dh/+ embryos was carried out by Pep-3, and chimerism was analyzed by Gpi-1. Of 25 chimeras carrying the Dh gene, four mice formed a small spleen, two mice had a vestigial spleen, and the others no spleen. The tissues of the incompletely developed spleens were normal histologically and Dh cells were involved in the tissues of the spleen. In the chimeric mice, hindlimb malformation by the Dh gene was reduced in severity and the lethality of the homozygote (Dh/Dh) was rescued.

Dynamic contrast-enhanced MRI evaluation of cerebral cavernous malformations.

PubMed

Hart, Blaine L; Taheri, Saeid; Rosenberg, Gary A; Morrison, Leslie A

2013-10-01

The aim of this study is to quantitatively evaluate the behavior of CNS cavernous malformations (CCMs) using a dynamic contrast-enhanced MRI (DCEMRI) technique sensitive for slow transfer rates of gadolinium. The prospective study was approved by the institutional review board and was HIPPA compliant. Written informed consent was obtained from 14 subjects with familial CCMs (4 men and 10 women, ages 22-76 years, mean 48.1 years). Following routine anatomic MRI of the brain, DCEMRI was performed for six slices, using T1 mapping with partial inversion recovery (TAPIR) to calculate T1 values, following administration of 0.025 mmol/kg gadolinium DTPA. The transfer rate (Ki) was calculated using the Patlak model, and Ki within CCMs was compared to normal-appearing white matter as well as to 17 normal control subjects previously studied. All subjects had typical MRI appearance of CCMs. Thirty-nine CCMs were studied using DCEMRI. Ki was low or normal in 12 lesions and elevated from 1.4 to 12 times higher than background in the remaining 27 lesions. Ki ranged from 2.1E-6 to 9.63E-4 min(-1), mean 3.55E-4. Normal-appearing white matter in the CCM patients had a mean Ki of 1.57E-4, not statistically different from mean WM Ki of 1.47E-4 in controls. TAPIR-based DCEMRI technique permits quantifiable assessment of CCMs in vivo and reveals considerable differences not seen with conventional MRI. Potential applications include correlation with biologic behavior such as lesion growth or hemorrage, and measurement of drug effects.

Dynamic Contrast-Enhanced MRI Evaluation of Cerebral Cavernous Malformations

PubMed Central

Hart, B. L.; Taheri, S.; Rosenberg, G. A.; Morrison, L. A.

2013-01-01

The aim of this study is to quantitatively evaluate the behavior of CNS cavernous malformations (CCMs) using a dynamic contrast-enhanced MRI (DCEMRI) technique sensitive for slow transfer rates of gadolinium. The prospective study was approved by the institutional review board and was HIPPA compliant. Written informed consent was obtained from 14 subjects with familial CCMs (4 men and 10 women, ages 22–76 years, mean 48.1 years). Following routine anatomic MRI of the brain, DCEMRI was performed for six slices, using T1 mapping with partial inversion recovery (TAPIR) to calculate T1 values, following administration of 0.025 mmol/kg gadolinium DTPA. The transfer rate (Ki) was calculated using the Patlak model, and Ki within CCMs was compared to normal-appearing white matter as well as to 17 normal control subjects previously studied. All subjects had typical MRI appearance of CCMs. Thirty-nine CCMs were studied using DCEMRI. Ki was low or normal in 12 lesions and elevated from 1.4 to 12 times higher than background in the remaining 27 lesions. Ki ranged from 2.1E–6 to 9.63E–4 min−1, mean 3.55E–4. Normal-appearing white matter in the CCM patients had a mean Ki of 1.57E–4, not statistically different from mean WM Ki of 1.47E–4 in controls. TAPIR-based DCEMRI technique permits quantifiable assessment of CCMs in vivo and reveals considerable differences not seen with conventional MRI. Potential applications include correlation with biologic behavior such as lesion growth or hemorrage, and measurement of drug effects. PMID:24323376

Is "treat your child normally" helpful advice for parents of survivors of treatment of hypoplastic left heart syndrome?

PubMed

Rempel, Gwen R; Harrison, Margaret J; Williamson, Deanna L

2009-04-01

Developing technology affords children with complex congenitally malformed hearts a chance for survival. Parents gratefully pursue life-saving options on behalf of their children, despite the risks to the life of their child, and uncertainty about outcomes. Little is known about how mothers and fathers experience parenting a child whose new state as a survivor may include less than optimal developmental sequels. Our study involved multiple interactive interviews with 9 mothers and 7 fathers of infants and preschool children with hypoplastic left heart syndrome who had survived the Norwood surgical approach. Qualitative methodology included grounded theory methods of simultaneous collection and analysis of data, and we used open and selective coding of transcribed interviews. Parents used normalization in the context of uncertainty regarding the ongoing survival of their child. Parents described their underweight children as being on their own growth curve, and viewed their developmental progress, however delayed, as reason for celebration, as they had been prepared for their child to die. There is growing evidence that children with congenitally malformed hearts who require surgical intervention during the first year of life may experience developmental delay. The use of normalization by their parents may be effective in decreasing their worry regarding the uncertain future faced by their child, but may negatively affect the developmental progress of the child if they do not seek resources to assist development. Advice from paediatric specialists for parents to view their children as normal needs to be balanced with assistance for parents to access services to support optimal growth and development of their child.

Spatiotemporal Fractionation Schemes for Irradiating Large Cerebral Arteriovenous Malformations

DOE Office of Scientific and Technical Information (OSTI.GOV)

Unkelbach, Jan, E-mail: junkelbach@mgh.harvard.edu; Bussière, Marc R.; Chapman, Paul H.

2016-07-01

Purpose: To optimally exploit fractionation effects in the context of radiosurgery treatments of large cerebral arteriovenous malformations (AVMs). In current practice, fractionated treatments divide the dose evenly into several fractions, which generally leads to low obliteration rates. In this work, we investigate the potential benefit of delivering distinct dose distributions in different fractions. Methods and Materials: Five patients with large cerebral AVMs were reviewed and replanned for intensity modulated arc therapy delivered with conventional photon beams. Treatment plans allowing for different dose distributions in all fractions were obtained by performing treatment plan optimization based on the cumulative biologically effective dosemore » delivered at the end of treatment. Results: We show that distinct treatment plans can be designed for different fractions, such that high single-fraction doses are delivered to complementary parts of the AVM. All plans create a similar dose bath in the surrounding normal brain and thereby exploit the fractionation effect. This partial hypofractionation in the AVM along with fractionation in normal brain achieves a net improvement of the therapeutic ratio. We show that a biological dose reduction of approximately 10% in the healthy brain can be achieved compared with reference treatment schedules that deliver the same dose distribution in all fractions. Conclusions: Boosting complementary parts of the target volume in different fractions may provide a therapeutic advantage in fractionated radiosurgery treatments of large cerebral AVMs. The strategy allows for a mean dose reduction in normal brain that may be valuable for a patient population with an otherwise normal life expectancy.« less

[Acute hepatic vascular complications].

PubMed

Ochs, A

2011-07-01

Acute hepatic vascular complications are rare. Acute portal vein thrombosis (PVT) and the Budd-Chiari syndrome (BSC) are the leading causes. Coagulopathy and local factors are present in up to 80% of cases. Diagnosis is established by colour-coded Doppler sonography, contrast-enhanced computed tomography or magnetic resonance imaging. Patients with acute PVT present with abdominal pain and disturbed intestinal motility. In the absence of cirrhosis anticoagulation with heparin is established followed by oral anticoagulation. In severe cases, surgical thrombectomy or transjugular thrombolysis with stent shunt may be necessary. Acute or fulminant BCS may require emergency liver transplantation or a transjugular intrahepatic portosystemic stent shunt, if patients present with acute liver failure. Milder cases receive anticoagulation for thrombolysis of occluded hepatic veins. Sinusoidal obstruction syndrome (SOS) is diagnosed after total body irradiation or chemotherapy, the term SOS replacing the former veno-occlusive disease. The treatment of congenital vascular malformations, complications in the setting of OLTX as well as patients with hepatic involvement of hereditary hemorrhagic telangiectasia requires significant expertise in a multidisciplinary approach.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Potashnik, G.; Yanai-Inbar, I.

The current study summarizes an 8-year reassessment of testicular function and reproductive performance in 15 workers with dibromochloropropane (DBCP)-induced azoospermia and oligozoospermia. Recovery of spermatogenesis was observed in four oligozoospermic and three azoospermic men whose plasma follicle-stimulating hormone (FSH) concentration was normal during the whole period. A marked increase in FSH and luteinizing hormone concentrations above the upper limit of normal was found in the azoospermic workers who did not recover. No significant changes in FSH concentrations were detected in both recovered and nonrecovered oligozoospermic men. Testosterone levels of all patients were normal at all times. Paternal exposure to DBCPmore » was not associated with increased risk of fetal malformations or spontaneous abortion.« less

Magnetic resonance imaging features of complex Chiari malformation variant of Chiari 1 malformation.

PubMed

Moore, Hannah E; Moore, Kevin R

2014-11-01

Complex Chiari malformation is a subgroup of Chiari 1 malformation with distinct imaging features. Children with complex Chiari malformation are reported to have a more severe clinical phenotype and sometimes require more extensive surgical treatment than those with uncomplicated Chiari 1 malformation. We describe reported MR imaging features of complex Chiari malformation and evaluate the utility of craniometric parameters and qualitative anatomical observations for distinguishing complex Chiari malformation from uncomplicated Chiari 1 malformation. We conducted a retrospective search of the institutional imaging database using the keywords "Chiari" and "Chiari 1" to identify children imaged during the 2006-2011 time period. Children with Chiari 2 malformation were excluded after imaging review. We used the first available diagnostic brain or cervical spine MR study for data measurement. Standard measurements and observations were made of obex level (mm), cerebellar tonsillar descent (mm), perpendicular distance to basion-C2 line (pB-C2, mm), craniocervical angle (degrees), clivus length, and presence or absence of syringohydromyelia, basilar invagination and congenital craniovertebral junction osseous anomalies. After imaging review, we accessed the institutional health care clinical database to determine whether each subject clinically met criteria for Chiari 1 malformation or complex Chiari malformation. Obex level and craniocervical angle measurements showed statistically significant differences between the populations with complex Chiari malformation and uncomplicated Chiari 1 malformation. Cerebellar tonsillar descent and perpendicular distance to basion-C2 line measurements trended toward but did not meet statistical significance. Odontoid retroflexion, craniovertebral junction osseous anomalies, and syringohydromyelia were all observed proportionally more often in children with complex Chiari malformation than in those with Chiari 1 malformation. Characteristic imaging features of complex Chiari malformation, especially obex level, permit its distinction from the more common uncomplicated Chiari 1 malformation.

Hydrocolpos in cloacal malformations.

PubMed

Bischoff, Andrea; Levitt, Marc A; Breech, Lesley; Louden, Emily; Peña, Alberto

2010-06-01

Hydrocolpos is a condition rarely mentioned in the literature. The purpose of this report is to increase the index of suspicion for hydrocolpos in patients with cloaca and to describe our approach for its treatment with the hope that errors in the management of hydrocolpos can be avoided. We reviewed 411 medical records of patients diagnosed with cloaca and managed at our Center during the last 26 years. Emphasis was placed on evaluating for the presence of hydrocolpos, type of drainage, and complications related to the persistence of the hydrocolpos. One hundred seventeen cloaca patients had an associated hydrocolpos (28.4%). Forty-two cases (36%) were initially managed at other institutions at which the hydrocolpos was not drained. Complications experienced by this group included: multiple urinary tract infections (8), hydrocolpos infection (7), sepsis (7), failure to thrive (6), ruptured hydrocolpos (4), and development of hydronephrosis in previously normal kidneys (2). Forty-one patients (35%) had other modalities of treatment, aimed to drain the hydrocolpos, including vesicostomy (26), intermittent perineal catheterization (8), single aspiration (6), or plasty of the perineal orifice (1). In all of these cases, the hydrocolpos persisted or reaccumulated. Thirty-four patients (29%) underwent an effective drainage of the hydrocolpos at birth; 29 at other institutions, 15 with a tube vaginostomy, 13 with a tubeless vaginostomy, and 1 with a catheter placed and left in the vagina through cystoscopy. Five cases had a tube vaginostomy done by us. In all these cases, the vagina remained adequately drained as demonstrated radiologically. Proper drainage of the hydrocolpos alone, with no urologic intervention, dramatically improved the hydronephrosis in 13 cases. Hydrocolpos in patients with cloacas must be diagnosed and treated early in life. Our preferred approach is a transabdominal indwelling vaginostomy tube. The drainage of the hydrocolpos alone may dramatically improve the hydronephrosis, and therefore, we suggest that only after the hydrocolpos is drained should a urological intervention be contemplated. Failure to drain the hydrocolpos can result in serious complications. Copyright 2010 Elsevier Inc. All rights reserved.

Long-term Follow-up of Patients After Antegrade Continence Enema Procedure

PubMed Central

Siddiqui, Anees A.; Fishman, Steven J.; Bauer, Stuart B.; Nurko, Samuel

2013-01-01

Background Antegrade continence enema (ACE) has become an important therapeutic modality in the treatment of intractable constipation and fecal incontinence. There are little data available on the long-term performance of the ACE procedure in children. Methods A retrospective review of patients who underwent the ACE procedure was conducted. Irrigation characteristics and complications were noted. Outcome was assessed for individual encounters based on frequency of bowel movements, incontinence, pain, and predictability. Results One hundred seventeen patients underwent an ACE. One hundred five patients had at least 6 months of follow-up, and were included in the analysis. Diagnoses included myelodysplasia (39%), functional intractable constipation (26%), anorectal malformations (21%), nonrelaxing internal anal sphincter (7%), cerebral palsy (3%), and other diagnoses (4%). The average follow-up was 68 months (range 7–178 months). At the last follow-up, 69% of patients had successful bowel management. Of the 31% of patients who did not have successful bowel management, 20% were using the ACE despite suboptimal results, 10% required surgical removal, and 2% were not using the ACE because of behavioral opposition to it. Patients were started on normal saline, but were switched to GoLYTELY (PEG-3350 and electrolyte solution) if there was an inadequate response (61% at final encounter). Additives were needed in 34% of patients. The average irrigation dose was 23 ± 0.7mL/kg. The average toilet sitting time was 51.7 ± 3.5minutes, with infusions running for 12.1 ± 1.2minutes. Stomal complications occurred in 63% (infection, leakage, and stenosis) of patients, 33% required surgical revision and 6% eventually required diverting ostomies. Conclusions Long-term use of the ACE gives successful results in 69% of patients, whereas 63% had a stoma-related complication and 33% required surgical revision of the stoma. PMID:21502828

Cleft lip and palate: a descriptive comparative, retrospective, and prospective study of patients with cleft deformities managed at 2 hospitals in Kenya.

PubMed

Wanjeri, Joseph Kimani; Wachira, John Makanga

2009-09-01

This was a combined retrospective and prospective study in which 2 sets of results from 2 hospitals in Nairobi were analyzed and compared. The retrospective study was conducted at Kenyatta National Hospital, whereas the prospective study was conducted at Metropolitan Hospital.The main objective of the study was to establish the presentation and pattern of patients with cleft lip and palate and complications of repair at the 2 hospitals.In the retrospective arm of the study, files of all patients presenting with clefts at Kenyatta National Hospital between January 1998 and December 2007 were retrieved, and a questionnaire was filled out for each of them, whereas all patients seen and operated on for clefts at the Metropolitan Hospital from January 2007 to October 2008 were recruited into the prospective study.There was a predominance of male participants in both studies, and most clefts were on the left side. The retrospective and prospective studies had positive family history in 3.5% and 30.9%, respectively. Associated congenital malformations were 8.2% for the retrospective study and 25% for the prospective study. In both studies, the central province had the largest number of clefts, whereas the coast province had very few.Cleft lip and palate is a significant congenital malformation in Kenya, and there seems to be a higher incidence of familial tendency and associated congenital malformations than that reported elsewhere.

[Absent or hypoplastic thymus: A marker for 22q11.2 microdeletion syndrome in case of polyhydramnios].

PubMed

Lamouroux, A; Mousty, E; Prodhomme, O; Bigi, N; Le Gac, M-P; Letouzey, V; De Tayrac, R; Mares, P

2016-04-01

In prenatal diagnosis of 22q11.2 microdeletion syndrome, without cardiac malformation or multiple associated congenital anomalies, we study the presence of polyhydramnios and its association with thymic dysgenesis. This was a multicenter retrospective observational study. It was performed in two multidisciplinary centers for prenatal diagnosis in the south of France between January 1, 2010 and June 30, 2013. Inclusion criteria were prenatal diagnosis of 22q11.2 deletion syndrome. We excluded from the study any fetus with cardiac malformation or multiple associated congenital anomalies. During the inclusion period, eleven antenatal diagnoses of 22q11.2 microdeletion syndrome have been made. Six cases were excluded: 5 fetuses with cardiac malformation and one with multiple associated congenital anomalies. Therefore, five cases of isolated polyhydramnios were included. All 5 fetuses had a thymic dysgenesis: 3 had a thymic agenesis and 1 thymic hypoplasia diagnosed by sonography and 1 had a thymic agenesis diagnosed by retrospective reading of fetal MRI. When faced with a polyhydramnios, the presence of a thymic dysgenesis should be search for by ultrasound screening and would alert to the possibility of a 22q11.2 microdeletion syndrome. The confirmation of this is diagnosis by amniocentesis would enable improved antenatal support for parents and would enable early implementation of the multidisciplinary neonatal care that is required to avoid serious complications of this syndrome. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities.

PubMed

Matricardi, Sara; Spalice, Alberto; Salpietro, Vincenzo; Di Rosa, Gabriella; Balistreri, Maria Cristina; Grosso, Salvatore; Parisi, Pasquale; Elia, Maurizio; Striano, Pasquale; Accorsi, Patrizia; Cusmai, Raffaella; Specchio, Nicola; Coppola, Giangennaro; Savasta, Salvatore; Carotenuto, Marco; Tozzi, Elisabetta; Ferrara, Pietro; Ruggieri, Martino; Verrotti, Alberto

2016-09-01

This paper reports on the clinical aspects, electroencephalographic (EEG) features, and neuroimaging findings in children with full trisomy 18 and associated epilepsy, and compares the evolution and outcome of their neurological phenotype. We retrospectively studied 18 patients (10 males and 8 females; aged 14 months to 9 years) with full trisomy 18 and epilepsy. All patients underwent comprehensive assessment including neuroimaging studies of the brain. We divided patients into two groups according to neuroimaging findings: (Group 1) 10 patients harboring structural brain malformations, and (Group 2) 8 patients with normal brain images. Group 1 had a significantly earlier age at seizure onset (2 months) compared to Group 2 (21 months). The seizure semiology was more severe in Group 1, who presented multiple seizure types, need for polytherapy (80% of patients), multifocal EEG abnormalities and poorer outcome (drug resistant epilepsy in 90% of patients) than Group 2 who presented a single seizure type, generalized or focal, and non-specific EEG pattern; these patients were successfully treated with monotherapy with good outcome. Imaging revealed a wide and complex spectrum of structural brain abnormalities including anomalies of the commissures, cerebellar malformations, cortical abnormalities, and various degrees of cortical atrophy. Epilepsy in full trisomy 18 may develop during the first months of life and can be associated with structural brain malformations. Patients with brain malformations can show multiple seizure types and can frequently be resistant to therapy with antiepileptic drugs. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Mouse hypospadias: A critical examination and definition

PubMed Central

Sinclair, Adriane Watkins; Cao, Mei; Shen, Joel; Cooke, Paul; Risbridger, Gail; Baskin, Laurence; Cunha, Gerald R.

2016-01-01

Hypospadias is a common malformation whose etiology is based upon perturbation of normal penile development. The mouse has been previously used as a model of hypospadias, despite an unacceptably wide range of definitions for this malformation. The current paper presents objective criteria and a definition of mouse hypospadias. Accordingly, diethylstilbestrol (DES) induced penile malformations were examined at 60 days postnatal (P60) in mice treated with DES over the age range of 12 days embryonic to 20 days postnatal (E12 to P20). DES-induced hypospadias involves malformation of the urethral meatus, which is most severe in DES E12-P10, DES P0-P10 and DES P5-P15 groups and less so or absent in the other treatment groups. A frenulum-like ventral tether between the penis and the prepuce was seen in the most severely affected DES-treated mice. Internal penile morphology was also altered in the DES E12-P10, DES P0-P10 and DES P5-P15 groups (with little effect in the other DES treatment groups). Thus, adverse effects of DES are a function of the period of DES treatment and most severe in the P0 to P10 period. In “estrogen mutant mice” (NERKI, βERKO, αERKO and AROM+) hypospadias was only seen in AROM+ male mice having genetically-engineered elevation is serum estrogen. Significantly, mouse hypospadias was only seen distally at and near the urethral meatus where epithelial fusion events are known to take place and never in the penile midshaft, where urethral formation occurs via an entirely different morphogenetic process. PMID:27068029

Gorlin-Goltz syndrome: A rare case report

PubMed Central

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-01-01

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts. PMID:24403808

Angiomatous lesion and delayed cyst formation after gamma knife surgery for intracranial meningioma: case report and review of literatures.

PubMed

Liu, Zhiyong; He, Min; Chen, Hongxu; Liu, Yi; Li, Qiang; Li, Lin; Li, Jin; Chen, Haifeng; Xu, Jianguo

2015-01-01

Gamma Knife has become a major therapeutic method for intracranial meningiomas, vascular malformations and schwannomas with exact effect. In recent years an increasing number of delayed complications after Gamma Knife surgery have been reported, such as secondary tumors, cystic changes or cyst formation. But angiomatous lesion and delayed cyst formation after Gamma Knife for intracranial lesion has rarely been reported. Here we report the first case of angiomatous lesion and delayed cyst formation following Gamma Knife for intracranial meningioma and discuss its pathogenesis.

Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265,858 consecutive births.

PubMed

Stoll, C; Alembik, Y; Dott, B; Roth, M P

2001-01-01

The aim of this study was to describe the prevalence at birth of two abdominal wall defects (AWD), omphalocela and gastroschisis and to identify possible etiologic factors. The AWD came from 265,858 consecutive births of known ouome registered in the registry of congenital malformations of Strasbourg for the period 1979 to 1998. Request information on the child, the pregnancy, the parents and the family was obtained for cases and for controls. Hundred five cases with AWD were analysed, 55.2 % were omphalocele and 44.8 % were gastroschisis. The mean prevalence rate for omphalocele was 2.18 per 10,000 and for gastroschisis 1.76 per 10,000. Associated malformations were found in 74.1 % of omphalocele compared with 53.2 % of gastroschisis; 29.3 % of fetuses with omphalocele had an abnormal karyotype, 44,8 % had a recognizable syndrome, association or an unspecified malformation pattern; 51.0 % of fetuses with gastroschisis had additional malformations that were not of chromosomal origin, but 1 case. Antenatal ultrasound examination was able to detect 39 (67.2 %) cases of omphaloceles and 27 (57.4 %) cases of gastroschisis. In 30 (51.7 %) cases of omphalocele and in 7 (14.9 %) cases of gastroschisis parents opted for termination of pregnancy. The overall survival rate was 14 (24.1 %) for omphalocele and 30 (63.8 %) for gastroschisis. Weight, length and head circumference at birth of infants with AWD were less than those of controls. The weight of placenta of infants with AWD was not different from the weight of placenta of controls. Gastroschisis was associated with significantly younger maternal age than omphalocele. Pregnancies with AWD were more often complicated by threatened abortion, oligohydramnios and polyhydramnios. Mothers of children with AWD took more often medication during pregnancy than mothers of controls.

Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development.

PubMed

Reid, Shaina N; Ziermann, Janine M; Gondré-Lewis, Marjorie C

2015-07-01

Craniofacial malformations are common congenital defects caused by failed midline inductive signals. These midline defects are associated with exposure of the fetus to exogenous teratogens and with inborn genetic errors such as those found in Down, Patau, Edwards' and Smith-Lemli-Opitz syndromes. Yet, there are no studies that analyze contributions of synchronous neurocranial and neural development in these disorders. Here we present the first in-depth analysis of malformations of the basicranium of a holoprosencephalic (HPE) trisomy 18 (T18; Edwards' syndrome) fetus with synophthalmic cyclopia and alobar HPE. With a combination of traditional gross dissection and state-of-the-art computed tomography, we demonstrate the deleterious effects of T18 caused by a translocation at 18p11.31. Bony features included a single developmentally unseparated frontal bone, and complete dual absence of the anterior cranial fossa and ethmoid bone. From a superior view with the calvarium plates removed, there was direct visual access to the orbital foramen and hard palate. Both the eyes and the pituitary gland, normally protected by bony structures, were exposed in the cranial cavity and in direct contact with the brain. The middle cranial fossa was shifted anteriorly, and foramina were either missing or displaced to an abnormal location due to the absence or misplacement of its respective cranial nerve (CN). When CN development was conserved in its induction and placement, the respective foramen developed in its normal location albeit with abnormal gross anatomical features, as seen in the facial nerve (CNVII) and the internal acoustic meatus. More anteriorly localized CNs and their foramina were absent or heavily disrupted compared with posterior ones. The severe malformations exhibited in the cranial fossae, orbital region, pituitary gland and sella turcica highlight the crucial involvement of transcription factors such as TGIF, which is located on chromosome 18 and contributes to neural patterning, in the proper development of neural and cranial structures. Our study of a T18 specimen emphasizes the intricate interplay between bone and brain development in midline craniofacial abnormalities in general. © 2015 Anatomical Society.

Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.

PubMed

Abdel Razek, Ahmed Abdel Khalek; Castillo, Mauricio

2016-01-01

We aim to review the magnetic resonance imaging appearance of malformations of midbrain and hindbrain. These can be classified as predominantly cerebellar malformations, combined cerebellar and brain stem malformations, and predominantly brain stem malformations. The diagnostic criteria for the majority of these morphological malformations are based on neuroimaging findings. The predominantly cerebellar malformations include predominantly vermian hypoplasia seen in Dandy-Walker malformation and rhombencephalosynapsis, global cerebellar hypoplasia reported in lissencephaly and microlissencephaly, and unilateral cerebellar hypoplasia seen in PHACES, vanishing cerebellum, and cerebellar cleft. Cerebellar dysplasias are seen in Chudley-McCullough syndrome, associated with LAMA1 mutations and GPR56 mutations; Lhermitte-Duclos disease; and focal cerebellar dysplasias. Cerebellar hyperplasias are seen in megalencephaly-related syndromes and hemimegalencephaly with ipsilateral cerebellomegaly. Cerebellar and brain stem malformations include tubulinopathies, Joubert syndrome, cobblestone malformations, pontocerebellar hypoplasias, and congenital disorders of glycosylation type Ia. Predominantly brain stem malformations include congenital innervation dysgenesis syndrome, pontine tegmental cap dysplasia, diencephalic-mesencephalic junction dysplasia, disconnection syndrome, and pontine clefts.

Pharmacologic treatment of hyperthyroidism during pregnancy.

PubMed

Cassina, Matteo; Donà, Marta; Di Gianantonio, Elena; Clementi, Maurizio

2012-08-01

Clinical hyperthyroidism has been associated with an increased risk of maternal, fetal, and neonatal complications. The available antithyroid drugs are methimazole/carbimazole and propylthiouracil. Several case reports and some epidemiologic studies suggest that methimazole/carbimazole exposure during the first trimester of pregnancy is associated with an increased risk of congenital malformations, including ectodermal anomalies, choanal atresia, esophageal atresia, and omphalocele. However, the absolute risk appears to be very small, and it remains unclear whether the association is driven by the maternal disease, the medication, or the combination of both factors. Propylthiouracil exposure has not been associated with an increased risk of congenital malformations and is the recommended drug during the first trimester of pregnancy. Since propylthiouracil-induced hepatotoxicity has been reported in approximately 0.1% of exposed adults and the number of case-reports of severe liver injury is increasing, treatment with low dose methimazole during the second and third trimesters should be considered. Until now, there has been no evidence that children prenatally exposed to methimazole/carbimazole or propylthiouracil have an increased risk of neurodevelopmental delay. Copyright © 2012 Wiley Periodicals, Inc.

The safety of serotonin-noradrenaline reuptake inhibitors (SNRIs) in pregnancy and breastfeeding: a comprehensive review.

PubMed

Bellantuono, Cesario; Vargas, Marianna; Mandarelli, Gabriele; Nardi, Bernardo; Martini, Maria Giulia

2015-05-01

The present study provides a comprehensive review of the existing literature on the safety of serotonin-noradrenaline reuptake inhibitors (SNRIs) in pregnancy and lactation. Studies published in English, reporting the use of SNRIs in pregnant and/or breastfeeding women, were identified by searching MEDLINE/Pubmed, PsycINFO, and EMBASE. Twenty-nine studies were included in the review. Altogether, the initial evidence coming from the reviewed studies suggests a lack of association between SNRIs and an increased risk of major congenital malformations. Conversely, exposure to SNRIs seems to be significantly associated with an increased risk of some perinatal complications. No neonatal adverse events emerged, so far, in the few studies concerning the safety of SNRIs during breastfeeding. Available data suggest that venlafaxine is relatively safe during pregnancy, in particular as far as major malformations are concerned, whereas considering the small number of studies published, no definitive conclusions can be drawn on its safety during breastfeeding. Because of the few studies so far published, the safety of duloxetine during pregnancy and breastfeeding remains to be well established. Copyright © 2015 John Wiley & Sons, Ltd.

Interventional closure of RPA-to-LA communication in an oligosymptomatic neonate.

PubMed

Benz, Dominik C; Burkhardt, Barbara; Quandt, Daniel; Stambach, Dominik; Knirsch, Walter; Kretschmar, Oliver

2014-12-01

Direct communication between the right pulmonary artery (RPA) and the left atrium (LA) is a very rare cardiac malformation. Clinical presentation of RPA-to-LA communication depends on the size of the communication, the amount of right-to-left shunt, the patient's age, and pulmonary vascular resistance. Patients with small communications usually present oligosymptomatic and are diagnosed at an older age. A delay of diagnosis bears the risk of severe complications and needs to be prevented by proper work-up of oligosymptomatic neonates. Treatment of RPA-to-LA communications used to be performed by surgical closure, and the interventional approach has only been established as a less invasive alternative in recent years. Although patients with small RPA-to-LA communications usually present oligosymptomatic, early diagnosis and treatment is essential to prevent life-threatening complications.

Stereotactic radiosurgery for arteriovenous malformations after Onyx embolization: a case-control study.

PubMed

Lee, Cheng-Chia; Chen, Ching-Jen; Ball, Benjamin; Schlesinger, David; Xu, Zhiyuan; Yen, Chun-Po; Sheehan, Jason

2015-07-01

Onyx, an ethylene-vinyl alcohol copolymer mixed in a dimethyl sulfoxide solvent, is currently one of the most widely used liquid materials for embolization of intracranial arteriovenous malformations (AVMs). The goal of this study was to define the risks and benefits of stereotactic radiosurgery (SRS) for patients who have previously undergone partial AVM embolization with Onyx. Among a consecutive series of 199 patients who underwent SRS between January 2007 and December 2012 at the University of Virginia, 25 patients had Onyx embolization prior to SRS (the embolization group). To analyze the obliteration rates and complications, 50 patients who underwent SRS without prior embolization (the no-embolization group) were matched by propensity score method. The matched variables included age, sex, nidus volume before SRS, margin dose, Spetzler-Martin grade, Virginia Radiosurgery AVM Scale score, and median imaging follow-up period. After Onyx embolization, 18 AVMs were reduced in size. Total obliteration was achieved in 6 cases (24%) at a median of 27.5 months after SRS. In the no-embolization group, total obliteration was achieved in 20 patients (40%) at a median of 22.4 months after SRS. Kaplan-Meier analysis demonstrated obliteration rates of 17.7% and 34.1% in the embolization group at 2 and 4 years, respectively. In the no-embolization group, the corresponding obliteration rates were 27.0% and 55.9%. The between-groups difference in obliteration rates after SRS did not achieve statistical significance. The difference in complications, including adverse radiation effects, hemorrhage episodes, seizure control, and patient mortality also did not reach statistical significance. Onyx embolization can effectively reduce the size of many AVMs. This case-control study did not show any statistically significant difference in the rates of embolization or complications after SRS in patients who had previously undergone Onyx embolization and those who had not.

Outcomes after suboccipital decompression without dural opening in children with Chiari malformation Type I

PubMed Central

Kennedy, Benjamin C.; Kelly, Kathleen M.; Phan, Michelle Q.; Bruce, Samuel S.; McDowell, Michael M.; Anderson, Richard C. E.; Feldstein, Neil A.

2015-01-01

Object Symptomatic pediatric Chiari malformation Type I (CM-I) is most often treated with posterior fossa decompression (PFD), but controversy exists over whether the dura needs to be opened during PFD. While dural opening as a part of PFD has been suggested to result in a higher rate of resolution of CM symptoms, it has also been shown to lead to more frequent complications. In this paper, the authors present the largest reported series of outcomes after PFD without dural opening surgery, as well as identify risk factors for recurrence. Methods The authors performed a retrospective review of 156 consecutive pediatric patients in whom the senior authors performed PFD without dural opening from 2003 to 2013. Patient demographics, clinical symptoms and signs, radiographic findings, intraoperative ultrasound results, and neuromonitoring findings were reviewed. Univariate and multivariate regression analyses were performed to determine risk factors for recurrence of symptoms and the need for reoperation. Results Over 90% of patients had a good clinical outcome, with improvement or resolution of their symptoms at last follow-up (mean 32 months). There were no major complications. The mean length of hospital stay was 2.0 days. In a multivariate regression model, partial C-2 laminectomy was an independent risk factor associated with reoperation (p = 0.037). Motor weakness on presentation was also associated with reoperation but only with trend-level significance (p = 0.075). No patient with < 8 mm of tonsillar herniation required reoperation. Conclusions The vast majority (> 90%) of children with symptomatic CM-I will have improvement or resolution of symptoms after a PFD without dural opening. A non–dural opening approach avoids major complications. While no patient with tonsillar herniation < 8 mm required reoperation, children with tonsillar herniation at or below C-2 have a higher risk for failure when this approach is used. PMID:25932779

Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection.

PubMed

Olney, R S; Hoyme, H E; Roche, F; Ferguson, K; Hintz, S; Madan, A

2001-11-01

Schinzel phocomelia syndrome is characterized by limb/pelvis hypoplasia/aplasia: specifically, intercalary limb deficiencies and absent or hypoplastic pelvic bones. The phenotype is similar to that described in a related multiple malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome. The additional important feature of large parietooccipital skull defects without meningocele, encephalocele, or other brain malformation has thus far been reported only in children with Schinzel phocomelia syndrome. We recently evaluated a boy affected with Schinzel phocomelia born to nonconsanguineous healthy parents of Mexican origin. A third-trimester fetal ultrasound scan showed severe limb deficiencies and an absent pelvis. The infant died shortly after birth. Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe polydactyly; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, telecanthus, micropenis with cryptorchidism, renal cysts, stenosis of the colon, and a cleft alveolar ridge. A normal 46,XY karyotype was demonstrated, and autosomal recessive inheritance was presumed on the basis of previously reported families. This case report emphasizes the importance of recognizing severe pelvic and skull deficiencies (either post- or prenatally) in differentiating infants with Schinzel phocomelia from other multiple malformation syndromes that feature intercalary limb defects, including thalidomide embryopathy and Roberts-SC phocomelia. Copyright 2001 Wiley-Liss, Inc.

Brainstem auditory and somatosensory evoked potentials in relation to clinical and neuroimaging findings in Chiari type 1 malformation.

PubMed

Moncho, Dulce; Poca, Maria-Antonia; Minoves, Teresa; Ferré, Alejandro; Rahnama, Kimia; Sahuquillo, Juan

2015-04-01

The aim of this study was to describe the abnormalities found in the recordings of evoked potentials (EPs), in particular those of brainstem auditory evoked potentials and somatosensory evoked potentials, in a homogeneous series of patients with Chiari type 1 malformation (CM-1) and study their relationship with clinical symptoms and malformation severity. CM-1 is characterized by cerebellar tonsils that descend below the foramen magnum and may be associated with EP alterations. However, only a small number of authors have described these tests in CM-1, and the patient groups studied to date have been small and heterogeneous. The clinical findings, neuroimages, and EP findings were retrospectively studied in a cohort of 50 patients with CM-1. Seventy percent of patients had EP abnormalities (brainstem auditory evoked potential: 52%, posterior tibial nerve somatosensory evoked potential: 42%, and median nerve somatosensory evoked potential: 34%). The most frequent alteration was an increased central conduction time. Morphometric measurements differed between the normal and pathological groups, although no statistical significance was found when comparing these groups. A high percentage of patients with CM-1 show EP alterations regardless of their clinical or radiological findings, thus highlighting the necessity of performing these tests, especially in patients with few or no symptoms.

MMP20 Promotes a Smooth Enamel Surface, a Strong DEJ, and a Decussating Enamel Rod Pattern

PubMed Central

Bartlett, John D.; Skobe, Ziedonis; Nanci, Antonio; Smith, Charles E.

2012-01-01

Mutations of the Matrix metalloproteinase-20 (MMP20, enamelysin) gene cause autosomal recessive amelogenesis imperfecta and Mmp20 ablated mice also have malformed dental enamel. Here we show that Mmp20 null mouse secretory stage ameloblasts maintained a columnar shape and were present as a single layer of cells. However, the null maturation stage ameloblasts covered extraneous nodules of ectopic calcified material formed at the enamel surface. Remarkably, nodule formation occurs in null mouse enamel when MMP20 is normally no longer expressed. The malformed enamel in Mmp20 null teeth was loosely attached to the dentin and the entire enamel layer tended to separate from the dentin indicative of a faulty DEJ. The enamel rod pattern was also altered in Mmp20 null mice. Each enamel rod is formed by a single ameloblast and is a mineralized record of the migration path of the ameloblast that formed it. The Mmp20 null mouse enamel rods were grossly malformed or were absent indicating that the ameloblasts do not migrate properly when backing away from the DEJ. Thus, MMP20 is required for ameloblast cell movement necessary to form the decussating enamel rod patterns, for the prevention of ectopic mineral formation, and to maintain a functional DEJ. PMID:22243247

Atretic cephalocele: the tip of the iceberg.

PubMed

Martinez-Lage, J F; Sola, J; Casas, C; Poza, M; Almagro, M J; Girona, D G

1992-08-01

Atretic cephalocele appears as an unimportant and benign lesion. This malformation consists of meningeal and vestigial tissues (arachnoid, glial, or central nervous system rests). The authors report the findings in 16 cases (seven parietal and nine occipital) of rudimentary cephaloceles. Twelve patients presented with associated brain abnormalities detected by either computerized tomography (CT) or magnetic resonance imaging (MR). Nine lesions also exhibited an anomalous vascular component demonstrated by CT or MR imaging or at surgery. The existence of this tiny malformation in five cases was the main diagnostic clue to a severe complex of cerebral anomalies, namely cerebro-oculomuscular (Walker-Warburg) syndrome. An occipital location of the atretic cephalocele was associated with the worst prognosis, with only two children developing normally. However, a parietal location carried a better prognosis, which is contrary to the outcome reported in the current literature. The authors classify atretic cephaloceles into two types based on histological examination of the surgical specimens, and suggest that these types represent different stages in the development of this malformation. It is concluded that, in the evaluation of the atretic cephalocele, the neurosurgeon is obliged to proceed to a detailed neuroradiological study of the patient and that the prognosis does not depend on the existence of the cephalocele itself, but rather on associated "occult" brain anomalies.

Oxidative Stress Response Induced by Butachlor in Zebrafish Embryo/Larvae: The Protective Effect of Vitamin C.

PubMed

Xiang, Qingqing; Xu, Bofan; Ding, Yilun; Liu, Xiaoyi; Zhou, Ying; Ahmad, Farooq

2018-02-01

The widespread contamination and persistence of the herbicide butachlor in the environment resulted in the exposure of non-target organisms. The present study investigated the toxicity effect of butachlor (1-15 µmol/L) and the protective effect of vitamin C (VC) against butachlor-induced toxicity in zebrafish. It was found that butachlor significantly increased the mortality and malformation rates in a dose-dependent manner, which caused elevation in reactive oxygen species (ROS) and malondialdehyde (MDA) after 72 h exposure. Compared with butachlor treatment group, the protective effect of VC against butachlor-induced toxicity were observed after adding 40, 80 mg/L VC respectively. VC significantly decreased the mortality, malformation rates, ROS, MDA, and normalized antioxidant enzymes activities of zebrafish after 72 h exposure. The result shows VC has mitigative effect on butachlor-induced toxicity and it can be used as an effective antioxidant in aquaculture.

Subcortical heterotopia appearing as huge midline mass in the newborn brain.

PubMed

Fukumura, Shinobu; Watanabe, Toshihide; Kimura, Sachiko; Ochi, Satoko; Yoshifuji, Kazuhisa; Tsutsumi, Hiroyuki

2016-02-01

We report the case of a 2-year-old boy who showed a huge midline mass in the brain at prenatal assessment. After birth, magnetic resonance imaging (MRI) revealed a conglomerate mass with an infolded microgyrus at the midline, which was suspected as a midline brain-in-brain malformation. MRI also showed incomplete cleavage of his frontal cortex and thalamus, consistent with lobar holoprosencephaly. The patient underwent an incisional biopsy of the mass on the second day of life. The mass consisted of normal central nervous tissue with gray and white matter, representing a heterotopic brain. The malformation was considered to be a subcortical heterotopia. With maturity, focal signal changes and decreased cerebral perfusion became clear on brain imaging, suggesting secondary glial degeneration. Coincident with these MRI abnormalities, the child developed psychomotor retardation and severe epilepsy focused on the side of the intracranial mass.

Magnetic Resonance Imaging of An Adult with the Dandy-Walker Syndrome

PubMed Central

Stovall, Joyce M.; Venkatesh, Ramachandran

1988-01-01

A 30-year-old retired veteran was asymptomatic for two decades; he had carried out normal everyday living activities and was self-supporting. It was not until he was struck by an automobile, which resulted in head trauma, that the Dandy-Walker syndrome was incidentally discovered by computed tomography. Most patients with the Dandy-Walker syndrome or malformation are infants and seldom live into adulthood. Therefore, this patient is one of the very few patients with this malformation who remained in a state of cerebrospinal fluid compensation and lived to adulthood. The head trauma he received in the accident is believed to have activated neurological deficits, visual impairment, and diplopia. Although magnetic resonance imaging revealed severe hydrocephalus and lobar holoprosencephaly, the patient had no symptoms of increased intracranial pressure and no craniofacial deformities except for macrocephaly, and was capable of performing everyday living activities adequately. ImagesFigure 1Figure 2Figure 3 PMID:3249328

Dandy-Walker variant associated with bipolar affective disorder

PubMed Central

Lingeswaran, Anand; Barathi, Deepak; Sharma, Gyaneswahr

2009-01-01

The Dandy-Walker malformation is a congenital brain malformation, typically involving the fourth ventricle and the cerebellum. To date, the Dandy-Walker syndrome has not been described in association with bipolar disorder type I mania, and therefore we briefly report the case of a Dandy-Walker variant associated with acute mania. A 10-year-old boy was brought by his mother to the outpatient clinic of the Department of Psychiatry of a tertiary care hospital, with symptoms of mania. The MRI brain of the patient showed a posterior fossa cystic lesion, a giant cisterna magna communicating with the fourth ventricle and mild hypoplasia of the cerebellar vermis, with the rest of the structures being normal and no signs of hydrocephalus. These findings showed that the patient had a Dandy-Walker variant. He responded partially to valproate and olanzepine, which controlled the acute manic symptoms in the ward. PMID:21887198

Computed tomographic analysis of calvarial hyperostosis in captive lions.

PubMed

Gross-Tsubery, Ruth; Chai, Orit; Shilo, Yael; Miara, Limor; Horowitz, Igal H; Shmueli, Ayelet; Aizenberg, Itzhak; Hoffman, Chen; Reifen, Ram; Shamir, Merav H

2010-01-01

Osseous malformations in the skull and cervical vertebrae of lions in captivity are believed to be caused by hypovitaminosis A. These often lead to severe neurologic abnormalities and may result in death. We describe the characterization of these abnormalities based on computed tomography (CT). CT images of two affected and three healthy lions were compared with define the normal anatomy of the skull and cervical vertebrae and provide information regarding the aforementioned osseous malformations. Because bone structure is influenced by various factors other than the aforementioned disease, all values were divided by the skull width that was not affected. The calculated ratios were compared and the most pronounced abnormalities in the affected lions were, narrowing of the foramen magnum, thickening of the tentorium osseus cerebelli and thickening of the dorsal arch of the atlas. CT is useful for detection of the calvarial abnormalities in lions and may be useful in further defining this syndrome.

Fetal and maternal outcomes in pregnancies complicated with fetal macrosomia.

PubMed

Alsammani, Mohamed Alkahatim; Ahmed, Salah Roshdy

2012-06-01

Fetal macrosomia remains a considerable challenge in current obstetrics due to the fetal and maternal complications associated with this condition. This study was designed to determine the prevalence of fetal macrosomia and associated fetal and maternal morbidity and mortality in the Al Qassim Region of Saudi Arabia. This register-based study was conducted from January 1, 2011 through December 30, 2011 at the Maternity and Child Hospital, Qassim, Saudi Arabia. Macrosomia was defined as birth weight of 4 kg or greater. Malformed babies and those born dead were excluded. The total number of babies delivered was 9241; of these, 418 were macrosomic. Thus, the prevalence of fetal macrosomia was 4.5%. The most common maternal complications were postpartum hemorrhage (5 cases, 1.2%), perineal tear (7 cases, 1.7%), cervical lacerations (3 cases, 0.7%), and shoulder dystocia (40 cases, 9.6%) that resulted in 4 cases of Erb's palsy (0.96%), and 6 cases of bone fractures (1.4%). The rate of cesarean section among women delivering macrosomic babies was 47.6% (199), while 52.4% (219) delivered vaginally. Despite extensive efforts to reduce fetal and maternal complications associated with macrosomia, considerable fetal and maternal morbidity remain associated with this condition.

The patterns and causes of neonatal mortality at a tertiary hospital in oman.

PubMed

Abdellatif, Mohamed; Ahmed, Masood; Bataclan, Maria Flordeliz; Khan, Ashfaq Ahmed; Al Battashi, Abeer; Al Maniri, Abdullah

2013-11-01

To report the patterns and causes of neonatal death from a tertiary care neonatal intensive care unit over a period of four years. This is a retrospective cohort study where four years data (January 2006 - December 2009) of all inborn neonatal admissions and deaths were collected from the neonatal intensive care unit at Sultan Qaboos University hospital on predesigned forms. All out born admissions and deaths were excluded. The causes of neonatal death were classified using Wigglesworth's classification. The number of inborn live births during the study period was 10064 and the total number of inborn neonatal admissions was 1475. The total deaths (neonatal and post neonatal) at the neonatal intensive care unit was 73 (63 inborn and 10 out born). Among the inborn, five deaths were post neonatal deaths and hence, excluded from analysis. Among the remaining inborn neonatal deaths (n=58), 34 (59%) were males and 24 (41%) were females. The number of neonatal admissions increased over the years during the study period from 248 to 356, while the number of deaths also increased from 10 deaths in 2006, to 20 deaths in 2009. The primary causes of neonatal deaths were prematurity and its complications 52% (n=30). Lethal congenital malformations lead to 17 (29%) newborn deaths, specific diagnosis in 7 newborns (12%), and birth asphyxia in four (7%) of cases. There was an increasing trend of neonatal admissions and deaths among inborn babies. Prematurity, with sepsis as its major complication and congenital malformations were the leading cause of neonatal mortality.

The Patterns and Causes of Neonatal Mortality at a Tertiary Hospital in Oman

PubMed Central

Abdellatif, Mohamed; Ahmed, Masood; Bataclan, Maria Flordeliz; Khan, Ashfaq Ahmed; Al Battashi, Abeer; Al Maniri, Abdullah

2013-01-01

Objective To report the patterns and causes of neonatal death from a tertiary care neonatal intensive care unit over a period of four years. Methods This is a retrospective cohort study where four years data (January 2006 - December 2009) of all inborn neonatal admissions and deaths were collected from the neonatal intensive care unit at Sultan Qaboos University hospital on predesigned forms. All out born admissions and deaths were excluded. The causes of neonatal death were classified using Wigglesworth's classification. Results The number of inborn live births during the study period was 10064 and the total number of inborn neonatal admissions was 1475. The total deaths (neonatal and post neonatal) at the neonatal intensive care unit was 73 (63 inborn and 10 out born). Among the inborn, five deaths were post neonatal deaths and hence, excluded from analysis. Among the remaining inborn neonatal deaths (n=58), 34 (59%) were males and 24 (41%) were females. The number of neonatal admissions increased over the years during the study period from 248 to 356, while the number of deaths also increased from 10 deaths in 2006, to 20 deaths in 2009. The primary causes of neonatal deaths were prematurity and its complications 52% (n=30). Lethal congenital malformations lead to 17 (29%) newborn deaths, specific diagnosis in 7 newborns (12%), and birth asphyxia in four (7%) of cases. Conclusion There was an increasing trend of neonatal admissions and deaths among inborn babies. Prematurity, with sepsis as its major complication and congenital malformations were the leading cause of neonatal mortality. PMID:24223246

Efficacy and safety of Duplex-guided polidocanol foam sclerotherapy for venous malformations.

PubMed

Ali, Haitham; Saleh, Mahmoud; Mohammed, Walid

2017-06-01

The aim of our study was to report our experience regarding the safety, efficacy of duplex-guided polidocanol (POL) foam sclerotherapy on the overall status of signs and symptoms in patients with venous malformations (VMs). Thirty seven patients with symptomatic extratruncular VMs were treated with duplex-guided POL foam sclerotherapy using Tessari's method. Twenty five patients had limited VMs, while twelve had infiltrating VMs. Postsclerotherapy surveillance was done 6 months after the last sclerotherapy session and comprised both clinical and duplex evaluation. Clinical evaluation entailed a patient self-assessment questionnaire using a four-point scale to rate the degree of symptoms improvement as follows: disappeared, decreased, worsened, or recurred. Findings obtained by duplex scanning were divided into four groups: 1) disappeared group; 2) partially recanalized group; 3) totally recanalized group; and 4) worsened group. There were 20 males and 17 females with mean age of 22.8±5.5 years. There was a significant reduction in the total amount of POL (P=0.0037), the number of sclerotherapy sessions was significantly lesser (P=0.0019), and treatment success was significantly higher (P=0.0495) in patients with limited VMs in comparison to those with infiltrating VMs. No major complications related to sclerotherapy were encountered in both groups. Polidocanol foam sclerotherapy is effective, and safe for treatment of VMs, with high success rate and low risk of major complications. Although associated with relatively high recurrence rate compared with ethanol sclerotherapy, this can be overcome by additional treatment sessions, given the relative simplicity, speed, and safety.

Double Coaxial Microcatheter Technique for Glue Embolization of Renal Arteriovenous Malformations

DOE Office of Scientific and Technical Information (OSTI.GOV)

Uchikawa, Yoko, E-mail: jauchikawa@gmail.com; Mori, Kensaku, E-mail: moriken@md.tsukuba.ac.jp; Shiigai, Masanari, E-mail: m-41gai@yahoo.co.jp

PurposeTo demonstrate the technical benefit of the double coaxial microcatheter technique for embolization of renal arteriovenous malformations (AVMs) with n-butyl cyanoacrylate and iodized oil (glue).Materials and MethodsSix consecutive patients (1 man and 5 women; mean age 61 years; range 44–77 years) with renal AVMs were included. Five patients had hematuria, and one had a risk of heart failure due to a large intrarenal arteriovenous shunt. All patients underwent transarterial embolization using glue and the double coaxial microcatheter technique with outer 2.6F and inner 1.9F microcatheters. After glue injection, the inner microcatheter was retracted, while the outer microcatheter was retained. We assessed themore » complications and clinical outcomes of this technique.ResultsTechnical success was achieved in all patients. In 9 sessions, 34 feeding arteries were embolized with glue using the double coaxial microcatheter technique, 1 was embolized with glue using a single microcatheter, and 2 were embolized with coils. The double coaxial microcatheter technique was useful for selecting small tortuous feeding arteries, preventing glue reflux to the proximal arteries, and approaching multiple feeding arteries without complete retraction of the microcatheters. As a minor complication, glue migrated into the venous system in four patients without any sequelae. In all patients, favorable clinical outcomes, including hematuria cessation in five patients and improvement of the large intrarenal arteriovenous shunt in one patient, were obtained without deterioration of renal function.ConclusionGlue embolization with the double coaxial microcatheter technique was useful for treating renal AVMs with multiple tortuous feeding arteries.« less

Safety and efficacy of endovascular therapy and gamma knife surgery for brain arteriovenous malformations in China: Study protocol for an observational clinical trial.

PubMed

Jin, Hengwei; Huo, Xiaochuan; Jiang, Yuhua; Li, Xiaolong; Li, Youxiang

2017-09-01

Brain arteriovenous malformations (BAVMs) are associated with high morbidity and mortality. The treatment of BAVM remains controversial. Microinvasive treatment, including endovascular therapy and gamma knife surgery, has been the first choice in many conditions. However, the overall clinical outcome of microinvasive treatment remains unknown and a prospective trial is needed. This is a prospective, non-randomized, and multicenter observational registry clinical trial to evaluate the safety and efficacy of microinvasive treatment for BAVMs. The study will require up to 400 patients in approximately 12 or more centers in China, followed for 2 years. Main subjects of this study are BAVM patients underwent endovascular therapy and/or gamma knife surgery. The trial will not affect the choice of treatment modality. The primary outcomes are perioperative complications (safety), and postoperative hemorrhage incidence rate and complete occlusion rate (efficacy). Secondary outcomes are elimination of hemorrhage risk factors (coexisting aneurysms and arteriovenous fistula), volume reduction and remission of symptoms. Safety and efficacy of endovascular therapy, gamma knife surgery, and various combination modes of the two modalities will be compared. Operative complications and outcomes at pretreatment, post-treatment, at discharge and at 3 months, 6 months and 2 years follow-up intervals will be analyzed using the modified Rankin Scale (mRS). The most confusion on BAVM treatment is whether to choose interventional therapy or medical therapy, and the choice of interventional therapy modes. This study will provide evidence for evaluating the safety and efficacy of microinvasive treatment in China, to characterize the microinvasive treatment strategy for BAVMs.

Predictors for pregnancy outcomes in Romanian women with Type 1 Diabetes Mellitus: a prospective study.

PubMed

Timar, Bogdan; Timar, Romulus; Albai, Alin; Stoian, Dana; Nitu, Razvan; Craina, Marius

2014-01-01

Type 1 diabetes mellitus in pregnant women is associated with an increased risk of congenital malformations, obstetric complications, neonatal morbidity, and mortality. Our aim was to evaluate which factors from the first trimester of pregnancy have a significant impact on the pregnancy outcomes of women with type 1 diabetes. We included 94 pregnant women with type 1 diabetes in this study. In these patients, we analyzed the influence of several diabetes-related parameters on the pregnancy outcome. We compared the parameters between two cohorts: those with successful pregnancies and those with adverse pregnancy outcomes, defined as spontaneous abortion or congenital malformations. The influence of several factors on the pregnancy outcome was assessed using multivariate and univariate logistic regressions. The prevalence of adverse pregnancy outcomes was 28.7%, and was associated with poorer glycemic control (p <0.001), lower frequency of daily self-monitoring tests (p <0.001), smoking status (p <0.001), alcohol consumption (p <0.001), increased prevalence of chronic complications of diabetes, and the presence of ketosis. However, the adverse outcomes were not significantly associated with age, duration of diabetes, presence of thyroid disease, or body mass index. Furthermore, planned pregnancy was found to be a significant protective factor (odds ratio, 0.15; p <0.001). These results indicate that by carefully planning the pregnancy, ensuring optimal glycemic control, and eliminating habitual risk factors, the fetal risk in pregnancies among women with type 1 diabetes may decrease to a value similar to that noted in women without diabetes.

Sclerotherapy of Diffuse and Infiltrative Venous Malformations of the Hand and Distal Forearm

DOE Office of Scientific and Technical Information (OSTI.GOV)

Guevara, Carlos J., E-mail: guevarac@mir.wustl.edu; Gonzalez-Araiza, Guillermo; Kim, Seung K.

PurposeVenous malformations (VM) involving the hand and forearm often lead to chronic pain and dysfunction, and the threshold for treatment is high due to the risk of nerve and skin damage, functional deterioration and compartment syndrome. The purpose of this study is to demonstrate that sclerotherapy of diffuse and infiltrative VM of the hand is a safe and effective therapy.Materials and MethodsA retrospective review of all patients with diffuse and infiltrative VM of the hand and forearm treated with sclerotherapy from 2001 to 2014 was conducted. All VM were diagnosed during the clinical visit by a combination of physical examinationmore » and imaging. Sclerotherapy was performed under imaging guidance using ethanol and/or sodium tetradecyl sulfate foam. Clinical notes were reviewed for signs of treatment response and complications, including skin blistering and nerve injury.ResultsSeventeen patients underwent a total of 40 sclerotherapy procedures. Patients were treated for pain (76 %), swelling (29 %) or paresthesias (6 %). Treatments utilized ethanol (70 %), sodium tetradecyl sulfate foam (22.5 %) or a combination of these (7.5 %). Twenty-four percent of patients had complete resolution of symptoms, 24 % had partial relief of symptoms without need for further intervention, and 35 % had some improvement after initial treatment but required additional treatments. Two skin complications were noted, both of which resolved. No motor or sensory loss was reported.ConclusionSclerotherapy is a safe and effective therapy for VM of the hand with over 83 % of patients experiencing relief.« less

Feasibility of office CO2 laser surgery in patients affected by benign pathologies and congenital malformations of female lower genital tract.

PubMed

Frega, A; Verrone, A; Schimberni, M; Manzara, F; Ralli, E; Catalano, A; Schimberni, M; Torcia, F; Cozza, G; Bianchi, P; Marziani, R; Lukic, A

2015-01-01

Traditional surgery presents some disadvantages, such as the necessity for general anesthesia, hemorrhage, recurrence of pathology, and the possible onset of dyspareunia due to an excessive scarring. CO2 laser surgery might resolve these problems and might be employed in a wider range of clinical indications than usual. We examined the results of CO2 laser surgery in patients affected by benign pathologies and congenital malformations of the female lower genital tract. In this observational study, we enrolled 49 women who underwent CO2 laser surgery for the following indications: Bartholin's gland cyst, imperforate hymen, vaginal septum, Nabothian cyst, and vaginal polyps. Feasibility, cost-effectiveness, complication rate, recurrence rate, short- and long-term outcomes were assessed. All procedures were carried out in a short operative time, without any intraoperative complications. Only 1 (2.0%) out of 49 patients required a hemostatic suture for bleeding. Postoperative period was uneventful in all patients, except 6 (12.2%) out of 49 patients who reported pain one day after surgery, successfully treated with paracetamol. Healing was rapid and excellent in all cases; no wound infection, scarring or stenosis were noticed. Preoperative symptoms reduced or disappeared in all cases. No recurrence was observed and no re-intervention was needed. CO2 laser surgery provides several advantages over traditional surgery, as its systematic use in treating pre-invasive, benign, and congenital pathologies of the female lower genital tract reduces patient discomfort, improves short- and long-term outcomes, and optimizes cost-effectiveness.

Interdisciplinary Clinical Management of High Grade Arteriovenous Malformations and Ruptured Flow-Related Aneurysms in the Posterior Fossa

PubMed Central

Mpotsaris, A.; Loehr, C.; Harati, A.; Lohmann, F.; Puchner, M.; Weber, W.

2010-01-01

Summary Posterior fossa arteriovenous malformations are rare entities and treatment modalities technically challenging. In recent years new therapeutic options have emerged through microsurgical and endovascular means. Based on a series of six cases we describe combined interdisciplinary treatment strategies and report the outcome in a midterm follow-up interval of 12 months. Clinical case data were collected during acute phase and follow-up including standardized angiographic control intervals during follow-up and assessment of the outcome. Treatment options included endovascular techniques as well as microsurgical techniques. All reported cases had SAH based on ruptured flow-related aneurysms in posterior fossa AVM; three out of six had multiple aneurysms. In one case we observed a de novo formation of two flow-associated distal aneurysms in an interval of ten years. Two patients were treated only endovascularly, one patient only surgically and three patients with combined methods. Five out of six patients had a good outcome (GOS 4 or 5). One died in the acute phase. Infratentorial AVMs are rare but characterized by a high risk of rupture and SAH, especially in conjunction with flow related aneurysms, which are predictors of poor outcome. The anatomic conditions of the posterior fossa may lead quickly to life-threatening complications due to mass effects. The present study indicates that treatment strategies in the acute phase should focus on flow-related aneurysms, followed by an elective AVM embolization and ectomy whenever possible. An experienced interdisciplinary team and the combination of techniques contribute to a reduction of complications and to a better outcome. PMID:21162770

Prenatal diethylstilbestrol induces malformation of the external genitalia of male and female mice and persistent second-generation developmental abnormalities of the external genitalia in two mouse strains

PubMed Central

Mahawong, Phitsanu; Sinclair, Adriane; Li, Yi; Schlomer, Bruce; Rodriguez, Esequiel; Max, Ferretti M.; Liu, Baomei; Baskin, Laurence S.; Cunha, Gerald R.

2014-01-01

Potential trans-generational influence of diethylstilbestrol (DES) exposure emerged with reports of effects in grandchildren of DES-treated pregnant women and of reproductive tract tumors in offspring of mice exposed in utero to DES. Accordingly, we examined the trans-generational influence of DES on development of external genitalia (ExG) and compared effects of in utero DES exposure in CD-1 and C57BL/6 mice injected with oil or DES every other day from gestational days 12 to 18. Mice were examined at birth, and on 5 to 120 days postnatal to evaluate ExG malformations. Of 23 adult (≥60 days) prenatally DES-exposed males, features indicative of urethral meatal hypospadias (see text for definitions) ranged from 18 to 100% in prenatally DES-exposed CD-1 males and 31 to 100% in prenatally DES-exposed C57BL/6 males. Thus, the strains differed in the incidence of male urethral hypospadias. Ninety-one percent of DES-exposed CD-1 females and 100% of DES-exposed C57BL/6 females had urethral-vaginal fistula. All DES-exposed CD-1 and C57BL/6 females lacked an os clitoris. None of the prenatally oil-treated CD-1 and C57BL/6 male and female mice had ExG malformations. For the second-generation study, 10 adult CD-1 males and females, from oil- and DES-exposed groups, respectively, were paired with untreated CD-1 mice for 30 days, and their offspring evaluated for ExG malformations. None of the F1 DES-treated females were fertile. Nine of 10 prenatally DES-exposed CD-1 males sired offspring with untreated females, producing 55 male and 42 female pups. Of the F2 DES-lineage adult males, 20% had exposed urethral flaps, a criterion of urethral meatal hypospadias. Five of 42 (11.9%) F2 DES lineage females had urethral-vaginal fistula. In contrast, all F2 oil-lineage males and all oil-lineage females were normal. Thus, prenatal DES exposure induces malformations of ExG in both sexes and strains of mice, and certain malformations are transmitted to the second-generation. PMID:25449352

Hard to Swallow: Developmental Biological Insights into Pediatric Dysphagia

PubMed Central

LaMantia, Anthony-Samuel; Moody, Sally A.; Maynard, Thomas M.; Karpinski, Beverly A.; Zohn, Irene E.; Mendelowitz, David; Lee, Norman H.; Popratiloff, Anastas

2015-01-01

Pediatric dysphagia—feeding and swallowing difficulties that begin at birth, last throughout childhood, and continue into maturity—is one of the most common, least understood complications in children with developmental disorders. We argue that a major cause of pediatric dysphagia is altered hindbrain patterning during pre-natal development. Such changes can compromise craniofacial structures including oropharyngeal muscles and skeletal elements as well as motor and sensory circuits necessary for normal feeding and swallowing. Animal models of developmental disorders that include pediatric dysphagia in their phenotypic spectrum can provide mechanistic insight into pathogenesis of feeding and swallowing difficulties. A fairly common human genetic developmental disorder, DiGeorge/22q11.2 Deletion Syndrome (22q11DS) includes a substantial incidence of pediatric dysphagia in its phenotypic spectrum. Infant mice carrying a parallel deletion to 22q11DS patients have feeding and swallowing difficulties. Altered hindbrain patterning, neural crest migration, craniofacial malformations, and changes in cranial nerve growth prefigure these difficulties. Thus, in addition to craniofacial and pharyngeal anomalies that arise independently of altered neural development, pediatric dysphagia may reflect disrupted hindbrain patterning and its impact on neural circuit development critical for feeding and swallowing. The mechanisms that disrupt hindbrain patterning and circuitry may provide a foundation to develop novel therapeutic approaches for improved clinical management of pediatric dysphagia. PMID:26554723

Prefabricated neck expanded skin flap with the superficial temporal vessels for facial resurfacing.

PubMed

Lazzeri, Davide; Su, Weijie; Qian, Yunliang; Messmer, Caroline; Agostini, Tommaso; Spinelli, Giuseppe; Marcus, Jeffrey R; Levin, L Scott; Zenn, Micheal R; Zhang, Yi Xin

2013-05-01

The achievement of a normal-appearing face after surgical resurfacing remains an elusive goal. This is due in part to insufficient color matching, restoration of contours, and the persistence of visible scars. Flap prefabrication is a staged procedure that provides an independent axial blood supply to local expanded tissues. We describe a new reconstructive alternative with superior reconstructive surgical options for facial resurfacing that better matches damaged or discarded facial tissues. A superficial temporal fascial flap was harvested as the vascular supply of the prefabricated neck flap and located in a subcutaneous neck pocket over a tissue expander. After a 5-month period for expansion and maturation, the prefabricated skin flap was raised, islanded, and rotated to resurface the facial defect. Four patients with hemifacial postburn contracture and two patients affected by hemifacial vascular malformations aged 17 to 42 years (mean 29 years) were successfully treated with no major complication after a mean period of 15 months. Prefabricated neck-expanded skin flap demonstrated an excellent color and texture match with facial skin that surrounded the repair sites, and optimal aesthetic results were obtained. Importantly, facial expression was completely maintained due to thinness and pliability of the rotated skin. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Bilateral anomalous drainage of the posterior divisions of renal veins into the azygos venous system in a 20-year-old woman: a case report.

PubMed

Pallangyo, Pedro; Lyimo, Frederick; Nicholaus, Paulina; Masatu, Stephano; Janabi, Mohamed

2016-12-03

Renal vein anomalies are relatively infrequent and generally asymptomatic. Preoperative knowledge of such variants is, however, of paramount importance in several angiographic and surgical procedures including renal venography, renal vein sampling, spermatic embolization, and renal transplantation. Inadequate knowledge and failure to recognize such anatomic variations may lead to several operative hazards including hemorrhage, nephrectomy, and even death. We report a case of bilateral anomalous drainage of the posterior divisions of renal veins into the azygos venous system in a 20-year-old woman of African descent from Tanzania who presented to us with a 12-year history of recurrent anemia. She had anemia, a positive sickling test, and hemoglobin electrophoresis revealed a sickle cell trait (AS). She underwent computed tomography angiography of her chest and abdomen to rule out the presence of arteriovenous malformations. Aortography findings were normal but venography results revealed features of tortuously dilated azygos and hemiazygos veins each receiving blood from its respective posterior division of renal vein. Although venous anomalies are relatively infrequent and generally lack a clinical significance, a thorough understanding of embryologic development and its associated errors is of immense importance in equipping angiographers and surgeons to select appropriate interventional/operative techniques, anticipate risks, and prevent intervention-related complications.

Unusual Association: Cerebral Arteriovenous Malformation and Chiari Type I Malformation.

PubMed

Ogul, Hayri; Kantarci, Mecit

2017-06-01

Cerebral arteriovenous malformation (AVM) is a common type of cerebral vascular malformation. The imaging findings are enlarged vessels, thrombosed sinuses, and hemorrhage or gliosis on adjacent brain parenchyma. Magnetic resonance (MR) imaging can be used safely for diagnosis. Chiari type I malformation is characterized by a caudal descent of the cerebellar tonsil. Coincidence of cerebral AVM and Chiari type I malformation is very rare. In this paper, the authors report MR imaging findings of a patient with coincidence of cerebral AVM and Chiari type I malformation.

Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation.

PubMed

Siddesh, Anjurani; Gupta, Geetika; Sharan, Ram; Agarwal, Meenal; Phadke, Shubha R

2017-04-01

Prenatal diagnosis of malformations is an important method of prevention and control of congenital anomalies with poor prognosis. Central nervous system (CNS) malformations amongst these are the most common. The information about the prevalence and spectrum of prenatally detected malformations is crucial for genetic counselling and policymaking for population-based preventive programmes. The objective of this study was to study the spectrum of prenatally detected CNS malformations and their association with chromosomal abnormalities and autopsy findings. This retrospective study was conducted in a tertiary care hospital in north India from January 2007 to December 2013. The details of cases with prenatally detected CNS malformations were collected and were related with the foetal chromosomal analysis and autopsy findings. Amongst 6044 prenatal ultrasonographic examinations performed; 768 (12.7%) had structural malformations and 243 (31.6%) had CNS malformations. Neural tube defects (NTDs) accounted for 52.3 per cent of CNS malformations and 16.5 per cent of all malformations. The other major groups of prenatally detected CNS malformations were ventriculomegaly and midline anomalies. Chromosomal abnormalities were detected in 8.2 per cent of the 73 cases studied. Foetal autopsy findings were available for 48 foetuses. Foetal autopsy identified additional findings in eight foetuses and the aetiological diagnosis changed in two of them (4.2%). Amongst prenatally detected malformations, CNS malformations were common. NTD, which largely is a preventable anomaly, continued to be the most common group. Moreover, 60 per cent of malformations were diagnosed after 20 weeks, posing legal issues. Chromosomal analysis and foetal autopsy are essential for genetic counselling based on aetiological diagnosis.

Intrapartum transcervical amnioinfusion for meconium-stained amniotic fluid.

PubMed

Das, A K; Jana, N; Dasgupta, S; Samanta, B

2007-06-01

To assess the rates of cesarean deliveries and perinatal outcome following intrapartum transcervical amnioinfusion in women with meconium-stained amniotic fluid (MSAF) in a setting with no electronic fetal monitoring or specialized neonatal care. In this prospective comparative study with 150 women who were in labor and had MSAF, 50 of the women received a transcervical amnioinfusion and the remaining 100 women received standard care. The inclusion criteria were a pregnancy of at least 37 weeks' duration, a single live fetus in cephalic presentation, no major medical or obstetric complications, and no known fetal malformation. The amnioinfusion was performed with 1000 mL of normal saline solution through a red rubber catheter. Amnioinfusion was associated with a significant decrease in the incidence of low Apgar score (<7) at 1 min (12% vs. 47%; relative risk [RR], 0.26; 95% confidence interval [CI], 0.12-0.56); low Apgar score at 5 min (4% vs. 23%; RR, 0.17; 95% CI, 0.04-0.71); and meconium aspiration syndrome (4% vs. 18%; RR, 0.22; 95% CI, 0.05-0.92). There was also a trend towards a lesser incidence of cesarean deliveries (18% vs. 30%; RR, 0.6; 95% CI, 0.31-1.16) and perinatal deaths (4% vs. 13%; RR, 0.31; 95% CI, 0.07-1.31). The incidence of maternal hospital stays longer than 3 days was significantly lower in the amnioinfusion than in the control group (24% vs. 48%; RR, 0.5; 95% CI, 0.29-0.85). There were no major complications related to amnioinfusion. Intrapartum amnioinfusion for MSAF is a simple, safe, effective, and inexpensive procedure feasible in settings where intrapartum monitoring is limited. It is associated with improved perinatal outcome and could lower cesarean delivery rates in low-resource countries.

Cystathionine beta synthase gene dose dependent vascular remodeling in murine model of hyperhomocysteinemia.

PubMed

Tyagi, Neetu; Qipshidze, Natia; Sen, Utpal; Rodriguez, Walter; Ovechkin, Alexander; Tyagi, Suresh C

2011-09-30

Although children born with severe homocystinurea (i.e. cystathionine beta synthase homozygote knockout, CBS-/-) develop deleterious vascular complications with structural malformation and do not live past teenage, the heterozygote (CBS-/+) lives with apparently normal phenotype. Interestingly, this differential role of CBS expression in vascular remodeling is unclear. Peroxisome proliferator activated receptor gamma (PPARγ) is nuclear transcription factor that mitigates vascular complications. The hypothesis was that homocysteine (Hcy) decreased thioredoxin (Trx), peroxiredoxin (Prx), increased NADPH oxidase (NOX1), mitochondrial nitric oxide synthase (mtNOS) activity and reactive oxygen species (ROS) in mitochondria in a CBS gene dose-dependent manner. ROS transduced matrix metalloproteinase (MMP) activation causing thickening (fibrosis) of the basement membrane, rendering ineffective endothelial nitric oxide synthase (eNOS) and promoted endothelial-smooth muscle disconnection/uncoupling by antagonizing PPARγ. Wild type (WT-CBS+/+), CBS-/+ and CBS -/- mice were treated with or without ciglitazone (CZ, a PPARγ agonist) in food at birth. Aortic nuclear PPARγ expression was measured by EMSA. Aortic mtNOS activity and ROS production was measured using NO- and H(2)O(2)-electrodes, respectively. Aorta was analyzed for Trx, Prx, by Western blot, and PCR. MMP activity was by in situ zymography. Aortic function was measured in tissue myobath. The results suggested 90% morbidity in CBS-/- allele at 12 wks. However, treatment with the PPARγ agonist, CZ significantly reduced the morbidity to 20%. In addition, CZ restored the PPARγ activity in CBS-/+ and -/- mice to normal levels. The oxidative stress was alleviated by CZ treatment. In situ labeling with mito-tracker suggests co-localization of ROS with mitochondrial mitophagy. The mtNOS activity was increased in HHcy compared to WT. The data support the notion that Hcy decreases redoxins, increases mtNOS activity and ROS/oxidase in mitochondrial mitophagy in a gene dose-dependent manner of CBS. ROS transduces MMP activation, rendering ineffective eNOS and promotes endothelial-smooth muscle disconnection/uncoupling by antagonizing PPARγ. We suggest that the children born with severe ho-mocystineurea may do better if treated with PPARγ agonist.

Mouse hypospadias: A critical examination and definition.

PubMed

Sinclair, Adriane Watkins; Cao, Mei; Shen, Joel; Cooke, Paul; Risbridger, Gail; Baskin, Laurence; Cunha, Gerald R

2016-12-01

Hypospadias is a common malformation whose etiology is based upon perturbation of normal penile development. The mouse has been previously used as a model of hypospadias, despite an unacceptably wide range of definitions for this malformation. The current paper presents objective criteria and a definition of mouse hypospadias. Accordingly, diethylstilbestrol (DES) induced penile malformations were examined at 60 days postnatal (P60) in mice treated with DES over the age range of 12 days embryonic to 20 days postnatal (E12-P20). DES-induced hypospadias involves malformation of the urethral meatus, which is most severe in DES E12-P10, DES P0-P10 and DES P5-P15 groups, and less so or absent in the other treatment groups. A frenulum-like ventral tether between the penis and the prepuce was seen in the most severely affected DES-treated mice. Internal penile morphology was also altered in the DES E12-P10, DES P0-P10 and DES P5-P15 groups (with little effect in the other DES treatment groups). Thus, adverse effects of DES are a function of the period of DES treatment and most severe in the P0-P10 period. In "estrogen mutant mice" (NERKI, βERKO, αERKO and AROM+) hypospadias was only seen in AROM+ male mice having genetically-engineered elevation is serum estrogen. Significantly, mouse hypospadias was only seen distally at and near the urethral meatus where epithelial fusion events are known to take place and never in the penile midshaft, where urethral formation occurs via an entirely different morphogenetic process. Copyright © 2016 International Society of Differentiation. Published by Elsevier B.V. All rights reserved.

Role of endothelial-to-mesenchymal transition in the pathogenesis of central nervous system hemangioblastomas.

PubMed

Takada, Shigeki; Hojo, Masato; Takebe, Noriyoshi; Tanigaki, Kenji; Miyamoto, Susumu

2018-06-07

Hemangioblastomas (HBs) are benign vascular tumors of the central nervous system and histologically contain abundant microvessels. Therefore, they clinically exhibit vascular malformation-like characteristics. It has been described that endothelial-to-mesenchymal transition (EndMT) contributes to the pathogenesis of cerebral cavernous malformations. However, it remains unknown whether EndMT contributes to the pathogenesis of central nervous system HBs. The aim of our study was to investigate whether EndMT occurs in central nervous system HBs. Ten central nervous system HBs were immunohistochemically investigated. CD31 (an endothelial marker) and EndMT markers, such as α-smooth muscle actin (a mesenchymal marker) and CD44 (a mesenchymal stem cell marker), were expressed in the endothelial layer of microvessels in all cases. These findings suggest that endothelial cells (ECs) of microvessels in central nervous system HBs have acquired mesenchymal and stem-cell-like characteristics and undergone EndMT. In all cases, both ephrin-B2 and EphB4, which are not detected in adult normal brain vessels, were expressed in the endothelial layer of microvessels. These data suggest that ECs of microvessels in central nervous system HBs are immature or malformed cells and have both arterial and venous characteristics. This is the first report showing the possibility that EndMT contributes to the pathogenesis of central nervous system HBs. It is likely that ECs of microvessels in central nervous system HBs are immature or malformed cells and have both arterial and venous characteristics. EndMT is expected to be a new therapeutic target in central nervous system HBs. Copyright © 2018 Elsevier Inc. All rights reserved.

Mechanisms of cerebellar tonsil herniation in patients with Chiari malformations as guide to clinical management

PubMed Central

Nishikawa, Misao; Kula, Roger W.; Dlugacz, Yosef D.

2010-01-01

Background The pathogenesis of Chiari malformations is incompletely understood. We tested the hypothesis that different etiologies have different mechanisms of cerebellar tonsil herniation (CTH), as revealed by posterior cranial fossa (PCF) morphology. Methods In 741 patients with Chiari malformation type I (CM-I) and 11 patients with Chiari malformation type II (CM-II), the size of the occipital enchondrium and volume of the PCF (PCFV) were measured on reconstructed 2D-CT and MR images of the skull. Measurements were compared with those in 80 age- and sex-matched healthy control individuals, and the results were correlated with clinical findings. Results Significant reductions of PCF size and volume were present in 388 patients with classical CM-I, 11 patients with CM-II, and five patients with CM-I and craniosynostosis. Occipital bone size and PCFV were normal in 225 patients with CM-I and occipitoatlantoaxial joint instability, 55 patients with CM-I and tethered cord syndrome (TCS), 30 patients with CM-I and intracranial mass lesions, and 28 patients with CM-I and lumboperitoneal shunts. Ten patients had miscellaneous etiologies. The size and area of the foramen magnum were significantly smaller in patients with classical CM-I and CM-I occurring with craniosynostosis and significantly larger in patients with CM-II and CM-I occurring with TCS. Conclusions Important clues concerning the pathogenesis of CTH were provided by morphometric measurements of the PCF. When these assessments were correlated with etiological factors, the following causal mechanisms were suggested: (1) cranial constriction; (2) cranial settling; (3) spinal cord tethering; (4) intracranial hypertension; and (5) intraspinal hypotension. PMID:20440631

Fetal Surgery

PubMed Central

Laberge, Jean-Martin

1986-01-01

Fetal surgery has come of age. For decades experimental fetal surgery proved essential in studying normal fetal physiology and development, and pathophysiology of congenital defects. Clinical fetal surgery started in the 1960s with intrauterine transfusions. In the 1970s, the advent of ultrasonography revolutionized fetal diagnosis and created a therapeutic vacuum. Fetal treatment, medical and surgical, is slowly trying to fill the gap. Most defects detected are best treated after birth, some requiring a modification in the time, mode and place of delivery for optimal obstetrical and neonatal care. Surgical intervention in utero should be considered for malformations that cause progressive damage to the fetus, leading to death or severe morbidity; that can be corrected or palliated in utero with a reasonable expectation of normal postnatal development; that cannot wait to be corrected after birth, even considering pre-term delivery; that are not accompanied by chromosomal or other major anomalies. At present, congenital hydronephrosis is the most common indication for fetal surgery, followed by obstructive hydrocephalus. Congenital diaphragmatic hernia also fulfills the criteria, but its correction poses more problems, and no clinical attempts have been reported so far. In the future many other malformations or diseases may become best treated in utero. The ethical and moral issues are complex and need to be discussed as clinical and experimental progress is made. PMID:21267309

Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevelopmental outcomes.

PubMed

Patek, Kyla J; Kline-Fath, Beth M; Hopkin, Robert J; Pilipenko, Valentina V; Crombleholme, Timothy M; Spaeth, Christine G

2012-01-01

The purpose of this study was to describe the relationship between intracranial and extracranial anomalies and neurodevelopmental outcome for fetuses diagnosed with a posterior fossa anomaly (PFA) on fetal MRI. Cases of Dandy-Walker malformation, vermian hypogenesis/hypoplasia, and mega cisterna magna (MCM) were identified through the Fetal Care Center of Cincinnati between January 2004 and December 2010. Parental interview and retrospective chart review were used to assess neurodevelopmental outcome. Posterior fossa anomalies were identified in 59 fetuses; 9 with Dandy-Walker malformation, 36 with vermian hypogenesis/hypoplasia, and 14 with MCM. Cases with isolated PFAs (14/59) had better outcomes than those with additional anomalies (p = 0.00016), with isolated cases of MCM all being neurodevelopmentally normal. Cases with additional intracranial anomalies had a worse outcome than those without intracranial anomalies (p = 0.00017). The presence of extracranial anomalies increased the likelihood of having a poor outcome (p = 0.00014) as did the identification of an abnormal brainstem (p = 0.00018). Intracranial and extracranial anomalies were good predictors of neurodevelopmental outcome in this study. The prognosis was poor for individuals with an abnormal brainstem, whereas those with isolated MCM had normal neurodevelopmental outcome. © 2012 John Wiley & Sons, Ltd.

Flexible omnidirectional carbon dioxide laser as an effective tool for resection of brainstem, supratentorial, and intramedullary cavernous malformations.

PubMed

Choudhri, Omar; Karamchandani, Jason; Gooderham, Peter; Steinberg, Gary K

2014-03-01

Lasers have a long history in neurosurgery, yet bulky designs and difficult ergonomics limit their use. With its ease of manipulation and multiple applications, the OmniGuide CO2 laser has reintroduced laser technology to the microsurgical resection of brain and spine lesions. This laser, delivered through a hollow-core fiber lined with a unidirectional mirror, minimizes energy loss and allows precise targeting. To analyze resections performed by the senior author from April 2009 to March 2013 of 58 cavernous malformations (CMs) in the brain and spine with the use of the OmniGuide CO2 laser, to reflect on lessons learned from laser use in eloquent areas, and to share data on comparisons of laser power calibration and histopathology. Data were collected from electronic medical records, radiology reports, operative room records, OmniGuide CO2 laser case logs, and pathology records. Of 58 CMs, approximately 50% were in the brainstem (30) and the rest were in supratentorial (26) and intramedullary spinal locations (2). Fifty-seven, ranging from 5 to 45 mm, were resected, with a subtotal resection in 1. Laser power ranged from 2 to 10 W. Pathology specimens showed minimal thermal damage compared with traditionally resected specimens with bipolar coagulation. The OmniGuide CO2 laser is safe and has excellent precision for the resection of supratentorial, brainstem, and spinal intramedullary CMs. No laser-associated complications occurred, and very low energy was used to dissect malformations from their surrounding hemosiderin-stained parenchymas. The authors recommend its use for deep-seated and critically located CMs, along with traditional tools.

[Epilepsy and pregnancy].

PubMed

Delmis, J; Drazancić, A; Tkalcević, T; Ivanisević, M

1991-01-01

A total of 132 women with epilepsy were confined in the period from 1978-1989. Their pregnancies and outcomes were analysed. The special aim was to find out if the anticonvulsive therapy has any correlation with the occurrence of fetal malformations in the studied group of women. In 43.9% of pregnant women with epilepsy, methyl-phenobarbitone as an anticonvulsive drug was administered, while carbamazepine was applied in 13.6% cases. A combination of phenytoin and phenobarbitone was prescribed in 18.9% of cases. Primidone was the drug of choice in 8% cases and 5.3% of patients were treated with various combinations of anticonvulsive drugs. Hyperemesis, threatened spontaneous abortion and premature labor complicated significantly more pregnancies in patients with epilepsy than on controls. Pregnancies from the studied group were terminated by the cesarean section in significantly more cases (11.2%) than in the control group (5.4%). Newborns from mothers with epilepsy had a statistically lower birthweight (3173 +/- 575 g) than those born from healthy mothers (3376 +/- 510g). Fifteen newborns or 11.2% were born with congenital malformations, while among the control group of newborns only two were malformed. It is noticed that the newborns from mothers treated with phenitoin and phenobarbitone had dysmorphic anomalies of the face more frequently. The drugs mentioned above interfere with the metabolism of K vitamin and as a result of this interreaction, mothers and newborns can suffer from coagulation disorders. In conclusion it is important to mention that no anticonvulsant drug seems to be absolutely safe when used during pregnancy since each of them has a teratogenic effect on the fetus.

Study of placenta of children born with congenital malformations.

PubMed

Stoll, Claude; Alembik, Yves; Dott, Béatrice; Roth, Marie-Paule

2003-01-01

The malformations in this study were observed in a series of 279,642 consecutive births of known outcome registered in our Registry of congenital anomalies. For each case, more than 50 factors included in the registration forms were studied. One of the factors studied was the placenta. For each malformed child, a control was chosen. Cases with maternal known factors impairing placenta function, i.e. vasculopathy and diabetes, were excluded. In each category of malformations studied, the malformed children were divided into isolated and non-isolated (multiple malformed) cases. The weight of placenta of isolated cases was not lower than the weight of placenta of the controls. In contrast, the weight of placenta of the cases with non-isolated malformations was lower than the weight of placenta of the controls and of the isolated cases, for all categories of malformations but gastroschisis and omphalocele. The mean weights at birth of the cases with multiple malformations were also lower than those of the controls. The human placenta discounts a principal functional part, the maternal blood in the intervillous space. Congenital malformations may interact with this function.

A case of schizencephaly has a normal surface EEG but abnormal intracranial EEG: epilepsia partialis continua or dystonia?

PubMed

Lv, Yudan; Ma, Dihui; Meng, Hongmei; Zan, Wang; Li, Cui

2013-10-01

Schizencephaly is a congenital malformation of the cerebral hemispheres, with communication between the lateral ventricle and the subarachnoid space. Marinelli reported that schizencephaly may be associated with continuous involuntary hand movements, such as dystonia or epilepsia partialis continua (EPC). We describe a young Chinese patient with continuous involuntary movements of the contralateral hand affected by schizencephaly. He has a normal scalp electroencephalogram (EEG) but abnormal intracranial EEG, with synchronized periodic lateralized epileptiform discharges. The results obtained from these EEG investigations and the clinical features of the involuntary movements are in favor of a diagnosis of secondary EPC.

New medical risks affecting obstetrics after implementation of the two-child policy in China.

PubMed

Li, Qiang; Deng, Dongrui

2017-12-01

China recently instituted a two-child policy in response to its aging population, declining workforce and demographic dividend, and the need to develop asocial economy. Additionally, women generally delay having a second child because of the overwhelming pressure in their lives. With the improvements in assisted fertility technologies in recent years, the number of elderly women attempting to bear children has increased. The quality of woman's eggs and a man's sperm declined dramatically with increasing age, leading to an increased risk of pregnancy-related complications among older women. Therefore, the types of fertility problems experienced by elderly females must be provided with considerable attention by obstetricians. This commentary article focuses on the medical problems faced by older second-child pregnant women. This work discusses their increased rates of infertility, spontaneous abortion, fetal malformation, gestational diabetes, cesarean section, placenta previa, postpartum hemorrhage, postpartum depression, and hypertensive disorders, which complicate pregnancy.

MANAGEMENT OF OMPHALOPHLEBITIS AND UMBILICAL HERNIA IN THREE NEONATAL GIRAFFE (GIRAFFA CAMELOPARDALIS).

PubMed

Selig, Michael; Lewandowski, Albert; Burton, Michael S; Ball, Ray L

2015-12-01

Umbilical disorders, including omphalophlebitis, omphaloarteritis, external umbilical abscesses, urachal abscesses, patent urachus, and umbilical hernias, represent a significant challenge to the health and well-being of a neonate. The three neonatal giraffe (Giraffa camelopardalis) in this report were evaluated for umbilical swellings. Two developed omphalophlebitis, and one had an uncomplicated umbilical hernia. Omphalophlebitis is an inflammation and/or infection of the umbilical vein. Giraffe calves with a failure of passive transfer may be predisposed and should be thoroughly evaluated for the condition. Umbilical hernias result from a failure of the umbilical ring to close after parturition or from malformation of the umbilical ring during embryogenesis. These problems were surgically corrected for all three individuals, although one died due to postsurgical complications. The risks involved include anesthetic complications, surgical dehiscence, and maternal rejection. Early detection and surgical intervention are recommended for the correction of omphalophlebitis and umbilical hernias in neonatal giraffe.

Pregnancy in women with epilepsy.

PubMed

Laskowska, M; Leszczyńska-Gorzelak, B; Oleszczuk, J

2001-01-01

The aim of this study was to analyze the outcome of pregnancy and delivery in epileptic women. A retrospective review of the 41 pregnant women with epilepsy who delivered in the Department of Obstetrics and Perinatology of the University School of Medicine in Lublin over 7 years (1993-1999) was carried out. Women with epilepsy had more pregnancy complications including premature labor, anemia, hypertension, vaginal bleeding, urinary tract infection, nausea and vomiting. An increased risk of congenital malformations and intrauterine fetal growth retardation was observed. Women with epilepsy require more extensive pregnancy planning including neurologic and preconceptional care. Copyright 2001 S. Karger AG, Basel.

Acute Cor Pulmonale and Right Heat Failure Complicating Ethanol Ablative Therapy: Anesthetic and Radiologic Considerations and Management

DOE Office of Scientific and Technical Information (OSTI.GOV)

Naik, Bhiken, E-mail: bin4n@virginia.edu; Matsumoto, Alan H.

2013-10-15

Ethanol is an effective ablative agent used for the treatment of certain solid organ tumors and vascular malformations (VMs). The egress of ethanol beyond the target tissue can be associated with significant changes to the cardiopulmonary system that can lead to cardiac arrest. This article reviews the contemporary role of ethanol in tumor and VM treatment and discusses the physiological mechanisms of acute pulmonary hypertension and cardiovascular collapse. The importance of periprocedural recognition of the hemodynamic changes that can occur with the use of ethanol and the treatment of this condition are discussed.

Complete Genome Sequences, before and after Mammalian Cell Culture, of Zika Virus Isolated from the Serum of a Symptomatic Male Patient from Oaxaca, Mexico.

PubMed

Boukadida, Celia; Torres-Flores, Jesús M; Yocupicio-Monroy, Martha; Piten-Isidro, Elvira; Rivero-Arrieta, Amaranta Y; Luna-Villalobos, Yara A; Martínez-Vargas, Liliane; Alcaraz-Estrada, Sofía L; Torres, Klintsy J; Lira, Rosalia; Reyes-Terán, Gustavo; Sevilla-Reyes, Edgar E

2017-03-23

Zika virus (ZIKV) is an emerging arthropod-borne flavivirus associated with severe congenital malformations and neurological complications. Although the ZIKV genome is well characterized, there is limited information regarding changes after cell isolation and culture adaptation. We isolated, and passaged in Vero cells, ZIKV from the serum of a symptomatic male patient and compared the viral genomes before and after culture. Single nucleotide polymorphisms were characteristic among serum-circulating genomes, while such diversity decreased after cell culture. Copyright © 2017 Boukadida et al.

Chiari Malformation and Hydrocephalus Masking Neurocysticercosis.

PubMed

Rajpal, Sharad; Tomberlin, Colson; Bauer, Andrew; Forsythe, Robert C; Burneikiene, Sigita

2018-06-01

Various diagnostic characteristics associated with neurocysticercosis have been well studied; however, their potential to be implicated in other differential diagnoses has not been well demonstrated. We report the case of a 55-year-old Hispanic man who underwent a Chiari decompression surgery, which was complicated with hydrocephalus. Despite a ventriculoperitoneal shunt placement, he continued to have headaches and was soon found to have several skull base subarachnoid lesions, which were later diagnosed as the sequelae of an active neurocysticercosis infection. This case report highlights the importance of overlapping symptoms between diseases in a short temporal context. Copyright © 2018 Elsevier Inc. All rights reserved.

Ultrasound-guided high-intensity focused ultrasound ablation for treating uterine arteriovenous malformation.

PubMed

Yan, X; Zhao, C; Tian, C; Wen, S; He, X; Zhou, Y

2017-08-01

To explore HIFU treatment for uterine arteriovenous malformation. A case report. Gynaecological department in a university teaching hospital of China. A patient with uterine arteriovenous malformation. The diagnosis of uterine arteriovenous malformation was made through MRI. Ultrasound-guided high-intensity focused ultrasound (USgHIFU) ablation was performed. HIFU is effective in treating uterine arteriovenous malformation. The patient had reduction of the lesion volume and obvious symptom relief, without significant adverse effects. HIFU can be used as a new treatment option for uterine arteriovenous malformation. Ultrasound-guided high-intensity focused ultrasound ablation is effective in treating uterine arteriovenous malformation. © 2017 Royal College of Obstetricians and Gynaecologists.

Hind limb malformations in free-living northern leopard frogs (Rana pipiens) from Maine, Minnesota, and Vermont suggest multiple etiologies

USGS Publications Warehouse

Meteyer, C.U.; Loeffler, I.K.; Fallon, J.F.; Converse, K.A.; Green, E.; Helgen, J.C.; Kersten, S.; Levey, R.; Eaton-Poole, L.; Burkhart, J.G.

2000-01-01

Background Reports of malformed frogs have increased throughout the North American continent in recent years. Most of the observed malformations have involved the hind limbs. The goal of this study was to accurately characterize the hind limb malformations in wild frogs as an important step toward understanding the possible etiologies. Methods During 1997 and 1998, 182 recently metamorphosed northern leopard frogs (Rana pipiens) were collected from Minnesota, Vermont, and Maine. Malformed hind limbs were present in 157 (86%) of these frogs, which underwent necropsy and radiographic evaluation at the National Wildlife Health Center. These malformations are described in detail and classified into four major categories: (1) no limb (amelia); (2) multiple limbs or limb elements (polymelia, polydactyly, polyphalangy); (3) reduced limb segments or elements (phocomelia, ectromelia, ectrodactyly, and brachydactyly; and (4) distally complete but malformed limb (bone rotations, bridging, skin webbing, and micromelia). Results Amelia and reduced segments and/or elements were the most common finding. Frogs with bilateral hind limb malformations were not common, and in only eight of these 22 frogs were the malformations symmetrical. Malformations of a given type tended to occur in frogs collected from the same site, but the types of malformations varied widely among all three states, and between study sites within Minnesota. Conclusions Clustering of malformation type suggests that developmental events may produce a variety of phenotypes depending on the timing, sequence, and severity of the environmental insult. Hind limb malformations in free-living frogs transcend current mechanistic explanations of tetrapod limb development.

A new strategic neurosurgical planning tool for brainstem cavernous malformations using interactive computer graphics with multimodal fusion images.

PubMed

Kin, Taichi; Nakatomi, Hirofumi; Shojima, Masaaki; Tanaka, Minoru; Ino, Kenji; Mori, Harushi; Kunimatsu, Akira; Oyama, Hiroshi; Saito, Nobuhito

2012-07-01

In this study, the authors used preoperative simulation employing 3D computer graphics (interactive computer graphics) to fuse all imaging data for brainstem cavernous malformations. The authors evaluated whether interactive computer graphics or 2D imaging correlated better with the actual operative field, particularly in identifying a developmental venous anomaly (DVA). The study population consisted of 10 patients scheduled for surgical treatment of brainstem cavernous malformations. Data from preoperative imaging (MRI, CT, and 3D rotational angiography) were automatically fused using a normalized mutual information method, and then reconstructed by a hybrid method combining surface rendering and volume rendering methods. With surface rendering, multimodality and multithreshold techniques for 1 tissue were applied. The completed interactive computer graphics were used for simulation of surgical approaches and assumed surgical fields. Preoperative diagnostic rates for a DVA associated with brainstem cavernous malformation were compared between conventional 2D imaging and interactive computer graphics employing receiver operating characteristic (ROC) analysis. The time required for reconstruction of 3D images was 3-6 hours for interactive computer graphics. Observation in interactive mode required approximately 15 minutes. Detailed anatomical information for operative procedures, from the craniotomy to microsurgical operations, could be visualized and simulated three-dimensionally as 1 computer graphic using interactive computer graphics. Virtual surgical views were consistent with actual operative views. This technique was very useful for examining various surgical approaches. Mean (±SEM) area under the ROC curve for rate of DVA diagnosis was significantly better for interactive computer graphics (1.000±0.000) than for 2D imaging (0.766±0.091; p<0.001, Mann-Whitney U-test). The authors report a new method for automatic registration of preoperative imaging data from CT, MRI, and 3D rotational angiography for reconstruction into 1 computer graphic. The diagnostic rate of DVA associated with brainstem cavernous malformation was significantly better using interactive computer graphics than with 2D images. Interactive computer graphics was also useful in helping to plan the surgical access corridor.

Surgical Management and Long-Term Seizure Outcome After Surgery for Temporal Lobe Epilepsy Associated with Cerebral Cavernous Malformations.

PubMed

Yang, Peng-Fan; Pei, Jia-Sheng; Jia, Yan-Zeng; Lin, Qiao; Xiao, Hui; Zhang, Ting-Ting; Zhong, Zhong-Hui

2018-02-01

Operative strategies for cerebral cavernous malformation (CCM)-associated temporal lobe epilepsy and timing of surgical intervention continue to be debated. This study aimed to establish an algorithm to evaluate the efficacy of surgical intervention strategies, to maximize positive surgical outcomes and minimize postsurgical neurologic deficits. 47 patients having undergone operation for CCM-associated temporal lobe epilepsy were retrospectively reviewed. They had received a diagnostic series for seizure localization, including long-term video electroencephalography (vEEG), high-resolution magnetic resonance imaging (MRI), and positron emission tomography-computed tomography (PET-CT). In patients with mesial temporal lobe CCMs, the involved structures (amygdala, hippocampus, or parahippocampal gyrus) were resected in addition to the lesions. Patients with neocortical epileptogenic CCM underwent extended lesionectomy guided by intraoperative electrocorticography; further performance of amygdalohippocampectomy depended on the extent of hippocampal epileptogenicity. The study cohort contained 28 patients with drug-resistant epilepsy (DRE), 12 with chronic epilepsy (CE), and 7 with sporadic seizure (SS). Normal temporal lobe metabolism was seen in 7/7 patients of the SS group. Hypometabolism was found in all patients with chronic disease except for those with posterior inferior and middle temporal gyrus cavernous malformations (CMs). Of the 31 patients with superficial neocortical CCM, 7 had normal PET without hippocampal sclerosis, 14 had ipsilateral temporal lobe hypometabolism without hippocampal sclerosis, and 10 had obvious hippocampal sclerosis and hypometabolism. Seizure freedom in DRE, CE, and SS was 82.1%, 75%, and 100%, respectively. A significant difference was found between lesion laterality and postoperative seizure control; the rate was lower in left-sided cases because of less aggressive resection. Our study demonstrates that the data from the presurgical evaluation, particularly regarding CM location, responsiveness to antiepileptic drugs, and temporal lobe metabolism, are crucial parameters for choosing surgical approaches to CCM-associated temporal lobe epilepsy. By this operative strategy, patients may receive maximized seizure control and minimized postsurgical neurologic sequelae. Copyright © 2017 Elsevier Inc. All rights reserved.

Morphometric features of posterior cranial fossa are different between Chiari I malformation with and without syringomyelia.

PubMed

Yan, Huang; Han, Xiao; Jin, Mengran; Liu, Zhen; Xie, Dingding; Sha, Shifu; Qiu, Yong; Zhu, Zezhang

2016-07-01

To investigate whether the posterior cranial fossa (PCF) morphology in Chiari I malformation without syringomyelia (also called syrinx) (CMI-only) is different from that in Chiari I malformation with syrinx (CMI-S). Nineteen CMI patients without syrinx constituted the CMI-only group, whereas 48 CMI patients with syrinx were assigned to the CMI-S group. Another cohort of 40 age-matched asymptomatic adolescents was enrolled to serve as the control group. Six measurements were evaluated and compared between these three groups from T1-weighted magnetic resonance (MR) imaging, including the length of the clivus (AB), the anteroposterior diameter of the foramen magnum (BC), the length of the supraocciput (CD), the anteroposterior diameter of the posterior fossa (DA), the posterior fossa height (BE) and the clivus gradient ([Formula: see text]). The posterior cranial fossa morphology in relation to syrinx severity was also investigated. Compared to the normal controls, the AB, CD, DA, BE and [Formula: see text] were significantly larger in the CMI-S group. Similar changes in AB, CD, DA and BE were also demonstrated in the CMI-only group, while the clivus gradient ([Formula: see text]) was found to be normal when compared with the control group. A significantly decreased clivus gradient was observed in the CMI-S group as compared to CMI-only group. In addition, the clivus was significantly flattened in patients with a distended-syrinx in comparison to those with a non-distended syrinx. Small size of the posterior fossa was detected both in CMI cases with and without syrinx. The clivus gradient served as the only morphologic difference in the PCF between CMI-S and CMI-only patients and was correlated with the severity of the syrinx, may support the theory that the restricted circulation of cerebrospinal fluid at the anterior paramedial subarachnoid space contributes to the formation of a syrinx.

Infundibulopelvic stenosis in children

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lucaya, J.; Enriquez, G.; Delgado, R.

1984-03-01

Of 11,500 children who underwent excretory urography during a 17-year period, three were found to have the rare renal malformation infundibulopelvic stenosis, characterized by caliceal dilatation, infundibular stenosis, and hypoplasia or stenosis of the renal pelvis. The contralateral kidney was absent in two cases and normal in the other. Voiding cystourethrograms were normal in all three. Renal sonography showed a variable degree of caliceal dilatation without associated pelvic dilatation. The diagnosis was confirmed by retrograde ureteropyelography in one case. Two patients were followed for 12 and 18 months, respectively; both remained asymptomatic with normal renal function, and sequential sonographic examinationsmore » of their kidneys have shown no significant changes. The third patient died of an unrelated condition. Infundibulopelvic stenosis has highly characteristic radiographic features, and prognosis is good for most affected patients.« less

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

PubMed Central

Vissers, Lisenka E. L. M. ; de Vries, Bert B. A. ; Osoegawa, Kazutoyo ; Janssen, Irene M. ; Feuth, Ton ; Choy, Chik On ; Straatman, Huub ; van der Vliet, Walter ; Huys, Erik H. L. P. G. ; van Rijk, Anke ; Smeets, Dominique ; van Ravenswaaij-Arts, Conny M. A. ; Knoers, Nine V. ; van der Burgt, Ineke ; de Jong, Pieter J. ; Brunner, Han G. ; van Kessel, Ad Geurts ; Schoenmakers, Eric F. P. M. ; Veltman, Joris A. 

2003-01-01

Microdeletions and microduplications, not visible by routine chromosome analysis, are a major cause of human malformation and mental retardation. Novel high-resolution, whole-genome technologies can improve the diagnostic detection rate of these small chromosomal abnormalities. Array-based comparative genomic hybridization allows such a high-resolution screening by hybridizing differentially labeled test and reference DNAs to arrays consisting of thousands of genomic clones. In this study, we tested the diagnostic capacity of this technology using ∼3,500 flourescent in situ hybridization–verified clones selected to cover the genome with an average of 1 clone per megabase (Mb). The sensitivity and specificity of the technology were tested in normal-versus-normal control experiments and through the screening of patients with known microdeletion syndromes. Subsequently, a series of 20 cytogenetically normal patients with mental retardation and dysmorphisms suggestive of a chromosomal abnormality were analyzed. In this series, three microdeletions and two microduplications were identified and validated. Two of these genomic changes were identified also in one of the parents, indicating that these are large-scale genomic polymorphisms. Deletions and duplications as small as 1 Mb could be reliably detected by our approach. The percentage of false-positive results was reduced to a minimum by use of a dye-swap-replicate analysis, all but eliminating the need for laborious validation experiments and facilitating implementation in a routine diagnostic setting. This high-resolution assay will facilitate the identification of novel genes involved in human mental retardation and/or malformation syndromes and will provide insight into the flexibility and plasticity of the human genome. PMID:14628292

[Analysis of the speech discrimination scores of patients with congenital unilateral microtia and external auditory canal atresia in noise].

PubMed

Zhang, Y; Li, D D; Chen, X W

2017-06-20

Objective: Case-control study analysis of the speech discrimination of unilateral microtia and external auditory canal atresia patients with normal hearing subjects in quiet and noisy environment. To understand the speech recognition results of patients with unilateral external auditory canal atresia and provide scientific basis for clinical early intervention. Method: Twenty patients with unilateral congenital microtia malformation combined external auditory canal atresia, 20 age matched normal subjects as control group. All subjects used Mandarin speech audiometry material, to test the speech discrimination scores (SDS) in quiet and noisy environment in sound field. Result: There's no significant difference of speech discrimination scores under the condition of quiet between two groups. There's a statistically significant difference when the speech signal in the affected side and noise in the nomalside (single syllable, double syllable, statements; S/N=0 and S/N=-10) ( P <0.05). There's no significant difference of speech discrimination scores when the speech signal in the nomalside and noise in the affected side. There's a statistically significant difference in condition of the signal and noise in the same side when used one-syllable word recognition (S/N=0 and S/N=-5) ( P <0.05), while double syllable word and statement has no statistically significant difference ( P >0.05). Conclusion: The speech discrimination scores of unilateral congenital microtia malformation patients with external auditory canal atresia under the condition of noise is lower than the normal subjects. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

The Cerebellar Dysplasia of Chiari II Malformation as Revealed by Eye Movements

PubMed Central

Salman, Michael S.; Dennis, Maureen; Sharpe, James A.

2011-01-01

Introduction Chiari type II malformation (CII) is a developmental deformity of the hindbrain. We have previously reported that many patients with CII have impaired smooth pursuit, while few make inaccurate saccades or have an abnormal vestibulo-ocular reflex. In contrast, saccadic adaptation and visual fixation are normal. In this report, we correlate results from several eye movement studies with neuroimaging in CII. We present a model for structural changes within the cerebellum in CII. Methods Saccades, smooth pursuit, the vestibulo-ocular reflex, and visual fixation were recorded in 21 patients with CII, aged 8–19 years and 39 age-matched controls, using an infrared eye tracker. Qualitative and quantitative MRI data were correlated with eye movements in 19 CII patients and 28 controls. Results Nine patients with CII had abnormal eye movements. Smooth pursuit gain was subnormal in eight, saccadic accuracy abnormal in four, and vestibulo-ocular reflex gain abnormal in three. None had fixation instability. Patients with CII had a significantly smaller cerebellar volume than controls, and those with normal eye motion had an expanded midsagittal vermis compared to controls. However, patients with abnormal eye movements had a smaller (non-expanded) midsagittal vermis area, posterior fossa area and medial cerebellar volumes than CII patients with normal eye movements. Conclusions The deformity of CII affects the structure and function of the cerebellum selectively and differently in those with abnormal eye movements. We propose that the vermis can expand when compressed within a small posterior fossa in some CII patients, thus sparing its ocular motor functions. PMID:19960749

Color-coded perfusion analysis of CEUS for pre-interventional diagnosis of microvascularisation in cases of vascular malformations.

PubMed

Teusch, V I; Wohlgemuth, W A; Piehler, A P; Jung, E M

2014-01-01

Aim of our pilot study was the application of a contrast-enhanced color-coded ultrasound perfusion analysis in patients with vascular malformations to quantify microcirculatory alterations. 28 patients (16 female, 12 male, mean age 24.9 years) with high flow (n = 6) or slow-flow (n = 22) malformations were analyzed before intervention. An experienced examiner performed a color-coded Doppler sonography (CCDS) and a Power Doppler as well as a contrast-enhanced ultrasound after intravenous bolus injection of 1 - 2.4 ml of a second-generation ultrasound contrast medium (SonoVue®, Bracco, Milan). The contrast-enhanced examination was documented as a cine sequence over 60 s. The quantitative analysis based on color-coded contrast-enhanced ultrasound (CEUS) images included percentage peak enhancement (%peak), time to peak (TTP), area under the curve (AUC), and mean transit time (MTT). No side effects occurred after intravenous contrast injection. The mean %peak in arteriovenous malformations was almost twice as high as in slow-flow-malformations. The area under the curve was 4 times higher in arteriovenous malformations compared to the mean value of other malformations. The mean transit time was 1.4 times higher in high-flow-malformations compared to slow-flow-malformations. There was no difference regarding the time to peak between the different malformation types. The comparison between all vascular malformation and surrounding tissue showed statistically significant differences for all analyzed data (%peak, TTP, AUC, MTT; p < 0.01). High-flow and slow-flow vascular malformations had statistically significant differences in %peak (p < 0.01), AUC analysis (p < 0.01), and MTT (p < 0.05). Color-coded perfusion analysis of CEUS seems to be a promising technique for the dynamic assessment of microvasculature in vascular malformations.

Quantification of shape and cell polarity reveals a novel mechanism underlying malformations resulting from related FGF mutations during facial morphogenesis

PubMed Central

Li, Xin; Young, Nathan M.; Tropp, Stephen; Hu, Diane; Xu, Yanhua; Hallgrímsson, Benedikt; Marcucio, Ralph S.

2013-01-01

Fibroblast growth factor (FGF) signaling mutations are a frequent contributor to craniofacial malformations including midfacial anomalies and craniosynostosis. FGF signaling has been shown to control cellular mechanisms that contribute to facial morphogenesis and growth such as proliferation, survival, migration and differentiation. We hypothesized that FGF signaling not only controls the magnitude of growth during facial morphogenesis but also regulates the direction of growth via cell polarity. To test this idea, we infected migrating neural crest cells of chicken embryos with  replication-competent avian sarcoma virus expressing either FgfR2C278F, a receptor mutation found in Crouzon syndrome or the ligand Fgf8. Treated embryos exhibited craniofacial malformations resembling facial dysmorphologies in craniosynostosis syndrome. Consistent with our hypothesis, ectopic activation of FGF signaling resulted in decreased cell proliferation, increased expression of the Sprouty class of FGF signaling inhibitors, and repressed phosphorylation of ERK/MAPK. Furthermore, quantification of cell polarity in facial mesenchymal cells showed that while orientation of the Golgi body matches the direction of facial prominence outgrowth in normal cells, in FGF-treated embryos this direction is randomized, consistent with aberrant growth that we observed. Together, these data demonstrate that FGF signaling regulates cell proliferation and cell polarity and that these cell processes contribute to facial morphogenesis. PMID:23906837

Disordered vertebral and rib morphology in pudgy mice. Structural relationships to human scoliosis.

PubMed

Shapiro, Frederic

2016-01-01

Normal and abnormal vertebral development have been studied over the past 200 years at increasing levels of resolution as techniques for biological investigation have improved. Disordered development of the axial skeleton from the early embryonic period on leads to structurally malformed vertebrae and intervertebral discs and ribs causing the severe deformities of scoliosis, kyphosis, and kyphoscoliosis. Developmental malformation of the axial skeleton therefore has led to considerable biological and clinical interest. This work will detail our studies on the structural deformities of the vertebral column and adjacent ribs in the pudgy mouse [1] caused by mutations in the delta-like 3 (Dll3) gene of the Notch family [2]. While gene abnormalities in the pudgy mouse have been outlined, there has been no in-depth assessment of the histopathology of the pudgy vertebral and rib abnormalities that this study will provide. In addition, although congenital scoliosis has been recognized as a clinical problem since the mid-nineteenth century (1800s) [3] and accurately defined by radiography since the early twentieth century (1900s) [4-6], there have been few detailed histopathologic studies of human cases. We will also relate our histopathologic findings in the pudgy mouse to the histopathology of human vertebral and rib malformations in clinical cases of congenital scoliosis, one of which we defined in detail previously [7].

Management of severe constipation in children.

PubMed

Noviello, C; Romano, M; Zangari, A; Papparella, A; Martino, A; Cobellis, G

2013-04-01

Constipation is a common pediatric problem. Sometimes the hospitalization is necessary and in these patients the organic cause should be verified. The authors report their experience in the management of children with severe constipation. Anorectal manometry (ARM) was performed after a careful examination of perineum and bowel disimpaction. Once organic cause had be excluded, the patient got medical therapy. If recto-anal inhibitory reflex (RAIR) was absent, not collaborative patient or medical treatment failed, the child underwent contrast enema (CE) and rectal suction biopsies (RSB). Local anesthetics were used for anal fissures or internal anal sphincter (IAS) hypertonia. Anal malformations and Hirschsprung's disease (HD) were surgically treated. Posterior sagittal anorectoplasty was performed for anal malformations. In 5 years 98 children (63 males) were observed (mean age 6 years). 5 children were premature for gestational age, 4 presented failure to thrive, 5 anal malformations and 45 anal fissures. ARM was performed in 87 children and 74 of them showed normal RAIR. Hypertonia of the IAS was recorded in 38 patients. RAIR was absent/unclear in 13 patients. Follow-up revealed 6 patients (negative to ARM) with poor results without oral laxative. CE was performed in 19 children (2 positive cases) and RBS in 25 patients (2 cases of HD). Children with severe constipation must be carefully observed and studied because of not negligible incidence of organic cause. The first step in the management of these patients is the evacuation of the fecaloma.

An Australian population study of factors associated with MRI patterns in cerebral palsy.

PubMed

Reid, Susan M; Dagia, Charuta D; Ditchfield, Michael R; Carlin, John B; Meehan, Elaine M; Reddihough, Dinah S

2014-02-01

The aim of this study was to describe the distribution of magnetic resonance imaging (MRI) patterns in a large population sample of children with cerebral palsy (CP) and to examine associations between MRI patterns, and antenatal and perinatal variables. Data were retrieved from the Victorian CP Register for 884 children (527 males, 357 females) born between 1999 and 2006. Postneonatal MRI was classified for 594 children. For 563 children (329 males, 234 females) for whom classification was to a single MRI pattern, the frequency of each variable was compared between patterns and with the population frequency. White matter injury was the most common MRI pattern (45%), followed by grey matter injury (14%), normal imaging (13%), malformations (10%), focal vascular insults (9%), and miscellaneous patterns (7%). Parity, birth gestation, level of neonatal care, Apgar score, and time to established respiration varied between MRI patterns (p<0.01). Nulliparity was most strongly associated with focal vascular insults, whereas multiparity was associated only with malformations. Grey matter injury was not associated with birth in a tertiary unit, but was strongly associated with severe perinatal compromise. The frequency of neonatal seizures and of nursery admissions was lowest among children with malformations. As known risk factors for CP are differentially associated with specific MRI patterns, future exploration of causal pathways might be facilitated when performed in pathogenically defined groups. © 2013 Mac Keith Press.

cis-Regulatory Mutations Are a Genetic Cause of Human Limb Malformations

PubMed Central

VanderMeer, Julia E.; Ahituv, Nadav

2011-01-01

The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves. PMID:21509892

Clinical and scientific results in perinatal care of pregnancy complicated by insulin dependent diabetes mellitus in Croatia.

PubMed

Djelmis, J

1998-01-01

At the Department of Obstetrics and Gynecology, Perinatal Unit for Diabetes and Fetal Growth, School of Medicine, Zagreb, perinatal care of pregnancies complicated with insulin dependent diabetes melitus (IDDM), has been performed for more than 36 years. The intention of this review is to show our own results in the management of IDDM pregnancies and the latest clinical advances in perinatal care of such pregnancies. Pregnancy complicated with IDDM is at risk because of numerous maternal, fetal and neonatal complications. Recent advances in medicine, especially in diabetology and perinatology, helps clinician avoid or lessen antenatal or perinatal complications in IDDM pregnancies. The main result of improved perinatal care is that today fetal and neonatal mortality in IDDM pregnancy is almost equal to that of healthy pregnant population. Intensive preconceptual care and optimal regulation of IDDM have resulted not only in decreased perinatal mortality but also in a decreased rate of congenital malformation. Tight glycemia control during pregnancy has a beneficial effect on fetal growth. Intensive control of fetal growth, verification of lung maturation at term by amniocenthesis, and control of fetal oxygenation will result in delivery of a mature eutrophic newborn with the lowest rate of neonatal complications possible. Perinatal mortality of less than 2% in IDDM pregnancy can be obtained by planned delivery between 38 and 39 weeks of gestation by either vaginal route or cesarean section, depending on indications. After delivery, intensive care of the newborn is necessary.

Prevalence of skeletal and eye malformations in frogs from north-central United States: estimations based on collections from randomly selected sites.

PubMed

Schoff, Patrick K; Johnson, Catherine M; Schotthoefer, Anna M; Murphy, Joseph E; Lieske, Camilla; Cole, Rebecca A; Johnson, Lucinda B; Beasley, Val R

2003-07-01

Skeletal malformation rates for several frog species were determined in a set of randomly selected wetlands in the north-central USA over three consecutive years. In 1998, 62 sites yielded 389 metamorphic frogs, nine (2.3%) of which had skeletal or eye malformations. A subset of the original sites was surveyed in the following 2 yr. In 1999, 1,085 metamorphic frogs were collected from 36 sites and 17 (1.6%) had skeletal or eye malformations, while in 2000, examination of 1,131 metamorphs yielded 16 (1.4%) with skeletal or eye malformations. Hindlimb malformations predominated in all three years, but other abnormalities, involving forelimb, eye, and pelvis were also found. Northern leopard frogs (Rana pipiens) constituted the majority of collected metamorphs as well as most of the malformed specimens. However, malformations were also noted in mink frogs (R. septentrionalis), wood frogs (R. sylvatica), and gray tree frogs (Hyla spp.). The malformed specimens were found in clustered sites in all three years but the cluster locations were not the same in any year. The malformation rates reported here are higher than the 0.3% rate determined for metamorphic frogs collected from similar sites in Minnesota in the 1960s, and thus, appear to represent an elevation of an earlier baseline malformation rate.

Prevalence of skeletal and eye malformations in frogs from north-central United States: estimations based on collections from randomly selected sites

USGS Publications Warehouse

Schoff, P.K.; Johnson, C.M.; Schotthoefer, A.M.; Murphy, J.E.; Lieske, C.; Cole, Rebecca A.; Johnson, L.B.; Beasley, V.R.

2003-01-01

Skeletal malformation rates for several frog species were determined in a set of randomly selected wetlands in the north-central USA over three consecutive years. In 1998, 62 sites yielded 389 metamorphic frogs, nine (2.3%) of which had skeletal or eye malformations. A subset of the original sites was surveyed in the following 2 yr. In 1999, 1,085 metamorphic frogs were collected from 36 sites and 17 (1.6%) had skeletal or eye malformations, while in 2000, examination of 1,131 metamorphs yielded 16 (1.4%) with skeletal or eye malformations. Hindlimb malformations predominated in all three years, but other abnormalities, involving forelimb, eye, and pelvis were also found. Northern leopard frogs (Rana pipiens) constituted the majority of collected metamorphs as well as most of the malformed specimens. However, malformations were also noted in mink frogs (R. septentrionalis), wood frogs (R. sylvatica), and gray tree frogs (Hyla spp.). The malformed specimens were found in clustered sites in all three years but the cluster locations were not the same in any year. The malformation rates reported here are higher than the 0.3% rate determined for metamorphic frogs collected from similar sites in Minnesota in the 1960s, and thus, appear to represent an elevation of an earlier baseline malformation rate.

A novel non-contrast-enhanced MRA using silent scan for evaluation of brain arteriovenous malformation: A case report and review of literature.

PubMed

Moon, Jin Il; Baek, Hye Jin; Ryu, Kyeong Hwa; Park, Hyun

2017-11-01

Brain arteriovenous malformations (AVMs) are congenital vascular abnormalities involving abnormal connections between arteries and veins. In clinical practice, imaging studies help evaluate feeding arteries, niduses, draining venous systems, and coexisting complications in patients with brain AVM. They also have an impact on decision-making regarding clinical management. We applied a novel non-contrast-enhanced MR angiography (MRA) technique, termed "silent MRA," for evaluating an incidental brain AVM. Here, we describe the clinical case with radiological review and highlight the technical background and clinical usefulness of silent MRA. A 60-year-old woman underwent neuroimaging study including MRA to evaluate intracranial cause of headache. The brain AVM, including its nidus and draining veins, was conspicuously delineated on silent MRA images; these findings correlated well with conventional angiographic findings. The patient did not receive interventional or surgical treatment. The patient is being followed up regularly at the outpatient department. The silent MRA can be a suitable imaging modality for repeated follow-up evaluation for not only brain AVMs but also various intracranial vascular diseases without the use of contrast materials.

Intraoperative double-J stent insertion in children with scintigraphic impaired renal function and obstructive urinary tract malformation.

PubMed

Erculiani, E; Zampieri, N; Cecchetto, M; Camoglio, F S; Giacomello, L

2008-03-01

Ureteral double-J (DJ) stents are frequently used in modern urologic practice. At present the role of stents in urological and surgical practice and their efficacy in paediatric age are not yet clear. The aim of this study is to evaluate advantages and efficacy of ureteral stents, correlating clinical and radiological data with the permanence of stent in situ. Between July 1999 and July 2004 surgery with ureteral stenting was performed on 24 consecutive patients aged between 2 and 13.5 months with scintigraphic impaired renal function due to an obstructive urinary tract malformation. During the study the performance and the efficacy of indwelling stent have been evaluated through clinical and radiological variables: pre-, intra-, and post stenting blood tests, ultrasonographic and scintigraphic parameters were also evaluated. The stent insertion was useful to improve renal parenchymal thickness and renal growth. No correlation was found between improved blood tests and scintigraphic values. The improvements of clinical and radiological data were strictly correlated with the time of stenting (>3 months). The insertion of DJ stents as long-term internal urinary diversion is useful and safe. Late complications related to the use of stents are not frequent.

Oral hypoglycemic agents for gestational diabetes mellitus?

PubMed

Maymone, Ana Cristina; Baillargeon, Jean-Patrice; Ménard, Julie; Ardilouze, Jean-Luc

2011-03-01

Gestational diabetes mellitus (GDM), the most frequent medical complication of pregnancy, is associated with several adverse outcomes over the short- and long-term for both mother and offspring. Standard treatment for GDM consists of insulin injections. Oral hypoglycemic agents (OHAs), on the other hand, are still the subject of controversy. Although OHAs are seemingly as efficient as insulin and may provide better quality of life, congenital malformations and unknown long-term effects are still feared. Recent data on the pharmacokinetics of two OHAs (glyburide and metformin) and their clinical use for GDM are reviewed, with a focus on clinical trials and observational studies comparing insulin with glyburide or metformin (1960 - 2010). The review will provide a comprehensive overview of the pros and cons of OHA usage, an appreciation of OHAs' efficiency for the purpose of controlling glycemia and embryogenetic basics relating to congenital malformations. While insulin treatment is an effective therapy for controlling maternal glycemia, it nevertheless requires sufficient education and skills on the part of the patient to manage properly and may cause hypoglycemia, fear and anxiety. Oral treatment as a more user-friendly alternative may thus facilitate the control of GDM in some patients.

MRI of acquired posterior urethral diverticulum following surgery for anorectal malformations.

PubMed

Podberesky, Daniel J; Weaver, Nicholas C; Anton, Christopher G; Lawal, Taiwo; Hamrick, Miller C; Alam, Shumyle; Peña, Alberto; Levitt, Marc A

2011-09-01

Posterior urethral diverticulum (PUD) is one of the most common postoperative complications associated with anorectal malformation (ARM) correction. To describe our MRI protocol for evaluating acquired PUD following ARM surgery, and associated imaging findings. Two radiologists retrospectively reviewed 61 pelvic MRI examinations performed for postoperative ARM for PUD identification and characteristics. Associated clinical, operative and cystoscopy reports were also reviewed and compared to MRI. An abnormal retrourethral focus suspicious for PUD was identified at MRI in 13 patients. Ten of these patients underwent subsequent surgery or cystoscopy, and PUD was confirmed in five. All of the confirmed PUD cases appeared as cystic lesions that were at least 1 cm in diameter in two imaging planes. Four of the false-positive cases were punctate retrourethral foci that were visible only on a single MRI plane. One patient had a seminal vesical cyst mimicking a PUD. Pelvic MRI can be a useful tool in the postoperative assessment of suspected PUD associated with ARM. Radiologists should have a high clinical suspicion for a postoperative PUD when a cystic lesion posterior to the bladder/posterior urethra is encountered on two imaging planes in these patients.

Acute Respiratory Distress Syndrome after Onyx Embolization of Arteriovenous Malformation

PubMed Central

Tawil, Isaac; Carlson, Andrew P.; Taylor, Christopher L.

2011-01-01

Purpose. We report a case of a 60-year-old male who underwent sequential Onyx embolizations of a cerebral arteriovenous malformation (AVM) which we implicate as the most likely etiology of subsequent acute respiratory distress syndrome (ARDS). Methods. Case report and literature review. Results. Shortly after the second Onyx embolization procedure, the patient declined from respiratory failure secondary to pulmonary edema. Clinical entities typically responsible for pulmonary edema including cardiac failure, renal failure, iatrogenic volume overload, negative-pressure pulmonary edema, and infectious etiologies were evaluated and excluded. The patient required mechanical ventilatory support for several days, delaying operative resection. The patient met clinical and radiographic criteria for ARDS. After excluding other etiologies of ARDS, we postulate that ARDS developed as a result of Onyx administration. The Onyx copolymer is dissolved in dimethyl sulfoxide (DMSO), a solvent excreted through the lungs and has been implicated in transient pulmonary side effects. Additionally, a direct toxic effect of the Onyx copolymer is postulated. Conclusion. Onyx embolization and DMSO toxicity are implicated as the etiology of ARDS given the lack of other inciting factors and the close temporal relationship. A strong physiologic rationale provides further support. Clinicians should consider this uncommon but important complication. PMID:21687580

A Systematic Review of Acquired Uterine Arteriovenous Malformations: Pathophysiology, Diagnosis, and Transcatheter Treatment

PubMed Central

Yoon, Daniel J.; Jones, Megan; Taani, Jamal Al; Buhimschi, Catalin; Dowell, Joshua D.

2015-01-01

Objective An acquired uterine arteriovenous malformation (AVM) is a rare cause of vaginal bleeding and, although hysterectomy is the definitive therapy, transcatheter embolization (TCE) provides an alternative treatment option. This systematic review presents the indications, technique, and outcomes for transcatheter treatment of the acquired uterine AVMs. Study Design Literature databases were searched from 2003 to 2013 for eligible clinical studies, including the patient characteristics, procedural indication, results, complications, as well as descriptions on laterality and embolic agents utilized. Results A total of 40 studies were included comprising of 54 patients (average age of 33.4 years). TCE had a primary success rate with symptomatic control of 61% (31 patients) and secondary success rate of 91% after repeated embolization. When combined with medical therapy, symptom resolution was noted in 48 (85%) patients without more invasive surgical procedures. Conclusion Low-level evidence supports the role of TCE, including in the event of persistent bleeding following initial embolization, for the treatment of acquired uterine AVMs. The variety of embolic agents and laterality of approach delineate the importance of refining procedural protocols in the treatment of the acquired uterine AVM. Condensation A review on the management of patients with acquired uterine AVMs. PMID:26929872

Orofacial lymphatic malformation: management with a three steps diode laser protocol

NASA Astrophysics Data System (ADS)

Miccoli, Simona; Tempesta, Angela; Limongelli, Luisa; Caporusso, Concetta; Di Venere, Daniela; Petruzzi, Massimo; Lacaita, Mariagrazia; Maiorano, Eugenio; Favia, Gianfranco

2014-01-01

Lymphatic Malformation (LM) according to ISSVA Classification, is a rare benign disorder with unknown aetiology. LM may grow slowly over years or develop rapidly over the course of days becoming a bulky lump, infected or bleeding. We propose our three steps Diode Laser protocol for LM management, based on its persistent vascular blood component. 1. Histological and cytological examination, to evaluate the vascular blood component (10-40%), shows mature lymphocytes with red blood cells and endothelial cells. 2. Diode Laser Photocoagulation (DLP) in pulsed mode (on 100ms / off 400ms) at 10W and 800nm with a 300μm fibre kept 2-3mm from the tissues, to reduce the lesion. 3. Diode Laser surgical excision in pulsed mode (on 50ms / off 200ms) at 8W and 800nm with a 300 μm fibre in close contact with tissues, and histological intraoperative margins control on frozen sections. Even if it has inconstant results (lesions decreasing rate is 10% to 40% proportionally to vascular blood component), DLP simplifies the last and the most important step. Use of Diode Laser also in surgical excision reduces intra and postoperatory complications.

Minimally invasive repair of pectus carinatum and how to deal with complications

PubMed Central

Aragone, Xavier; Blanco, Javier Borbore; Ciano, Alejandro; Abramson, Leonardo

2016-01-01

While less common than pectus excavatum, pectus carinatum is also a chest wall deformity affecting males in higher proportion than women. Patient requests for a solution of this disease occur especially during the growth spurt of puberty when this malformation becomes more obvious and difficult to conceal. Those people suffering from pectus carinatum are very likely subject to behavioral changes and negative personality impacts. By compressing the protruding anterior region of the chest wall we achieve correction of the chest contour and simultaneous lateral expansion of the depressed costochondral arches. This original technique and the procedure to apply it fit within the category of minimally invasive surgery. The compression system acts in a way similar to that of orthodontic braces. Two rectangular fixation plates are fixed to the compression strut with screws. The plates have threaded holes along a groove in the central portion, and two holes at both ends used to attach them to the ribs by means of steel wire suture. The compression strut has to be modified into a convex shape to adapt it to the particular characteristics of the patient’s malformation. This molding is done using benders designed as part of the procedure. PMID:29078492

Minimally invasive repair of pectus carinatum and how to deal with complications.

PubMed

Abramson, Horacio; Aragone, Xavier; Blanco, Javier Borbore; Ciano, Alejandro; Abramson, Leonardo

2016-01-01

While less common than pectus excavatum, pectus carinatum is also a chest wall deformity affecting males in higher proportion than women. Patient requests for a solution of this disease occur especially during the growth spurt of puberty when this malformation becomes more obvious and difficult to conceal. Those people suffering from pectus carinatum are very likely subject to behavioral changes and negative personality impacts. By compressing the protruding anterior region of the chest wall we achieve correction of the chest contour and simultaneous lateral expansion of the depressed costochondral arches. This original technique and the procedure to apply it fit within the category of minimally invasive surgery. The compression system acts in a way similar to that of orthodontic braces. Two rectangular fixation plates are fixed to the compression strut with screws. The plates have threaded holes along a groove in the central portion, and two holes at both ends used to attach them to the ribs by means of steel wire suture. The compression strut has to be modified into a convex shape to adapt it to the particular characteristics of the patient's malformation. This molding is done using benders designed as part of the procedure.

Absolute Ethanol Embolisation of Mandibular Arteriovenous Malformations Following Direct Percutaneous Puncture and Release of Coils via a Microcatheter.

PubMed

Wang, D; Su, L; Han, Y; Wang, Z; Zheng, L; Fan, X

2017-06-01

To evaluate the safety, efficacy, and medium-term outcome of a modified technique of ethanol embolisation of mandibular arteriovenous malformations (AVMs) following a direct percutaneous transvenous approach to the release of coils via a microcatheter. From January 2012 to July 2014, 18 consecutive patients (mean age 20.9 years [range 10-35 years]) with symptomatic AVMs of the mandible were enrolled. A microcatheter was inserted into the lesion via a direct percutaneous puncture needle. Electrolytically detachable coils and 0.018 mm coils were super-selectively placed to decrease the flow and volume of the arteriovenous fistulas via a microcatheter. Absolute ethanol was injected to obliterate the fistulas. Clinical follow-up was performed in all patients. Therapeutic outcomes were determined by evaluating the degree of devascularisation at follow-up angiography and symptoms and signs. Transvenous release of coils combined with absolute ethanol embolisation were used in all cases. The amount of ethanol used ranged from 5 to 50 mL (mean 25.7 mL) in a single session. Sixteen of 18 patients were cured, and two had partial remission. Follow-up times ranged from 8 to 26 months (medium 15.7 months), and there was no angiographic recurrence of the lesions. Minor complication occurred in five of the 18 patients. There were no major complications. Absolute ethanol embolisation following a direct percutaneous transvenous approach to release coils via a microcatheter is a feasible, safe, and highly effective method for the management of mandibular AVMs. Copyright © 2017 European Society for Vascular Surgery. Published by Elsevier Ltd. All rights reserved.

Onyx in Brain Arteriovenous Malformation Embolisation.

PubMed

Hashim, Hilwati; Muda, A Sobri; Abdul Aziz, Aida; Abdul Hamid, Zuhanis

2016-07-01

Embolisation has long been used as an adjunct to surgical resection in the treatment of brain arteriovenous malformation (bAVM). The most commonly used embolic material, n-butylcyanoacrylate glue, requires experience and skill to handle its quick and unpredictable flow and polymerisation. A new liquid embolic agent, ethylene vinyl alcohol copolymer (Onyx), is less adhesive and polymerises slowly, which provides better control for radiologists performing embolisation. To report our experience in embolisation using Onyx alone or in combination with histoacryl for bAVM embolisation in our tertiary referral centre. We retrospectively reviewed the anatomy, technical conditions, complications and clinical outcome of all bAVM patients embolised at our centre using Onyx alone or in combination with n-butylcyanoacrylate glue. Between 2010 and 2013, 13 patients [6 (46.2%) male; 7 (53.8%) female; aged, 14-57 years] were included, and a total of 31 embolisations were performed. Clinical presentation included hemorrhage [9 (69.2%)], seizures [2 (15.4%)], and headache [2 (15.4%)]. Most AVMs were located in the brain hemispheres [12 (92.3%)] and measured <3 cm [7 (53.8%]. Complete occlusion of the AVM was obtained in 2 (15.4%) patients; 11 (84.6%) patients had partial occlusion [6 (54.5%) had <50% nidus occlusion]. Complications occurred in four procedures involving 3 patients (morbidity, 23.1%). This resulted in the death of 1 patient (mortality, 7.7%) and complete recovery with no disability in 2 patients. The total nidal occlusion achieved herein is comparable to other similar studies. Our morbidity and mortality were higher compared to other studies which may be attributed to the small number of patients. More data is being collected which may better reflect on our experience.

Diode laser to treat small oral vascular malformations: A prospective case series study.

PubMed

Bacci, Christian; Sacchetto, Luca; Zanette, Gastone; Sivolella, Stefano

2018-02-01

The current work examined a consecutive series of patients presenting vascular malformations (VMs) and venous lakes (VLs) of the lip and oral mucosa who were treated with transmucosal diode laser applications and assessed over a 1 year period. Fifty-nine patients (31 males and 28 females) presenting low-flow VMs or VLs of the oral cavity were treated transmucosally using a diode laser (with an 830 nm operating wavelength and 1.6 W output power) with a 320 µm diameter flexible fiber. All the lesions were assessed 7 days, 30 days, and 1 year after the laser treatment, and the lesion reduction percentage was scored on a one to five scale. The patients were also asked to assess their pain perception daily during the 7 days following the treatment using a visual analog scale (VAS). There were no procedure-related intra- or post-operative complications; only modest pain intensity was reported. Thirty days after the treatment, lesion reduction was described as excellent or good in 52 cases; it was fair or poor in 7. Six patients (F:M ratio 2:4) required a second diode laser application. At the 1 year follow-up, volume reduction was complete in 48 out of 59 patients; there were five recurrences (F:M ratio 3:2). No relevant gender-related differences were noted. The use of diode laser application to treat small oral VMs and VLs was associated to shorter operating times and fewer postoperative complications with respect to the scapel surgery approach. More than one session may nevertheless be required if the anomaly is larger than 10 mm. Lasers Surg. Med. 50:111-116, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Treatment practices for Chiari malformation type I with syringomyelia: results of a survey of the American Society of Pediatric Neurosurgeons.

PubMed

Rocque, Brandon G; George, Timothy M; Kestle, John; Iskandar, Bermans J

2011-11-01

The purpose of this study was to report the results of a survey of the American Society of Pediatric Neurosurgeons (ASPN) on treatment of Chiari malformation Type I (CM-I) with syringomyelia. A questionnaire was circulated during the 2006 meeting of the ASPN, in which surgeons were surveyed on their management of patients with CM-I and syringomyelia. The survey consisted of questions about 4 clinical scenarios, common causes of surgical failures, and complications. There were 72 respondents, representing more than 90% of attendees at the 2006 ASPN meeting and approximately half of the society's members. The majority of respondents (85%) reported that they perform posterior fossa decompression as first-line treatment for CM-I with syringomyelia. Seven percent perform bony decompression alone, 36% open the dura, and 27% shrink the tonsils. Very few respondents indicated that they offer syrinx drainage as first-line therapy (< 3%). Although all respondents reported that they treat symptomatic CM-I/syringomyelia patients surgically, 15% of respondents indicated that they do not operate on asymptomatic patients. Finally, respondents stated that their most common complications are pseudomeningocele and chemical meningitis. This survey, given to a representative group of experienced North American pediatric neurosurgeons, confirms that posterior fossa decompression is still the preferred treatment modality in children with CM-I and syringomyelia, regardless of symptoms. Although most surgeons open the dura, preferred techniques for decompression vary. In contrast to the results of past surveys, conservative follow-up is now only used by a minority of respondents and only in the asymptomatic patient, and primary syrinx drainage seems to have lost popularity. A multicenter trial of surgical outcomes has been designed based on the information from this survey.

Radiosurgery for symptomatic cavernous malformations: A multi-institutional retrospective study in Japan

PubMed Central

Kida, Yoshihisa; Hasegawa, Toshinori; Iwai, Yoshiyasu; Shuto, Takashi; Satoh, Manabu; Kondoh, Takeshi; Hayashi, Motohiro

2015-01-01

Background: A group study for symptomatic cavernous malformation (CM) treated with gamma knife (GK) surgery was performed. Methods: A total of 298 cases collected from 23 GK centers across Japan were included. Hemorrhage was the most common manifestation, followed by seizures and neurological deficits. Most of the lesions were located in the brainstem and basal ganglia, followed by the cerebral or cerebellar hemispheres. The CMs, which had a mean diameter of 14.8 mm, were treated using GK surgery with a mean marginal dose of 14.6 Gy. Results: In terms of hemorrhage-free survival (HFS), a marked dissociation was confirmed between the hemorrhage and seizure groups, while no obvious difference was noted between sexes. Superficial CMs located in cerebellum or lobar regions responded to the treatment better than deeply located CMs in the basal ganglia or brainstem. No significant difference of dose-dependent response was seen for three different ranges of marginal dose: Less than 15 Gy, between 15 and 20 Gy, and more than 20 Gy. Complications were more frequent after a marginal dose of over 15 Gy and in patients with lesions more than 15 mm in diameter. The rates of annual hemorrhage were estimated to be 7.4% during the first 2 years after radiosurgery and 2.8% thereafter. The overall hemorrhage rate after radiosurgery was 4.4%/year/patient. Conclusion: The risk of hemorrhage is considerably reduced after GK treatment. The HFS as well as annual hemorrhage rate after GK treatment was apparently superior to that after conservative treatment for symptomatic CMs. To optimize the success of GK treatment, it is important to reduce the incidence of complications. PMID:26005588

Incorporate Imaging Characteristics Into an Arteriovenous Malformation Radiosurgery Plan Evaluation Model

DOE Office of Scientific and Technical Information (OSTI.GOV)

Zhang Pengpeng; Department of Medical Physics, Memorial Sloan-Kettering Cancer Center, New York, NY; Wu, Leester

Purpose: To integrate imaging performance characteristics, specifically sensitivity and specificity, of magnetic resonance angiography (MRA) and digital subtraction angiography (DSA) into arteriovenous malformation (AVM) radiosurgery planning and evaluation. Methods and Materials: Images of 10 patients with AVMs located in critical brain areas were analyzed in this retrospective planning study. The image findings were first used to estimate the sensitivity and specificity of MRA and DSA. Instead of accepting the imaging observation as a binary (yes or no) mapping of AVM location, our alternative is to translate the image into an AVM probability distribution map by incorporating imagers' sensitivity and specificity,more » and to use this map as a basis for planning and evaluation. Three sets of radiosurgery plans, targeting the MRA and DSA positive overlap, MRA positive, and DSA positive were optimized for best conformality. The AVM obliteration rate (ORAVM) and brain complication rate served as endpoints for plan comparison. Results: In our 10-patient study, the specificities and sensitivities of MRA and DSA were estimated to be (0.95, 0.74) and (0.71, 0.95), respectively. The positive overlap of MRA and DSA accounted for 67.8% {+-} 4.9% of the estimated true AVM volume. Compared with plans targeting MRA and DSA-positive overlap, plans targeting MRA-positive or DSA-positive improved ORAVM by 4.1% {+-} 1.9% and 15.7% {+-} 8.3%, while also increasing the complication rate by 1.0% {+-} 0.8% and 4.4% {+-} 2.3%, respectively. Conclusions: The impact of imagers' quality should be quantified and incorporated in AVM radiosurgery planning and evaluation to facilitate clinical decision making.« less

Treatment of Early-stage Extracranial Arteriovenous Malformations with Intralesional Interstitial Bleomycin Injection: A Pilot Study.

PubMed

Jin, Yunbo; Zou, Yun; Hua, Chen; Chen, Hui; Yang, Xi; Ma, Gang; Chang, Lei; Qiu, Yajing; Lyu, Dongze; Wang, Tianyou; Chang, Shih-Jen; Qiao, Congzhen; Luo, Chunfen; Tremp, Mathias; Lin, Xiaoxi

2018-04-01

Purpose To assess the efficacy and safety of intralesional interstitial bleomycin injection in the treatment of early-stage (Schobinger stage I or II) extracranial arteriovenous malformations (AVMs). Materials and Methods This prospective study involved 34 patients with early-stage AVMs, as defined by the Schobinger staging system. The patients received intralesional interstitial bleomycin injected at a maximum dose of 15 000 IU or 1000 IU per kilogram of body weight for children who weighed less than 15 kg per procedure for a total of 6 months (once every month). Therapeutic outcome was evaluated by the degree of devascularization at angiography and the clinical outcome 3 months after the last treatment. Further follow-up was evaluated based on further clinical outcome. Adverse events were recorded according to the Society of Interventional Radiology classification. Results Of the 34 patients with early-stage AVM, 32 (mean age, 20.5 years; 24 female [75%]) completed the study. The results showed that 27 (84.4%, 95% confidence interval [CI]: 71.1, 97.7) patients were responsive to bleomycin injection, including nine (28.1%) with a complete response. Four (12.5%) patients showed no response, and one (3.1%) patient experienced worsening 3 months after the last treatment. During further follow-up (mean follow-up time, 20.7 months; range, 5-28 months), the outcome remained stable in 31 (96.9%) of the 32 patients. A major complication, anaphylactic shock, was observed in one (3.1%, 95% CI: 0, 9.5) patient. Common minor complications included hyperpigmentation, nausea, pruritus, and bullae. Conclusion Intralesional interstitial bleomycin injection is a feasible approach for early-stage AVMs and yields safe and effective outcomes. © RSNA, 2017.

[Lymphatic malformations in the head and neck area].

PubMed

Wiegand, S; Werner, J A

2016-02-01

Lymphatic malformations are congenital malformations of the lymphatic system. They are mainly located in the head and neck area, and grow proportional to the patients' body growth. Depending on the morphology, it can be distinguished between macrocystic, microcystic and mixed lymphatic malformations. Due to their infiltrative growth, microcystic lymphatic malformations are particularly difficult to treat. Therapeutic approaches include conventional surgical resection, laser therapy, sclerotherapy and systemic drug therapies.

Recurrent Hyperammonemia After Abernethy Malformation Type 2 Closure: a Case Report.

PubMed

Li, Hui; Ma, Zhi; Xie, Ying; Tian, Feng

The Abernethy malformation is a rare congenital malformation defined by the presence of an extrahepatic portosystemic shunt. Although most patients are asymptomatic, clinical encephalopathy is present in 15% of cases. We present a patient with type 2 Abernethy malformation, hyperammonemia, and encephalopathy. Shunt closure was performed successfully using interventional angiography; however, hyperammonemia recurred 3 months later. The diagnosis of Abernethy malformation can be made easily, but the ideal patient management strategy has not yet been established. This is the first reported patient with recurrence of hyperammonemia after interventional treatment; we discuss the therapeutic options for Abernethy malformation.

Trematode infection causes malformations and population effects in a declining New Zealand fish.

PubMed

Kelly, David W; Thomas, Harriet; Thieltges, David W; Poulin, Robert; Tompkins, Daniel M

2010-03-01

1. Animal malformations engender wide public and scientific concern because of associated environmental health risks. This is highlighted by increased incidence of limb malformations in amphibians associated with trematode infections and disturbance. Malformations may signal new emerging disease threats, but whether the phenomenon is broadly applicable across taxa, or has population-scale impacts, is unknown. 2. Malformations are widely reported in fish and, until now, have been attributed mainly to contaminants. We tested whether the trematode Telogaster opisthorchis caused severe malformations, leading to population effects, in Galaxias anomalus, a threatened New Zealand freshwater fish. 3. Experimental infection of larval fish caused increasing spinal malformation and mortality with infection intensity that closely matched field patterns. Field malformation frequency peaked in January (65%), before declining sharply in February (25%) and remaining low thereafter. 4. The peak occurred during a 'critical window' of larval development, with the decline coincident with a population crash, indicating that malformation was causing mortality in the field. 5. The occurrence of such critical developmental windows may explain why this mechanism of population impact has been overlooked. With global environmental stressors predicted to enhance trematode infections, our results show that parasite-induced malformation, and its population-scale impacts, could be more widespread than previously considered.

Expression analysis of an evolutionarily conserved metallophosphodiesterase gene, Mpped1, in the normal and beta-catenin-deficient malformed dorsal telencephalon.

PubMed

Chen, Chun-Ming; Wang, Hsuan-Yao; You, Li-Ru; Shang, Rong-Li; Liu, Fu-Chin

2010-06-01

We report the expression of the mouse Mpped1 in the telencephalon through embryonic stages to adulthood. Using Northern blotting analysis and RNA in situ hybridization (ISH), our data show that Mpped1 is specifically expressed in the brain and is enriched in the cortical plate of the developing telencephalon. Postnatally, the expression of Mpped1 is reduced in the cerebral cortex relative to its levels in the embryonic dorsal telencephalon. Also, Mpped1 expression is sustained in the hippocampal CA1 region. Examination of the expression of Mpped1 and other cortical layer markers by ISH in a malformed beta-catenin null dorsal telencephalon show that the Mpped1-, Cux2-, and Rorbeta-expressing superficial cortical layers are reduced and form patchy patterns, and the Tbr-1-expressing deep-layer neurons are incorrectly located on superficial layers, indicative of a migration defect of cortical neurons in the absence of beta-catenin.

Developmental effects of ambient UV-B light and landfill leachate in Rana blairi and Hyla chrysoscelis.

PubMed

Bruner, M A; Shipman, P A; Rao, M; Bantle, J A

2002-09-01

This study assessed the effects of ambient UV light on the development of two native species of anurans, Rana blairi and Hyla chrysoscelis, during their normal breeding season in Oklahoma. Additionally, the effects of ambient UV light and water contaminated with landfill leachate in Rana blairi were examined. Embryos were collected from the field and distributed equally among replicates of four filter treatments of ambient UV light in experimental tubs filled with either FETAX solution or landfill leachate diluted to 25, 10, and 5% concentrations. Three endpoints (mortality, teratogenesis, and growth) were compared between filter treatments. By itself, UV-B caused no significant effects. Leachate at 10 and 25% concentrations caused 100% mortality across all filter treatments. There was a significant interaction between filter treatment and water toxicity at leachate concentrations of 5% for both malformation and growth. Increased UV-B exposure decreased the malformation rate and increased growth in the leachate treatments.

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.

PubMed

Urquhart, J E; Beaman, G; Byers, H; Roberts, N A; Chervinsky, E; O'Sullivan, J; Pilz, D; Fry, A; Williams, S G; Bhaskar, S S; Khayat, M; Simanovsky, N; Shachar, I B; Shalev, S A; Newman, W G

2016-06-01

Lissencephaly is a phenotypically and genetically heterogeneous group of cortical brain malformations due to abnormal neuronal migration. The identification of many causative genes has increased the understanding of normal brain development. A consanguineous family was ascertained with three siblings affected by a severe prenatal neurodevelopmental disorder characterised by fronto-parietal pachygyria, agenesis of the corpus callosum and progressive severe microcephaly. Autozygosity mapping and exome sequencing identified a homozygous novel single base pair deletion, c.1197delT in DMRTA2, predicted to result in a frameshift variant p.(Pro400Leufs*33). DMRTA2 encodes doublesex and mab-3-related transcription factor a2, a transcription factor key to the development of the dorsal telencephalon. Data from murine and zebrafish knockout models are consistent with the variant of DMTRA2 (DMRT5) as responsible for the cortical brain phenotype. Our study suggests that loss of function of DMRTA2 leads to a novel disorder of cortical development. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature.

PubMed

Cayir, A; Tasdemir, S; Eroz, R; Yuce, I; Orbak, Z; Tatar, A

2013-01-01

We present a male child at 3 years old with Anophthalmia-Plus Syndrome (APS). He has asymmetry of the face and head, left choanal atresia, a sunken facial appearance, microphthalmia in the right eye, severe microphthalmia in the left eye, bilateral low-set ears, scarring from cleft palate surgery. Magnetic resonance imaging (MRI) sections revealed decreased right globe volume, an undeveloped left globe, decreased left optical nerve thickness, Chiari type 2 malformation, left choanal atresia and cleft palate. Echocardiography and abdominal ultrasonography were normal. The patient has a 45 dB conductive hearing loss in the left ear. Repeated thyroid function tests were evaluated as compatible with central hypothyroidism. We report a Fryns Anophthalmia-Plus Syndrome in a child with unusual findings including central hypothyroidism, chiari type 2 malformation, conductive hearing loss and developmental regression. Summary of the features reported in the present case and all 14 previous cases that might be defined as APS.

Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?

PubMed

Segel, Reeval; Levy-Lahad, Ephrat; Pasutto, Francesca; Picard, Elie; Rauch, Anita; Alterescu, Gheona; Schimmel, Michael S

2009-11-01

Microphthalmic syndrome 9 (OMIM601186) is a genetically and phenotypically variable condition, comprising anophthalmia, pulmonary hypoplasia, diaphragmatic hernia, and cardiac malformations (PDAC syndrome). Reported cases have all been associated with fetal/neonatal death or developmental delay. Recessive stimulated by retinoic acid gene 6 homolog (STRA6) mutations have recently been identified as the cause of cases of PDAC in which distinct, "bushy" eyebrows have been observed. We describe a patient with clinical anophthalmia, bushy eyebrows, patent ductus arteriosus, and normal development at age 30 months, who is a compound heterozygote for two novel STRA6 missense mutations. This patient's phenotype is consistent with the multisystemic malformations of PDAC syndrome, but is somewhat milder. This is the first living patient with compound heterozygous STRA6 mutations, which may explain her milder phenotype. We conclude that STRA6 analysis should be considered in all patients with clinical anophthalmia. Genetic counseling should be cautious with respect to long-term developmental outcomes. Copyright 2009 Wiley-Liss, Inc.

Upper limb malformations in chromosome 22q11 deletions

DOE Office of Scientific and Technical Information (OSTI.GOV)

Shalev, S.A.; Dar, H.; Barel, H.

1996-03-29

We read with interest the report of Cormier-Daire et al. in a recent issue of the journal, describing upper limb malformations in DiGeorge syndrome. We observed a family with this group of rare clinical expression of chromosome 22q11 deletions. The proposita was examined in our clinic when she was 4 years old. She was mildly mentally retarded. Clinical evaluation showed normal growth, long thin nose with squared tip, nasal speech, and abundant scalp hair and no cardiac anomalies. The girl was accompanied by her mother. Facial similarities were noted between the two. The mother reported to be treated with oralmore » calcium due to hypoparathyroidism, diagnosed several years ago. Clinical evaluation showed wide flat face, short stature, mild mental retardation, slight hypertelorism, peculiar nose similar to her daughter`s, and nasal speech. No cardiac anomalies were found. Recently, a brother was born. Clinical examination documented large ventriculo-septal defect, retrognathia, narrow palpebral fissures, and long thin nose with squared tip. 1 ref.« less