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Sample records for ependimoma infantil tratamiento

  1. Ependimoma myxopapilar sacro gigante con osteolisis

    PubMed Central

    Ajler, Pablo; Landriel, Federico; Goldschmidt, Ezequiel; Campero, Álvaro; Yampolsky, Claudio

    2014-01-01

    Objetivo: la presentación de un caso de una paciente con un ependimoma sacro con extensa infiltración y destrucción ósea local. Descripción del caso: una mujer de 53 años acudió a la consulta por dolor lumbosacro y alteraciones sensitivas perineales y esfinterianas. La imágenes por Resonancia Magnética (IRM) y la Tomografía Axial Computada (TAC) mostraron una lesión expansiva gigante a nivel S2-S4 con extensa osteólisis e invasión de tejidos adyacentes. Se realizó una exéresis tumoral completa con mejoría del estatus funcional. La anatomía patológica informó ependimoma mixopapilar. Discusión: la extensión de la resección quirúrgica es el mejor predictor de buen pronóstico. El tratamiento radiante se reserva como opción adyuvante para las resecciones incompletas y recidiva tumoral. La quimioterapia sólo debería utilizarse en casos en que la cirugía y la radioterapia estén contraindicadas. Conclusión: Los ependimomas mixopapilares sacros con destrucción ósea y presentación intra y extradural son muy infrecuentes y deben ser tenidos en cuenta entre los diagnósticos diferenciales preoperatorios. Su resección total, siempre que sea posible, es la mejor alternativa terapéutica. PMID:25165615

  2. INFANTILE PARALYSIS

    PubMed Central

    1917-01-01

    At the recent Forty-fourth Annual Meetings of the American Public Health Association, Cincinnati, Ohio, there was held a Round Table Discussion on Infantile Paralysis, in which health authorities throughout the country took part. This discussion was held under the auspices of the Section on Public Health Administration. Dr. George W. Goler, Health Officer of Rochester, N. Y., Chairman of this Section, presided. We take great pleasure in being able to reproduce for readers of the Journal what took place at this most important session. PMID:18009618

  3. Management of infantile spasms

    PubMed Central

    2015-01-01

    West syndrome, or infantile spasms syndrome is a frequently catastrophic infantile epileptic encephalopathy with a variety of etiologies. Despite the heterogeneous nature of causes of infantile spasms, a careful diagnostic evaluation can lead to diagnosis in many patients and may guide treatment choices. Magnetic resonance imaging (MRI) brain remains the highest yield initial study in determining the etiology in infantile spasms. Treatment of infantile spasms has little class I data, but adrenocorticotropic hormone (ACTH), prednisolone and vigabatrin have the best evidence as first-line medications. Other therapies including the ketogenic diet and other anti-epileptics medications may also prove useful in the treatment of infantile spasms. In general, more studies are needed to determine the best treatment regimen for this condition. Prognosis is generally poor, with the majority of patients having some or profound neurocognitive delays. Patients without delays at diagnosis and without an identifiable etiology, if treated appropriately, have the greatest likelihood of a normal outcome. PMID:26835388

  4. Propranolol (Infantile Hemangioma)

    MedlinePlus

    Propranolol oral solution is used to treat proliferating infantile hemangioma (benign [noncancerous] growths or tumors appearing on or under ... Propranolol comes as an oral solution (liquid) to take by mouth. Propranolol oral solution is usually taken twice daily (9 hours apart) during or immediately ...

  5. Intracranial infantile hemangiopericytoma.

    PubMed

    McHugh, Brian J; Baranoski, Jacob F; Malhotra, Ajay; Vortmeyer, Alexander O; Sze, Gordon; Duncan, Charles C

    2014-08-01

    Intracranial infantile hemangiopericytomas (HPCs) are exceedingly rare lesions. Only 11 cases have been previously reported in the literature. As such, little is known about the etiology, long-term prognosis, and optimal treatment paradigm. Clinically, they are consistently less aggressive than those in adults. The authors present the case of a 2-month-old boy with an intracranial HPC, review the available literature, discuss the evolving concepts of what defines an HPC, and offer a potential explanation to how HPC histology might relate to the clinical behavior of these lesions.

  6. Pathogenesis of infantile hemangiomas.

    PubMed

    Uihlein, Lily Changchien; Liang, Marilyn G; Mulliken, John B

    2012-08-01

    1.Review the key features of the life cycle of infantile hemangiomas.2.Highlight cellular and molecular pathways involved in hemangioma-genesis.3.Discuss theories that may account for hemangioma-genesis.In the past, it was believed that a mother's visual impressions or behavior during pregnancy caused the growth of infantile hemangioma in her unborn child. She might have had an excessive craving for strawberries, witnessed the slaughter of an animal, directly contacted human or animal blood, or mocked a child with a similar birthmark.1 This folklore began to slowly fade once hemangiomas were examined through the light microscope. In 1863, Virchow2 suggested that hemangiomas are composed of proliferating new blood vessels resulting from progressive irritation of tissue. In 1933, Laidlow and Murray3 proposed a phylogenetic origin for hemangiomas and hypothesized that hemangiomas are remnants of vascular tufts functioning as accessory lungs for primitive amphibia. Pack and Miller4 (1950) hypothesized that hemangiomas develop from embryonic islands of angioblastic cells that were isolated from the systemic vasculature during fetal development. PMID:22881413

  7. Pathogenesis of infantile haemangioma.

    PubMed

    Greenberger, S; Bischoff, J

    2013-07-01

    Haemangioma is a vascular tumour of infancy that is well known for its rapid growth during the first weeks to months of a child's life, followed by a spontaneous but slow involution. During the proliferative phase, the vessels are disorganized and composed of immature endothelial cells. When the tumour involutes, the vessels mature and enlarge but are reduced in number. Fat, fibroblasts and connective tissue replace the vascular tissue, with few, large, feeding and draining vessels evident. Both angiogenesis and vasculogenesis have been proposed as mechanisms contributing to the neovascularization in haemangioma tumours. In recent years, several of the 'building blocks', the cells comprising the haemangioma, have been isolated. Among them are haemangioma progenitor/stem cells, endothelial cells and pericytes. This review focuses on these cell types, and the molecular pathways within these cells that have been implicated in driving the pathogenesis of infantile haemangioma.

  8. Infantile scurvy: a historical perspective.

    PubMed

    Rajakumar, K

    2001-10-01

    Scurvy, a disease of dietary deficiency of vitamin C, is uncommon today. Among diseases, scurvy has a rich history and an ancient past. The Renaissance (14th to 16th centuries) witnessed several epidemics of scurvy among sea voyagers. In 1747, James Lind, a British Naval surgeon, performed a carefully designed clinical trial and concluded that oranges and lemons had the most antiscorbutic effect. Eventually, with the provision of lemon juice to the sea voyagers, scurvy became rare at sea. Infantile scurvy appeared almost as a new disease toward the end of the 19th century. The increased incidence of infantile scurvy during that period was attributed to the usage of heated milk and proprietary foods. Thomas Barlow described the classic clinical and pathologic features of infantile scurvy in 1883. Between 1907 and 1912, Holst and Frolich induced and cured scurvy in guinea pigs by dietary modification. In 1914, Alfred Hess established that pasteurization reduced the antiscorbutic value of milk and recommended supplementation of fresh fruit and vegetable juices to prevent scurvy. Such pioneering efforts led to the eradication of infantile scurvy in the United States. A brief history of infantile scurvy is provided. PMID:11581484

  9. Infantile amnesia: a neurogenic hypothesis.

    PubMed

    Josselyn, Sheena A; Frankland, Paul W

    2012-08-16

    In the late 19th Century, Sigmund Freud described the phenomenon in which people are unable to recall events from early childhood as infantile amnesia. Although universally observed, infantile amnesia is a paradox; adults have surprisingly few memories of early childhood despite the seemingly exuberant learning capacity of young children. How can these findings be reconciled? The mechanisms underlying this form of amnesia are the subject of much debate. Psychological/cognitive theories assert that the ability to maintain detailed, declarative-like memories in the long term correlates with the development of language, theory of mind, and/or sense of "self." However, the finding that experimental animals also show infantile amnesia suggests that this phenomenon cannot be explained fully in purely human terms. Biological explanations of infantile amnesia suggest that protracted postnatal development of key brain regions important for memory interferes with stable long-term memory storage, yet they do not clearly specify which particular aspects of brain maturation are causally related to infantile amnesia. Here, we propose a hypothesis of infantile amnesia that focuses on one specific aspect of postnatal brain development--the continued addition of new neurons to the hippocampus. Infants (humans, nonhuman primates, and rodents) exhibit high levels of hippocampal neurogenesis and an inability to form lasting memories. Interestingly, the decline of postnatal neurogenesis levels corresponds to the emergence of the ability to form stable long-term memory. We propose that high neurogenesis levels negatively regulate the ability to form enduring memories, most likely by replacing synaptic connections in preexisting hippocampal memory circuits.

  10. Infantile refsum disease: case report.

    PubMed

    Choksi, Vaishali; Hoeffner, Ellen; Karaarslan, Ercan; Yalcinkaya, Cengiz; Cakirer, Sinan

    2003-01-01

    Infantile Refsum disease is a rare inborn error of phytanic acid metabolism. It is inherited in an autosomal recessive manner and frequently causes signs and symptoms in the neonate period. The only source of phytanic acid in humans is exogenous, from diet. We report the MR imaging findings in two cases of infantile Refsum disease and note the MR imaging changes that occurred over time because of further progression of the disease. The initial diagnosis in both patients was made on basis of history, clinical findings, and biochemical studies.

  11. Modeling new therapies for infantile spasms

    PubMed Central

    Chudomelova, Lenka; Scantlebury, Morris H.; Raffo, Emmanuel; Coppola, Antonietta; Betancourth, David; Galanopoulou, Aristea S.

    2010-01-01

    Summary Infantile spasms are the classical seizure type of West syndrome. Infantile spasms often herald a dismal prognosis, due to the high probability to evolve into intractable forms of epilepsies with significant cognitive deficits, especially if not adequately treated. The current therapies, high doses of adrenocorticotropic hormone, steroids or the GABA transaminase inhibitor vigabatrin, are often toxic and may not always be effective. The need to identify new therapies for spasms has led to the generation of a number of rodent models of infantile spasms. These include acute and chronic models of infantile spasms, with cryptogenic or symptomatic origin, many of which are based on specific etiologies. In this review, we will summarize the clinical experience with treating infantile spasms, the main features of the new animal models of infantile spasms and discuss their utility in the preclinical development of new therapies for infantile spasms. PMID:20618396

  12. Neonatal and infantile acne vulgaris: an update.

    PubMed

    Serna-Tamayo, Cristian; Janniger, Camila K; Micali, Giuseppe; Schwartz, Robert A

    2014-07-01

    Acne may present in neonates, infants, and small children. Neonatal and infantile acne vulgaris are not considered to be rare. The presentation of acne in this patient population sometimes represents virilization and may portend later development of severe adolescent acne. Neonatal and infantile acne vulgaris must be distinguished from other cutaneous disorders seen in newborns and infants. Infantile acne tends to be more pleomorphic and inflammatory, thus requiring more vigorous therapy than neonatal acne.

  13. [Pathogenesis of infantile cerebral palsy].

    PubMed

    Semenova, K A

    1980-01-01

    Some causes of the pathological activity of postural reflexes and other motor disturbances underlying the clinical picture of infantile cerebral paralysis are considered. It is shown that disturbed metabolism of corticosteroids observed in that disease, as well as impaired functional activity of T lymphocytes promote the development of both inflammatory and neuroimmune processes in the brain, mainly in large hemispheres--and this may be one of the causes of the pathological postural activity. PMID:6969015

  14. [Infantile autism, psychoanalytic research and scientific status].

    PubMed

    Golse, B

    1993-01-01

    After emphasizing the very modern aspect of psychoanalytic epistemology, the author shows how psychoanalytical research applied to the issue of infantile autism concentrates the maximum of difficulties and is therefore vulnerable to critics from the "hard" sciences. Some tentative answers are proposed in reference to the narrative sciences. The author then suggests various tracks for the psychoanalytical research in the field of infantile autism.

  15. Infantile spasms: A prognostic evaluation

    PubMed Central

    Iype, Mary; Saradakutty, Geetha; Kunju, Puthuvathra Abdul Mohammed; Mohan, Devi; Nair, Muttathu Krishnapanicker Chandrasekharan; George, Babu; Ahamed, Shahanaz M.

    2016-01-01

    Background: Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome. Objective: We aimed to follow up children with infantile spasms to study: a) the etiology, demographics, semiology, electroencephalogram (EEG), and radiological pattern; b) seizure control, psychomotor development, and EEG resolution with treatment; c) the effects of various factors on the control of spasms, resolution of EEG changes, and psychomotor development at 3-year follow-up. Materials and Methods: Fifty newly diagnosed cases with a 1-12 month age of onset and who had hypsarrhythmia in their EEG were recruited and 43 were followed up for 3 years. Results: Of the children followed up, 51% were seizure-free and 37% had a normal EEG at the 3-year follow-up. Autistic features were seen in 74% of the children. Only 22.7% among the seizure-free (11.6% of the total) children had normal vision and hearing, speech with narration, writing skills, gross and fine motor development, and no autism or hyperactivity. On multivariate analysis, two factors could predict bad seizure outcome — the occurrence of other seizures in addition to infantile spasms and no response to 28 days of adrenocorticotropic hormone (ACTH). No predictor could be identified for abnormal psychomotor development. Discussion and Conclusion: In our study, we could demonstrate two factors that predict seizure freedom. The cognitive outcome and seizure control in this group of children are comparable to the existing literature. However, the cognitive outcome revealed by our study and the survey of the literature are discouraging. PMID:27293335

  16. Infantile Colic: Recognition and Treatment.

    PubMed

    Johnson, Jeremy D; Cocker, Katherine; Chang, Elisabeth

    2015-10-01

    Infantile colic is a benign process in which an infant has paroxysms of inconsolable crying for more than three hours per day, more than three days per week, for longer than three weeks. It affects approximately 10% to 40% of infants worldwide and peaks at around six weeks of age, with symptoms resolving by three to six months of age. The incidence is equal between sexes, and there is no correlation with type of feeding (breast vs. bottle), gestational age, or socioeconomic status. The cause of infantile colic is not known; proposed causes include alterations in fecal microflora, intolerance to cow's milk protein or lactose, gastrointestinal immaturity or inflammation, increased serotonin secretion, poor feeding technique, and maternal smoking or nicotine replacement therapy. Colic is a diagnosis of exclusion after a detailed history and physical examination have ruled out concerning causes. Parental support and reassurance are key components of the management of colic. Simethicone and proton pump inhibitors are ineffective for the treatment of colic, and dicyclomine is contraindicated. Treatment options for breastfed infants include the probiotic Lactobacillus reuteri (strain DSM 17938) and reducing maternal dietary allergen intake. Switching to a hydrolyzed formula is an option for formula-fed infants. Evidence does not support chiropractic or osteopathic manipulation, infant massage, swaddling, acupuncture, or herbal supplements. PMID:26447441

  17. Skeletal manifestations of infantile scurvy.

    PubMed

    Brickley, Megan; Ives, Rachel

    2006-02-01

    Recent investigations of human skeletal material from the historic St. Martin's cemetery, England, found a range of abnormal lesions in six infants that are almost certainly related to scurvy. Porous and proliferative bone lesions affecting the cranial bones and scapulae were found, and this paper presents images obtained using both macroscopic and scanning electron microscope examination of the lesions. Previous work on infantile scurvy (Ortner et al., 1997-2001) relied heavily on changes at the sphenoid, which is often missing in archaeological bone, so the identification of changes attributable to scurvy on other cranial bones and the scapulae is encouraging. The ability to recognize changes related to scurvy on a range of bones will ensure an enhanced potential for recognition of this disease in future research involving archaeological bone. Research on historical documents from Birmingham dating to the eighteenth and nineteenth centuries, combined with the probable cases of scurvy identified, supports the view that the paucity of cases of infantile scurvy from the archaeological record reflects a lack of understanding and recognition of bone manifestations, rather than a lack of occurrence in this period. Changes linked to scurvy were only found in infants from the poorer sections of the community from St. Martin's, and this is almost certainly linked to patterns of food consumption and may be related to shortages of potatoes, due to blight, experienced during this period.

  18. Early Infantile Autism and Autistic Psychopathy

    ERIC Educational Resources Information Center

    Van Krevelen, D. Arn

    1971-01-01

    The paper tries to assign to autistic psychopathy a definite place in psychiatric nosology and to delineate sharply the differences between the essential characteristics of it and of early infantile autism. (Author)

  19. Infantile haemangioma: a complicated disease.

    PubMed

    Qiu, Mingke; Qi, Xianqin; Dai, Yuxin; Wang, Shuqing; Quan, Zhiwei; Liu, Yingbin; Ou, Jingmin

    2015-06-01

    Infantile haemangiomas (IH) are common benign vascular tumors of childhood. They are characterised by rapid growth during the first year of life and slow regression that is usually completed by 7-10 years of age. The underlying mechanism of action of IH is aberrant angiogenesis and vasculogenesis, and involves the mammalian target of rapamycin pathway and vascular endothelial growth factor pathway. IH become a challenge if they are part of a syndrome, are located in certain areas of the body, or if complications develop. The beta-adrenergic receptor blocker propranolol is a promising new candidate for first-line systemic therapy. This review focuses on the clinical characteristics, pathogenesis and management of IH.

  20. Infantile hemangiomas, complications and treatments.

    PubMed

    Cheng, Carol Erin; Friedlander, Sheila Fallon

    2016-03-01

    Infantile hemangiomas (IHs) are the most common vascular tumors of infancy. While the majority regress without the need for intervention, approximately 10%, often site dependent, can cause serious complications and require treatment. IH complications can be categorized as life threatening, obstructive, ulcerative or disfiguring. Life threatening complications include airway and hepatic IHs. Functional complications obstructing vital structures or impairing function include periocular, nasal, labial, parotid, auricular, and breast IHs. Local complications arise from ulceration or those in cosmetically sensitive areas. Therapeutic options for complicated IHs include pharmacologic (topical or systemic), surgical, or laser interventions. Topical agents are best employed for small, superficial, and localized IHs; while systemic therapy is reserved for larger IHs and those with more aggressive growth characteristics with propranolol as first-line therapy. PMID:27607318

  1. Neurological complications of infantile osteopetrosis.

    PubMed

    Lehman, R A; Reeves, J D; Wilson, W B; Wesenberg, R L

    1977-11-01

    Seven cases of infantile osteopetrosis are presented. Five of these were available for detailed clinical examination and 2 for retrospective review, including autopsy slides. Neurological deficits in these patients are reviewed. Involvement of the central nervous system parenchyma was suggested by observations of delayed development, ocular abnormalities, and reflex changes as well as radiographic and autopsy findings. Cerebral atrophy was present in several of our patients as well as some reported in the literature and may account for the ventricular enlargement found in many of these patients. Though hydrocephalus may be present, it is unclear that this is frequent or that it can occur without antecedent intracranial hemorrhage. The large head size is not accounted for by calvarial thickening or by hydrocephalus. Despite our patients' small stature, pituitary function appeared to be normal. Surgical decompression may stabilize cranial nerve function, particularly when the optic nerves are involved. PMID:617576

  2. Desmoplastic infantile and non-infantile ganglioglioma. Review of the literature.

    PubMed

    Gelabert-Gonzalez, Miguel; Serramito-García, Ramón; Arcos-Algaba, Andrea

    2010-04-01

    Desmoplastic gangliogliomas (DIG) are rare primary neoplasms that comprise 0.5-1.0% of all intracranial tumors. Clinically, there are two forms of DIG, the infantile and the non-infantile. These tumors invariably arise in the supratentorial region and commonly involve more than one lobe, preferentially the temporal and frontal. On neuroimaging are seen as large hypodense cystic masses with a solid isodense or slightly hyperdense superficial portion. The histologic diagnosis is characterized by the presence of three different cell lines: astrocytic, neuronal, and primitive neuroectodermal marker sites, which were demonstrable. The treatment of choice is radical surgical excision, and if this is done, achieved complete healing of the patient does not require additional treatment. A literature review of DIG was compiled through Medline/Ovid using the keywords "desmoplastic infantile ganglioglioma", "desmoplastic non-infantile ganglioglioma" covering the years 1984-2009. We present a review of a total of 113 cases of infantile (94) and non-infantile gangliogliomas (19) published to date, examining the clinical, radiologic, surgical, and pathological aspects, as well as the outcome. Desmoplastic gangliogliomas represent a rare tumor group with two well-defined age groups, the children and non-children. Desmoplastic infantile gangliogliomas are the most common and occur in children below 5 years of age, and the large majority of them present within the first year of life. Surgery is the treatment of choice and no complementary treatment is needed in cases of complete tumor resection. PMID:21246390

  3. Misdiagnosed infantile rhabdomyofibrosarcoma: A case report

    PubMed Central

    Pan, Tao; Chen, Ken; Jiang, Run-Song; Zhao, Zheng-Yan

    2016-01-01

    Infantile rhabdomyofibrosarcoma is a rare form of soft-tissue tumor often associated with difficulties in diagnosis. The disease is positioned intermediately between rhabdomyosarcoma and infantile fibrosarcoma in terms of clinical presentation, immunohistochemistry, behavior, morphology and ultrastructural features. Reports of rhabdomyofibrosarcoma cases are limited in the literature. The present case describes a 26-month-old female who presented with a slowly progressive, soft-tissue mass in the right chest wall. The mass was successfully treated with surgery. Using histopathology, the tumor was diagnosed and classified as infantile rhabdomyofibrosarcoma. The patient has been followed-up for 2 years and is currently in good condition. The present case demonstrates that early, radical, local surgery and multidisciplinary cooperation were successful for the treatment of rhabdomyofibrosarcoma, and close follow-up highly recommended.

  4. Helicobacter pylori and Egyptian infantile colic.

    PubMed

    Ali, Adel S A; Borei, Maher B M

    2013-08-01

    Excessive infant crying is a common and often stress-inducing condition for parents that can ultimately result in infant abuse. Although the infantile colic is reported commonly and causes appreciable distress for both parents and pediatricians, its pathogenesis remains unclear, despite 40 years of research. This work studied the role of H. pylori in infantile colic. This study was conducted in a primary health care office in Sharkia Governorate. The study included 50 infants with infantile colic according to Wessel's criteria, along with age and sex matched 50 healthy controls. All-infants without apparent cause for their colic underwent full history taking, clinical examination and H. pylori antigen in their stools. This study supports the new evidence for the role of H. pylori in the pathogenesis of infantile colic. H. pylori stool antigen was present in 31 (62%) of cases in contrast to 10 (20%) of controls (P<0.0001). Normal vaginal delivery, male, vomiting and breast feeding may be risk factors for H. pylori infection in this age period.

  5. Infantile Amnesia: Forgotten but Not Gone

    ERIC Educational Resources Information Center

    Li, Stella; Callaghan, Bridget L.; Richardson, Rick

    2014-01-01

    Unlike adult memories that can be remembered for many years, memories that are formed early in life are more fragile and susceptible to being forgotten (a phenomenon known as "infantile" or "childhood" amnesia). Nonetheless, decades of research in both humans and nonhuman animals demonstrate the importance of early life…

  6. Association between infantile spasms and nonaccidental head injury.

    PubMed

    Birca, Ala; D'Anjou, Guy; Carmant, Lionel

    2014-05-01

    Infantile spasms constitute a severe epileptic encephalopathy of infancy with poor long-term developmental outcome. Many diverse etiologies have been associated with infantile spasms, but the pathophysiological process is still not fully understood. We describe 2 cases of previously healthy 1- and 3-month-old infants who suffered a nonaccidental head injury with extensive cerebral lesions. Both presented with acute focal seizures rapidly controlled with phenobarbital. Nevertheless, they developed infantile spasms after a latency period of 3-4 months. Spasms were rapidly controlled with vigabatrin. Both children manifested with developmental delay, either exacerbated (case 1) or elicited (case 2) by infantile spasms. Our report highlights nonaccidental head injury as a risk factor for developing infantile spasms following a seizure-free latency period. A better understanding of the pathophysiology linking accidental brain trauma with infantile spasms could lead to more effective neuroprotective strategies. In the meantime, increased awareness and follow-up are warranted. PMID:23580697

  7. Low-dose propranolol for infantile haemangioma.

    PubMed

    Tan, Swee T; Itinteang, Tinte; Leadbitter, Philip

    2011-03-01

    In 2008, propranolol was serendipitously observed to cause accelerated involution of infantile haemangioma. However, the mechanism by which it causes this dramatic effect is unknown, the dosage empirical and the optimal duration of treatment unexplored. This study determines the minimal dosage and duration of propranolol treatment to achieve accelerated involution of problematic infantile haemangioma. Consecutive patients with problematic proliferating infantile haemangioma treated with propranolol were culled from our prospective vascular anomalies database. The patients were initially managed as inpatients and commenced on propranolol at 0.25 mg kg(-1) twice daily, and closely monitored. The dosage was increased to 0.5 mg kg(-1) twice daily after 24 h, if there was no cardiovascular or metabolic side effect. The dosage was increased further by 0.5 mg kg(-1) day(-1) until a visible effect was noticed or up to a maximum of 2 mg kg(-1) day(-1), and was maintained until the lesion had fully involuted or the child was 12-months old. A total of 15 patients aged 3 weeks to 8.5 months (mean, 11 weeks) underwent propranolol treatment for problematic proliferating infantile haemangioma, which threatened life (n=1) or vision (n=2) or nasal obstruction (n=3) and/or caused ulceration (n=6) and/or bleeding (n=2) and/or significant tissue distortion (n=12). The minimal dosage required to achieve accelerated involution was 1.5-2.0 mg kg(-1) day(-1). Rebound growth occurred in the first patient when the dose was withdrawn at 7.5 months of age requiring reinstitution of treatment. No rebound growth was observed in the remaining patients. No other complications were observed. Propranolol at 1.5-2.0 mg kg(-1) day(-1), administered in divided doses with gradual increase in the dose, is effective and safe for treating problematic proliferating infantile haemangioma in our cohort of patients. Treatment should be maintained until the lesion is completely involuted or the child is 12

  8. Unusual presentation of GLUT-1 positive infantile haemangioma.

    PubMed

    Koh, Clare; Sugo, Ella; Wargon, Orli

    2009-05-01

    Infantile haemangiomas are usually not present at birth. This is a case of a female infant with an atypical congenital vascular tumour present at birth which ulcerated in the first few days of life, involuted over several months and showed histopathological features in keeping with either an involuting GLUT-1 positive infantile haemangioma or a reticular haemangioma of infancy. The initial clinical presentation was atypical for an infantile haemangiomas and for a congenital haemangioma, however the histopathology and immunohistochemistry assisted with confirmation of the diagnosis. Vacuum-assisted closure (VAC) therapy aided in the complete healing of the ulcerated infantile haemangioma which was not achievable with conventional dressings.

  9. Infantile systemic hyalinosis in identical twins.

    PubMed

    Koonuru, Mahesh Kumar; Venugopal, Satya Prasad

    2015-11-01

    Infantile systemic hyalinosis (ISH) is a rare disorder belonging to the heterogeneous group of genetic fibromatoses. It is a rare, progressive, fatal autosomal recessive condition characterized by widespread deposition of hyaline material in many tissues caused by mutations in the anthrax toxin receptor 2 gene - ANTXR2. It presents hyperpigmented skin over bony prominences. Characteristic purplish patches develop over the medial and lateral malleoli of the ankles, the metacarpophalangeal joints, spine and elbows, with progressive joint contractures, osteopenia, skin abnormalities and chronic severe pain. The present case reports the occurrence of infantile systemic hyalinosis in twin brothers five months of age who had come for early intervention for joint contractures representing characteristic brownish patches over bony prominences. ISH cases reported until this date have been less than 20 and the present case is unique in nature since this is the first time ISH is reported in twins globally and the symptoms have been identified at an early age. PMID:26668783

  10. [Giant infantile hepatic hemangioma: which therapeutic options?].

    PubMed

    Gonçalves, Cristina; Lobo, Luisa; Anjos, Rui; Salgueiro, Carlos; Lopes, Ana Isabel

    2013-01-01

    Infantile hepatic hemangioma is the third most frequent liver tumor in children and the most common below 6 months of age. Therapeutic options depend on clinical manifestations and should be tailored on an individual patient basis. We present the case of a 4 year old boy with neonatal diagnosis of large vascularized liver tumor with imagiological criteria of infantile hepatic hemangioma. We highlight the occurrence of heart failure and Kasabach-Merrit syndrome (thrombocytopenia, anemia) that have spontaneously regressed. During follow up, sequential imaging (ultrasound with Doppler, magnetic resonance imaging, dynamic contrast enhancement computed tomography) confirmed the hypothesis of IHH, allowing vascular mapping of the lesion. From the first year on, we observed a favorable course with progressive tumor regression. In the present case, a conservative approach has been maintained, but the best therapeutic option remains unclear. We highlight the specific features of this case, discussing the most cost-effective approach.

  11. [Early infantile autism and its biochemistry].

    PubMed

    Ferrari, P; Bursztejn, C

    1983-09-22

    In the first part of this paper the different orientations of biochemical research in early infantile autism are recalled. The most significant results of these studies concerning the dopaminergic, noradrenergic and indolaminergic (serotonin, efflux, uptake) systems as well as the various enzymatic complexes are also reviewed. In the second part, the methodologic problems which arise in biochemical research in the field of autism are addressed.

  12. Infantile refsum disease in four Amish sibs.

    PubMed

    Bader, P I; Dougherty, S; Cangany, N; Raymond, G; Jackson, C E

    2000-01-17

    Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage; biochemical testing supported the diagnosis of IRD. Of particular interest in this sibship are characteristic poorly formed yellow-orange teeth in at least three of the four affected sibs and behavior problems in the affected females. PMID:10607947

  13. Infantile refsum disease in four Amish sibs.

    PubMed

    Bader, P I; Dougherty, S; Cangany, N; Raymond, G; Jackson, C E

    2000-01-17

    Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage; biochemical testing supported the diagnosis of IRD. Of particular interest in this sibship are characteristic poorly formed yellow-orange teeth in at least three of the four affected sibs and behavior problems in the affected females.

  14. Infantile Refsum disease: serial evaluation with MRI.

    PubMed

    Cakirer, Sinan; Savas, Mahmut R

    2005-02-01

    Refsum disease is a rare metabolic disorder, which is characterized by the accumulation of phytanic acid in the blood and tissues, including the brain. A variant of this condition that occurs in young children is called infantile Refsum disease. The MRI findings of symmetrical signal change involving the corticospinal tracts, cerebellar dentate nuclei, and corpus callosum are characteristic. We report the serial MRI findings of a child with this rare metabolic disorder.

  15. Infantile tremor syndrome -- down but not out.

    PubMed

    Goraya, Jatinder S; Kaur, Sukhjot

    2015-03-01

    Retrospective chart review of 21 infants with infantile tremor syndrome for vitamin B12 deficiency showed low serum vitamin B12 levels in 8/16 (50%). Of the eight infants with normal levels, six had received vitamin B12 before referral. Macrocytosis and low maternal serum B12 was found in 12 and seven cases each. Treatment with vitamin B12 alone produced rapid recovery.

  16. Infantile and acquired nystagmus in childhood.

    PubMed

    Ehrt, Oliver

    2012-11-01

    Nystagmus is an involuntary, periodic eye movement caused by a slow drift of fixation which is followed by a fast refixation saccade (jerk nystagmus) or a slow movement back to fixation (pendular nystagmus). In childhood most cases are benign forms of nystagmus: idiopathic infantile, ocular or latent nystagmus. They arise at the age of 3 months, without oscillopsia and show the absence of the physiologic opto-kinetic nystagmus. A full ophthalmologic evaluation is all that is needed in most cases: albinism, macular or optic nerve hypoplasia and congenital retinal dystrophies are the most common forms of ocular nystagmus. Idiopathic infantile nystagmus can be hereditary, the most common and best analyzed form being a mutation of the FRMD7 gene on chromosome Xq26.2. The mutation shows a mild genotype-phenotype correlation. In all female carriers the opto-kinetic nystagmus is absent and half had mild nystagmus. Latent nystagmus is part of the infantile esotropia syndrome and shows the unique feature of change of direction when the fixing eye changes: it is always beating to the side of the fixing eye. There is no cure for infantile nystagmus but therapeutic options include magnifying visual aids or eye muscle surgery at the age of 6-8 y in patients with head turn. Less than 20% of childhood nystagmus are acquired and need further neurological and imaging work-up. Alarming signs and symptoms are: onset after the age of 4 months, oscillopsia, dissociated (asymmetric) nystagmus, preserved opto-kinetic nystagmus, afferent pupillary defect, papilloedema and neurological symptoms like vertigo and nausea. The most common cause is due to pathology of the anterior optic pathway (e.g. optic nerve gliomas). It shows the same clinical feature of dissociated nystagmus as spasmus nutans but has a higher frequency as in INO. Other forms of acquired nystagmus are due to brainstem, cerebellar or metabolic diseases. PMID:22459007

  17. Infantile torticollis: a review of 624 cases.

    PubMed

    Cheng, J C; Au, A W

    1994-01-01

    We reviewed 624 cases of infantile torticollis in one centre over a period of 7 years. The incidence of torticollis was found to be 1.3% in Chinese children. Boy-to-girl ratio was 3:2. Obstetric histories of the mothers showed a total of 62.2% with difficult labour, breech deliveries, or caesarean section, and 6.04% had associated congenital anomalies. Of all the cases, 27.88% were found to be postural, 35.4% had torticollis that presented with sternomastoid tumor, and 36.7% presented with muscular torticollis alone. When limitation of neck range was considered, 36.7% had a passive rotation deficit > 15 degrees. In patients presenting in the early stages, 97% of all infantile torticollis cases resolved with conservative treatment, active stimulation, and a passive stretching program. For those responding to treatment, the mean treatment period was < 6 months for varying degrees of neck rotational deficit. Patients with cord-like muscular torticollis and a rotational > 30 degrees were more likely to need surgery. Presence of sternomastoid tumor alone was not found to increase the likelihood of surgery. Musculoskeletal sequelae after torticollis had resolved included intermittent head tilt and persistence of mild craniofacial asymmetry. We recommend continuous follow-up in cases of infantile torticollis, particularly in patients with progression of sternomastoid tumor to muscular torticollis.

  18. [Infantile hemangiomas: the revolution of beta-blockers].

    PubMed

    Leaute-Labreze, Christine

    2014-12-01

    Infantile hemangioma is the consequence of both postnatal vasculogenesis and angiogenesis. Hypoxia appears to play an important role as a contributory factor. Infantile hemangiomas have variable clinical features: superficial, deep or mixed. They can be localized or segmental involving a large skin area. Localized infantile hemangiomas are usually benign, unless they are located near a noble structure (airway orbit...), while segmental infantile hemangioma may be associated with complex underlying birth defects (PHACES and SACRAL syndromes). Clinical follow-up of infants with infantile hemangioma must be particularly careful in the first weeks of life since 80% of all infantile hemangiomas have reached their final size at age 5 months. A majority of infantile hemangiomas are mild and do not required any treatment. Main indications for treatment are: vital risk (heart failure, respiratory distress), functional risk (amblyopia, swallowing disorders...), painful ulceration and disfigurement (face involvement of nose, lips...). Propranolol, has been quickly adopted as the first line medical treatment for complicated infantile hemangioma; and it is the only treatment to have a marketing authorization in this indication. It is recommended to begin the treatment as early as possible before three months of age to minimize the risk of complications and sequelae.

  19. Physiological Regulation and Infantile Anorexia: A Pilot Study

    ERIC Educational Resources Information Center

    Chatoor, Irene; Ganiban, Jody; Surles, Jaclyn; Doussard-Roosevelt, Jane

    2004-01-01

    Objective: To examine whether infantile anorexia is associated with physiological dysregulation. Method: This study included eight toddlers with infantile anorexia and eight healthy eaters matched for age, race, socioeconomic status, and gender. Physiological measures of heart period and respiratory sinus arrhythmia were assessed across three…

  20. [Infantile hemangiomas: the revolution of beta-blockers].

    PubMed

    Leaute-Labreze, Christine

    2014-12-01

    Infantile hemangioma is the consequence of both postnatal vasculogenesis and angiogenesis. Hypoxia appears to play an important role as a contributory factor. Infantile hemangiomas have variable clinical features: superficial, deep or mixed. They can be localized or segmental involving a large skin area. Localized infantile hemangiomas are usually benign, unless they are located near a noble structure (airway orbit...), while segmental infantile hemangioma may be associated with complex underlying birth defects (PHACES and SACRAL syndromes). Clinical follow-up of infants with infantile hemangioma must be particularly careful in the first weeks of life since 80% of all infantile hemangiomas have reached their final size at age 5 months. A majority of infantile hemangiomas are mild and do not required any treatment. Main indications for treatment are: vital risk (heart failure, respiratory distress), functional risk (amblyopia, swallowing disorders...), painful ulceration and disfigurement (face involvement of nose, lips...). Propranolol, has been quickly adopted as the first line medical treatment for complicated infantile hemangioma; and it is the only treatment to have a marketing authorization in this indication. It is recommended to begin the treatment as early as possible before three months of age to minimize the risk of complications and sequelae. PMID:25665327

  1. Extending Childhood into the Teen Years: "Infantilization" and Its Consequences

    ERIC Educational Resources Information Center

    Skager, Rodney

    2009-01-01

    Young people sandwiched between childhood and adulthood often rebel when adults treat them like children rather than with the respect that acknowledges their intelligence and potential. Research and theory supporting the view of "infantilizing" adolescents has proliferated. The extent to which modern cultures infantilize youth is evident in…

  2. CSF B-Endorphin Levels in Patients with Infantile Autism.

    ERIC Educational Resources Information Center

    Nagamitsu, Shinichiro; And Others

    1997-01-01

    A Japanese study measured CSF (cerebrospinal fluid) levels of beta-endorphin in 19 children (ages 4-6) with infantile autism and in 3 children (ages 10-14) with Rett syndrome. In infantile autism, levels did not differ significantly from control participants (n=23). However, levels were significantly higher in those with Rett syndrome. (Author/CR)

  3. Probiotics for infantile colic: a systematic review

    PubMed Central

    2013-01-01

    Background Infantile colic is a common paediatric condition which causes significant parental distress. Increased intestinal coliform colonization in addition to alteration in Lactobacillus abundance and distribution may play an important role in its pathogenesis. The objectives of this systematic review are to evaluate the efficacy of probiotic supplementation in the reduction of crying time and successful treatment of infantile colic. Methods Literature searches were conducted of MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials. Only randomized controlled trials enrolling term, healthy infants with colic were included. A meta-analysis of included trials was performed utilizing the Cochrane Collaboration methodology. Results Three trials that enrolled 220 breastfed infants met inclusion criteria, of which 209 infants were available for analysis. Two of the studies were assessed as good quality. Lactobacillus reuteri (strains-American Type Culture Collection Strain 55730 and DSM 17 938) was the only species utilized in the therapeutic intervention. Two of the trials were industry funded. Probiotic supplementation compared to simethicone or placebo significantly and progressively shortened crying times to 7 days reaching a plateau at three weeks post initiation of therapy [mean difference −56.03 minutes; 95% CI (−59.92, -52.15)]. Similarly, probiotics compared to placebo significantly increased the treatment success of infantile colic with a relative risk (RR) of 0.06; 95% CI (0.01, 0.25) and a number needed to treat of 2. Conclusions Although L. reuteri may be effective as a treatment strategy for crying in exclusively breastfed infants with colic, the evidence supporting probiotic use for the treatment of infant colic or crying in formula-fed infants remains unresolved. Results from larger rigorously designed studies will help draw more definitive conclusions. PMID:24238101

  4. Looking for new treatments of Infantile Colic

    PubMed Central

    2014-01-01

    Infantile colic is a common disturbance occurring in the first three months of life. It is a benign condition and one of the main causes of pediatric consultation in the early part of life because of its great impact on family life. Some pediatricians are prone to undervalue this issue mainly because of the lack of evidence based medicine guidelines. Up to now, there is no consensus concerning management and treatment. Literature reports growing evidence about the effectiveness of dietary, pharmacological, complementary and behavioral therapies as options for the management of infantile colic. Dietary approach, usually based on the avoidance of cow’s milk proteins in breast-feeding mothers and bottle-fed infants, more recently has seen the rise of new special formulas, such as partially hydrolyzed proteins and low lactose added with prebiotics or probiotics: their efficacy needs to be further documented. Investigated pharmacological agents are Simethicone and Cimetropium Bromide: the first is able to reduce bloating while the second could reduce fussing crying, but it has been tested only for severe infantile colic. No other pain relieving agents have been proposed until now, but some clinical trials are ongoing for new drugs. There is limited evidence supporting the use of complementary and alternative treatments (herbal supplements, manipulative approach and acupuncture) or behavioral interventions. Recent studies have focused the role of microbiota in the pathogenesis of this disturb and so new treatments, such as probiotics, have been proposed, but only few strains have been tested. Further investigations are needed in order to provide evidence-based guidelines. PMID:24898541

  5. Audiological findings in Infantile Refsum disease.

    PubMed

    Vandana, V P; Bindu, Parayil Sankaran; Nagappa, Madhu; Sinha, Sanjib; Taly, Arun B

    2015-08-01

    Audiological manifestations in a four-year-old child with Infantile Refsum disease are reported. He was born to non-consanguineous parents and had normal birth history and mildly delayed milestones prior to presentation. Clinical features were characterized by neuroregression, retinitis pigmentosa, hearing loss, peripheral neuropathy and white matter signal changes on magnetic resonance imaging. Biochemical evaluation showed elevated serum levels of long chain fatty acid and phytanic acid confirming the diagnosis. The audiological profile was characterized by absent auditory brainstem responses with robust otocoustic emissions, which indicated auditory neuropathy as the possible cause of hearing loss.

  6. Infantile esotropia: risk factors associated with reoperation

    PubMed Central

    Magli, Adriano; Rombetto, Luca; Matarazzo, Francesco; Carelli, Roberta

    2016-01-01

    The aim of this study was to identify clinical and demographic factors associated with misalignment after first surgery performed on children affected by infantile esotropia to evaluate the reoperation rate. A retrospective study was carried out, analyzing data from 525 children who underwent bilateral medial recti recession, bilateral lateral recti resection, and inferior oblique recession and anteroposition by the same surgeon (AM). Postoperative evaluation included assessment of motor alignment at approximately 3 months, 6 months, 1 year, and 5 years. Statistical analysis was performed with a logistical regression model in which the dependent variable was the presence/absence of reoperation. We found that late surgery (after 3 years of age) and a family history of strabismus are associated with a higher risk of reoperation, while some clinical factors, including some classically associated with worst motor outcome as preoperative angle, dissociated vertical deviation, and amblyopia, did not influence the incidence of reoperation in infantile esotropia. Male patients and patients with hyperopia in preoperative examinations have a significantly decreased reoperation rate.

  7. Evidence-Based Medicine in the Treatment of Infantile Hemangiomas.

    PubMed

    Keller, Robert G; Patel, Krishna G

    2015-08-01

    Over the past decade, the treatment of infantile hemangiomas has undergone dramatic breakthroughs. This review critically evaluates the latest literature that supports the myriad treatment options for infantile hemangiomas. It chronicles the fading role of steroid therapy and evolution of propranolol use as the major treatment modality. Although propranolol is helping this disease become more of a medical disease and less of a surgical dilemma, the report also reveals a continued search to find nonsystemic treatment options. In summary, this is an evidence-based medicine review for the treatment of infantile hemangiomas.

  8. Genetics Home Reference: X-linked infantile nystagmus

    MedlinePlus

    ... infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary ... the first six months of life. The abnormal eye movements may worsen when an affected person is feeling ...

  9. Alexander disease with mild dorsal brainstem atrophy and infantile spasms.

    PubMed

    Torisu, Hiroyuki; Yoshikawa, Yoko; Yamaguchi-Takada, Yui; Yano, Tamami; Sanefuji, Masafumi; Ishizaki, Yoshito; Sawaishi, Yukio; Hara, Toshiro

    2013-05-01

    We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MRI) findings fulfilled all MRI-based criteria for the diagnosis of Alexander disease and revealed mild atrophy of the dorsal pons and medulla oblongata with abnormal intensities. DNA analysis disclosed a novel heterozygous missense mutation (c.1154 C>T, p.S385F) in the glial fibrillary acidic protein gene. At 8 months of age, tonic spasms occurred, and electroencephalography (EEG) revealed hypsarrhythmia. Lamotrigine effectively controlled the infantile spasms and improved the abnormal EEG findings. Although most patients with infantile Alexander disease have epilepsy, infantile spasms are rare. This comorbid condition may be associated with the distribution of the brain lesions and the age at onset of Alexander disease.

  10. [Propranolol therapy for periocular and orbital infantile haemangiomas].

    PubMed

    Sterker, I; Tegetmeyer, H; Sorge, I; Weißer, M; Böhm, R

    2014-10-01

    In spite of the self-limiting natural course of infantile haemangiomas of the eyelids and orbit, the effects of amblyopia, compression of the optic nerve, and impairment of the aesthetic appearance may develop. Since the serendipitous discovery of the effects of propranolol, a non-selective beta-blocker, on infantile haemangioma in 2008, it has largely replaced the former standard treatments with corticosteroids, laser or surgical procedures. This review discusses the pathogenesis, classification, indication for treatment, and treatment options for infantile haemangiomas. In addition, the results of patients with infantile haemangiomas of the eyelids and orbit treated with systemic propranolol are shown. With additional confirmation of data, including a positive effect-risk-analysis, propranolol will potentially replace high-dose corticosteroids and surgery in the treatment of infantile haemangiomas in the eyelids and orbit. Further clinical studies are necessary to optimise the dosage, treatment period, and application modalities (oral or topical). In the future, propranolol accompanied with paediatric-cardiological monitoring should emerge as the first-line therapy for problematic infantile haemangiomas.

  11. Infantile colic: is a pain syndrome.

    PubMed

    Gudmundsson, Gardar

    2010-12-01

    The hypothesis states that infantile colic is a pain syndrome and the excessive crying leads to aerophagia and abdominal discomfort. The pain comes from sucking the bottle or the nipple. Feeding for the infant is a heavy workload for the masticatory muscles. The tiny digastricus muscle moves the hyoid bone, takes part in opening the mouth and retrusion of the mandible and assists in mowing the tongue upward, forward and backwards. In the adult population pain from this muscle is well documented. The hypothesis explains the crying as being due to muscular pain at first, later on pain from the origins and insertions of the muscle. Then with increased muscular strength and development the pain fades away. PMID:20729004

  12. Infantile Periocular Haemangioma: Optimising the Therapeutic Response.

    PubMed

    Taylor, Robert H

    2016-06-01

    Oral propranolol is now established as the first-line treatment for infantile haemangiomas, and used in up to 20 % of all cases. Propranolol use in infants is most commonly instigated in a controlled environment to monitor for potential serious adverse events such as hypoglycaemia and hypotension. Two test doses are recommended, the first one of 300 μg/kg followed by 2-hourly monitoring. On the subsequent day, a further dose of 650 μg/kg is administered with the same monitoring. A dose of 2 mg/kg divided into three is started from the next day. Parents/carers need to be warned of common adverse effects, of which disturbed sleep is the commonest. Treatment is recommended for up to a year to avoid rebound growth and the need to restart the treatment.

  13. Neonatal Abdominal Hemangiomatosis: Propranolol beyond Infantile Hemangioma

    PubMed Central

    Nip, Siu Ying Angel; Hon, Kam Lun; Leung, Wing Kwan Alex; Leung, Alexander K. C.; Choi, Paul C. L.

    2016-01-01

    Hemangioma is the most common vascular tumor of infancy; presentation is often as cutaneous infantile hemangioma (IH). Cutaneous hemangioma is a clinical diagnosis. Most IHs follow a benign course, with complete involution without treatment in the majority of cases. Visceral hemangioma often involves the liver and manifests as a life-threatening disorder. Hepatic hemangiomas may be associated with high output cardiac failure, coagulopathy, and hepatomegaly which generally develop between 1 and 16 weeks of age. Mortality has been reportedly high without treatment. We report a rare case of a male infant with neonatal hemangiomatosis with diffuse peritoneal involvement, which mimicked a malignant-looking tumor on imaging, and discuss therapeutic options and efficacy. Propranolol is efficacious for IH but generally not useful for other forms of vascular hemangiomas, tumors, and malformations. In our case of neonatal peritoneal hemangiomatosis, propranolol appears to have halted the growth and possibly expedite the involution of the hemangiomatosis without other treatments. PMID:27110421

  14. [An epileptic syndrome in infantile cerebral palsy].

    PubMed

    Sumerkina, M L

    1997-01-01

    The results of examination of 102 patients with infantile cerebral paralysis (ICP) with epileptic syndrome (ES) at the age from 3 months to 14 years are presented. Epileptic fits predominated in patients with hemiparetic form of ICP (40.8%) and spastic diplegia (32.4%). ES manifestations were observed in ICP during the first 3 years of life (more than 80% of cases). The peculiarities of ES clinical course were revealed. There were determined the main types of seizures in patients with ICP which depended on age of their manifestation, as well as their further transformation and prognosis. Computer tomographic and EEG-correlations were established in different forms of ICP. They permitted to revealed pathogenetic mechanisms of ES development in patients with ICP and to determine therapeutic policy and prognosis of the disease. PMID:9163254

  15. Infantile Digital Fibroma: A Rare Fibromatosis.

    PubMed

    Marks, Etan; Ewart, Michelle

    2016-10-01

    Infantile digital fibroma is a rare benign lesion that usually occurs during the first 2 years of life. It can be multiple, but it is usually a single lesion. If it grows large enough it can cause joint deformities or interfere with everyday activities. Microscopically, the neoplastic cells usually have inclusion bodies that are best highlighted with a Masson trichrome stain but can often be seen on hematoxylin-eosin staining. Treatment for this entity is usually watchful waiting because of its ability to spontaneously regress, but excision is recommended if the lesion is symptomatic. More recently, fluorouracil or injectable steroids have shown great promise in inducing regression without the complications that accompany surgery.

  16. Abnormal Head Position in Infantile Nystagmus Syndrome

    PubMed Central

    Noval, Susana; González-Manrique, Mar; Rodríguez-Del Valle, José María; Rodríguez-Sánchez, José María

    2011-01-01

    Infantile nystagmus is an involuntary, bilateral, conjugate, and rhythmic oscillation of the eyes which is present at birth or develops within the first 6 months of life. It may be pendular or jerk-like and, its intensity usually increases in lateral gaze, decreasing with convergence. Up to 64% of all patients with nystagmus also present strabismus, and even more patients have an abnormal head position. The abnormal head positions are more often horizontal, but they may also be vertical or take the form of a tilt, even though the nystagmus itself is horizontal. The aim of this article is to review available information about the origin and treatment of the abnormal head position associated to nystagmus, and to describe our treatment strategies. PMID:24533187

  17. Infantile Digital Fibroma: A Rare Fibromatosis.

    PubMed

    Marks, Etan; Ewart, Michelle

    2016-10-01

    Infantile digital fibroma is a rare benign lesion that usually occurs during the first 2 years of life. It can be multiple, but it is usually a single lesion. If it grows large enough it can cause joint deformities or interfere with everyday activities. Microscopically, the neoplastic cells usually have inclusion bodies that are best highlighted with a Masson trichrome stain but can often be seen on hematoxylin-eosin staining. Treatment for this entity is usually watchful waiting because of its ability to spontaneously regress, but excision is recommended if the lesion is symptomatic. More recently, fluorouracil or injectable steroids have shown great promise in inducing regression without the complications that accompany surgery. PMID:27684985

  18. [Infantile meningitis caused by respiratory syncytial virus].

    PubMed

    Shirota, Go; Morozumi, Miyuki; Ubukata, Kimiko; Shiro, Hiroyuki

    2011-11-01

    Respiratory syncytial (RS) virus commonly causes infantile respiratory tract infection causing significant morbidity and mortality, but rarely meningitis. We report a case of meningitis caused by RS virus subgroup B in a 56-day-old boy admitted for high fever who underwent blood examination and lumbar puncture. Empirical chemotherapy was started with intravenous ampicillin, gentamicin, and cefotaxime based on laboratory data on CSF cells (84/microL) and serum CRP (13.8mg/dL) data. RS virus subgroup B was only detected using real-time PCR comprehensive reverse transcription from the first CSF, but no bacterial gene was detected. No bacteria grew from his CSF, urine, or blood. Fever and serum CRP dropped in a few days. He had neither seizures nor disturbance of consciousness and was discharged on day 11 after admission. No evidence of encephalopathy was detected in brain MRI or electroencephalography. RS virus rarely causes meningitis, but a percentage of RS-virus-infected infants exhibit symptoms such as seizure and disturbance of consciousness. We should recognize that the RS virus may cause neurological complications associated with high morbidity and mortality.

  19. [Accompanying symptoms in infantile spastic hemiplegia].

    PubMed

    Feldkamp, M; Schuknecht, C; Eisenkolb, T

    1985-01-01

    Various concomitant disorders in 535 children with infantile hemiplegia were evaluated; 159 of the cases were particularly well documented. The right/left distribution of the hemiplegia was 56 to 44, the ratio of boys to girls 59 to 41. Severe impairments of hand function (lack of function, first grip) were found more frequently in right hemiplegics than left; the ratio of severe to slight disorders was approx. 3 to 1 in right hemiplegics and 3 to 2 in left hemiplegics. Impairment of hand function was closely related to the quality of sensitivity, the tests of this being based on two-point discrimination and stereognosis. Sixty-two percent of the children were of normal intelligence; of the remainder, approximately equal-sized groups suffered from impairment of the learning faculty or were mentally retarded. There was a positive correlation between reduced intelligence and the severity of impairment of hand function. Impaired speech development was found in 7 percent of the children, right and left hemiplegics being equally affected. Thus, there was no evidence that the brain lesion had any special influence on development of speech. Observations of growth in the legs revealed average differences of length of 2 mm and up to 3.5 cm in isolated cases. After eight year of life there was practically no further increase in the differences in length. PMID:4050042

  20. Role of protein rich maternal diet in infantile colic.

    PubMed

    Mhaske, Sunil; Mhaske, Sandeep; Badrinarayan, S; Zade, Rohan; Shirsath, Ujjwala

    2012-05-01

    Infantile colic in exclusively breastfed infant is very common. The mother in this situation gets panickyand under stress. This is very common emergency in paediatric hospital. Infantile colic is characterised by paroxysms of uncontrollable crying in an otherwise healthy and well fed infants younger than three months of age, more specifically infantile colic is defined as cry exceeding 180 minutes per 24 hours on 3 days in the week in first 3 months of life. The incidence of infantile colic is 5 to 19% in different studies. The mothers' description of this condition is that the breastfed baby who has been apparently alright in the day, frowns, his face becomes red, draws up his legs, screams, continues to cry for about 2 to 20 minutes and then attack ends suddenly. Episodes of cry are usually clustered in the late evening and early morning hours, which may cause significant disruption of family interactions. To find out the any supportive cause for infantile colic pertaining to maternal diet, we have conducted a study, where 110 crying infants were examined who happened to attend paediatric department over a period of one year. In this study it was found that more infants (50%) were in the age group >2-3 months, then >1-2 months (39.09%). Most of the patients happened to attend in casualty hours (5PM-9 AM) than in OPD hours (9 AM - 5 PM). Most cases (30.9%) took pulses in last 48 hours, followed by buffalo milk (20%). Most mothers (n=34) took pulses in diet in last 48 hours. It can be concluded that protein rich diet in one of the factor causing infantile colic. PMID:23360024

  1. The genetic landscape of infantile spasms.

    PubMed

    Michaud, Jacques L; Lachance, Mathieu; Hamdan, Fadi F; Carmant, Lionel; Lortie, Anne; Diadori, Paola; Major, Philippe; Meijer, Inge A; Lemyre, Emmanuelle; Cossette, Patrick; Mefford, Heather C; Rouleau, Guy A; Rossignol, Elsa

    2014-09-15

    Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ∼40% of patients. We hypothesized that unexplained IS cases represent a large collection of rare single-gene disorders. We investigated 44 children with unexplained IS using comparative genomic hybridisation arrays (aCGH) (n = 44) followed by targeted sequencing of 35 known epilepsy genes (n = 8) or whole-exome sequencing (WES) of familial trios (n = 18) to search for rare inherited or de novo mutations. aCGH analysis revealed de novo variants in 7% of patients (n = 3/44), including a distal 16p11.2 duplication, a 15q11.1q13.1 tetrasomy and a 2q21.3-q22.2 deletion. Furthermore, it identified a pathogenic maternally inherited Xp11.2 duplication. Targeted sequencing was informative for ARX (n = 1/14) and STXBP1 (n = 1/8). In contrast, sequencing of a panel of 35 known epileptic encephalopathy genes (n = 8) did not identify further mutations. Finally, WES (n = 18) was very informative, with an excess of de novo mutations identified in genes predicted to be involved in neurodevelopmental processes and/or known to be intolerant to functional variations. Several pathogenic mutations were identified, including de novo mutations in STXBP1, CASK and ALG13, as well as recessive mutations in PNPO and ADSL, together explaining 28% of cases (5/18). In addition, WES identified 1-3 de novo variants in 64% of remaining probands, pointing to several interesting candidate genes. Our results indicate that IS are genetically heterogeneous with a major contribution of de novo mutations and that WES is significantly superior to targeted re-sequencing in identifying detrimental genetic variants involved in IS. PMID:24781210

  2. Oral atenolol therapy for proliferating infantile hemangioma

    PubMed Central

    Ji, Yi; Wang, Qi; Chen, Siyuan; Xiang, Bo; Xu, Zhicheng; Li, Yuan; Zhong, Lin; Jiang, Xiaoping; Yang, Xiaodong

    2016-01-01

    Abstract Propranolol, a lipophilic nonselective β-blocker, has recently been reported to be the treatment of choice for select types of infantile hemangiomas (IHs). Atenolol is a hydrophilic, selective β1-blocker and therefore may be not associated with side effects attributable to β2-adrenergic receptor blockade and lipophilicity. However, the efficacy and safety of atenolol in the treatment of IH are poorly understood. The aim of this study was to evaluate the efficacy and safety of atenolol in the treatment of proliferating IHs. A study of 76 infants between the ages of 5 to 20 weeks with superficial or mixed IH was conducted between August 2013 and March 2015. Oral atenolol was administered in a progressive schedule to 1 mg/kg per day in a single dose. Efficacy was assessed using the Hemangioma Activity Score (HAS) at weeks 0, 1, 4, 12, and 24. Safety was evaluated at weeks 0, 1, 4, 8, 12, 16, 20, and 24. In total, 70 patients completed 24 weeks of treatment. IH growth abruptly stopped for 93.4% of patients within the fourth week of treatment with atenolol. In ulcerated IHs, complete healing of the ulcerations occurred in an average treatment time of 5.5 weeks. Atenolol treatment promoted dramatic decreases in HAS scores after week 1. An “excellent” treatment response (compete or nearly complete resolution of the IH) was observed in 56.5% of patients at week 24. No significant hypoglycemia, bronchospasm, bradycardia, or hypotension occurred. The most common adverse event was diarrhea, followed by agitation and sleep disturbance. This study demonstrated that atenolol was effective and safe at a dose of 1 mg/kg per day for 24 weeks in the treatment of proliferating IHs. PMID:27310994

  3. The epidemiology of infantile hypertrophic pyloric stenosis.

    PubMed

    Schechter, R; Torfs, C P; Bateson, T F

    1997-10-01

    Infants with infantile hypertrophic pyloric stenosis (IHPS) born from 1983 to 1988 and recorded in the California Birth Defects Monitoring Program (CBDMP) database were compared with their birth cohort by demographic characteristics and selected associated birth defects. We identified 1963 cases of IHPS for a cumulative incidence of 1.9 per 1000 livebirths. The cumulative incidence per 1000 livebirths was 2.4 in White, 1.8 in Hispanic, 0.7 in Black, and 0.6 in Asian infants. Between weeks 3-12 after birth, 1871 (95%) IHPS cases were diagnosed. Premature infants were diagnosed with IHPS later than term or post-term infants. The incidence of IHPS declined for those born to maternal age groups of > or = 25 years and, independently, for successive birth ranks. The probandwise concordance rate for IHPS in monozygous twins was less than unity (0.25-0.44), although higher than the concordance for dizygous twins (0.05-0.10). The incidence of Smith-Lemli-Opitz syndrome (SLO) diagnosed in infants with IHPS (3 of 1963) was 157-fold higher than the incidence of SLO diagnosed in the CBDMP population. IHPS occurs in all of the largest racial and ethnic groups in California, most frequently in White and Hispanic infants. Pyloric stenosis presents only within a brief phase of development, which may be delayed in premature infants. A predominant discordance of disease state in monozygous twins implies an aetiological role for undetermined environmental factors. The association between SLO, caused by deficient cholesterol synthesis, and IHPS deserves additional study. Infants with suspected SLO require close observation for the onset of IHPS.

  4. Hematopoietic stem cell transplantation for infantile osteopetrosis

    PubMed Central

    Fasth, Anders L.; Le Rademacher, Jennifer; He, Wensheng; Boelens, Jaap Jan; Horwitz, Edwin M.; Al-Seraihy, Amal; Ayas, Mouhab; Bonfim, Carmem M.; Boulad, Farid; Lund, Troy; Buchbinder, David K.; Kapoor, Neena; O’Brien, Tracey A.; Perez, Miguel A. Diaz; Veys, Paul A.; Eapen, Mary

    2015-01-01

    We report the international experience in outcomes after related and unrelated hematopoietic transplantation for infantile osteopetrosis in 193 patients. Thirty-four percent of transplants used grafts from HLA-matched siblings, 13% from HLA-mismatched relatives, 12% from HLA-matched, and 41% from HLA-mismatched unrelated donors. The median age at transplantation was 12 months. Busulfan and cyclophosphamide was the most common conditioning regimen. Long-term survival was higher after HLA-matched sibling compared to alternative donor transplantation. There were no differences in survival after HLA-mismatched related, HLA-matched unrelated, or mismatched unrelated donor transplantation. The 5- and 10-year probabilities of survival were 62% and 62% after HLA-matched sibling and 42% and 39% after alternative donor transplantation (P = .01 and P = .002, respectively). Graft failure was the most common cause of death, accounting for 50% of deaths after HLA-matched sibling and 43% of deaths after alternative donor transplantation. The day-28 incidence of neutrophil recovery was 66% after HLA-matched sibling and 61% after alternative donor transplantation (P = .49). The median age of surviving patients is 7 years. Of evaluable surviving patients, 70% are visually impaired; 10% have impaired hearing and gross motor delay. Nevertheless, 65% reported performance scores of 90 or 100, and in 17%, a score of 80 at last contact. Most survivors >5 years are attending mainstream or specialized schools. Rates of veno-occlusive disease and interstitial pneumonitis were high at 20%. Though allogeneic transplantation results in long-term survival with acceptable social function, strategies to lower graft failure and hepatic and pulmonary toxicity are urgently needed. PMID:26012570

  5. Part One: Infantile Spasms--The New Consensus

    ERIC Educational Resources Information Center

    Pellock, John

    2011-01-01

    Infantile spasms (IS, West syndrome) represent a difficult to treat and sometimes not immediately recognized form of epilepsy which is relatively rare. West Syndrome or IS is one of the most recognized types of epileptic encephalopathy, a form of epilepsy usually associated with developmental regression and delay, frequently difficult to treat and…

  6. Infantile Spasms and Cytomegalovirus Infection: Antiviral and Antiepileptic Treatment

    ERIC Educational Resources Information Center

    Dunin-Wasowicz, Dorota; Kasprzyk-Obara, Jolanta; Jurkiewicz, Elzbieta; Kapusta, Monika; Milewska-Bobula, Bogumila

    2007-01-01

    From 1 January 1995 to 31 December 2004, 22 patients (13 males, nine females; age range 2-12mo) with infantile spasms and cytomegalovirus (CMV) infection were treated with intravenous ganciclovir (GCV) and antiepileptic drugs. GCV was given for 3 to 12 weeks with a 1-month interval (one, two, or three courses). Epileptic spasms occurred before…

  7. Molecular genetics of infantile-onset retinal dystrophies.

    PubMed

    Moradi, P; Moore, A T

    2007-10-01

    Over the last decade there have been major advances in our understanding of the molecular pathology of inherited retinal dystrophies. This paper reviews recent advances in the identification of genetic mutations underlying infantile-onset inherited retinal disorders and considers how this knowledge may lead to novel therapeutic approaches.

  8. Conservative treatment of infantile subglottic hemangioma with corticosteroids.

    PubMed

    Kveton, J F; Pillsbury, H C

    1982-02-01

    Infantile subglottic hemangioma is a rare, potentially fatal cause of airway obstruction. Diagnosis is made by history, neck roentgenograms, and direct laryngoscopy. A regimen of high-dose intravenous steroids in combination with oxygen and a mist tent is the preferred mode of therapy in cases where tracheostomy is not required. PMID:7059313

  9. Molecular genetics of infantile-onset retinal dystrophies.

    PubMed

    Moradi, P; Moore, A T

    2007-10-01

    Over the last decade there have been major advances in our understanding of the molecular pathology of inherited retinal dystrophies. This paper reviews recent advances in the identification of genetic mutations underlying infantile-onset inherited retinal disorders and considers how this knowledge may lead to novel therapeutic approaches. PMID:17914438

  10. Infantile amnesia reflects a developmental critical period for hippocampal learning.

    PubMed

    Travaglia, Alessio; Bisaz, Reto; Sweet, Eric S; Blitzer, Robert D; Alberini, Cristina M

    2016-09-01

    Episodic memories formed during the first postnatal period are rapidly forgotten, a phenomenon known as 'infantile amnesia'. In spite of this memory loss, early experiences influence adult behavior, raising the question of which mechanisms underlie infantile memories and amnesia. Here we show that in rats an experience learned during the infantile amnesia period is stored as a latent memory trace for a long time; indeed, a later reminder reinstates a robust, context-specific and long-lasting memory. The formation and storage of this latent memory requires the hippocampus, follows a sharp temporal boundary and occurs through mechanisms typical of developmental critical periods, including the expression switch of the NMDA receptor subunits from 2B to 2A, which is dependent on brain-derived neurotrophic factor (BDNF) and metabotropic glutamate receptor 5 (mGluR5). Activating BDNF or mGluR5 after training rescues the infantile amnesia. Thus, early episodic memories are not lost but remain stored long term. These data suggest that the hippocampus undergoes a developmental critical period to become functionally competent. PMID:27428652

  11. The Organic Etiology of Infantile Autism: Myth or Fact?

    ERIC Educational Resources Information Center

    Sanua, Victor D.

    The author reviews theories and research on the etiology of infantile autism, specifically regarding its organic basis. He cites controversies over its organic vs. environmental basis and over the family's impact on autism. Quotes from such theoriests as L. Kanner, B. Bettleheim, and B. Rimland are presented along with E. R. Ritvo and M. Coleman.…

  12. Improving Outcomes in Infantile Spasms: Role of Pharmacotherapy.

    PubMed

    Iyer, Anand; Appleton, Richard

    2016-10-01

    Infantile spasms, and specifically within the context of West syndrome , is one of the most common epileptic encephalopathies to occur in early infancy. Early recognition and treatment can improve neurodevelopmental outcome in some cases, although the underlying aetiology is probably the most important prognostic factor in both spasm suppression and developmental outcome. Corticosteroids, either adrenocorticotrophic hormone (ACTH) or prednisolone, and vigabatrin are currently the preferred first-line treatment options. Vigabatrin is the treatment of choice when the underlying cause is tuberous sclerosis complex (TSC). Emerging evidence suggests that a combination of steroid and vigabatrin may be more effective in the suppression of spasms and resolution of hypsarrhythmia, the electro-encephalographic signal of spasms. Several other anti-epileptic drugs (AEDs) (levetiracetam, nitrazepam, sodium valproate, topiramate, zonisamide) are usually used as add-on or adjunctive treatment in refractory cases. Pyridoxine (or pyridoxal phosphate) and the ketogenic diet are established treatment options in refractory cases. There is some evidence that neuro-active steroids, including ganaxolone, may be effective; however, clinical trials undertaken intermittently for over a decade have yet to prove their efficacy, not only for the suppression of infantile spasms but also for the resolution of hypsarrhythmia, which may be as important as seizure control in developmental outcome in these children. Insights into developing novel treatment options have emerged from rodent models of infantile spasms, and research is continuing into the efficacy of rapamycin in improving outcomes in infantile spasms. This review provides a brief overview of the existing scientific literature around treatment options and outlines emerging newer treatment options in infantile spasms. PMID:27541933

  13. From Infantile Citizens to Infantile Institutions: The Metaphoric Transformation of Political Economy in the 2008 Housing Market Crisis

    ERIC Educational Resources Information Center

    Foley, Megan

    2012-01-01

    The logic of political economy depends on a domestic metaphor, using the "oikos" or household as a model for the "polis." Historically, this metaphor has imagined citizens as the children of a paternal state. However during the 2008 housing crisis, this metaphor was turned upside down, depicting citizens as the parents of infantile state…

  14. Infantile Hepatic Hemangioendothelioma: An Uncommon Cause of Persistent Pulmonary Hypertension in a Newborn Infant.

    PubMed

    Chatmethakul, Trassanee; Bhat, Ramachandra; Alkaabi, Maryam; Siddiqui, Abdul; Peevy, Keith; Zayek, Michael

    2016-07-01

    Multifocal and diffuse infantile hepatic hemangioendotheliomas commonly present with signs of high-output congestive heart failure. In addition, prolonged persistent pulmonary overcirculation eventually leads to the development of pulmonary hypertension at a later age. We report a 2-day old, full-term infant with multifocal, large infantile hepatic hemangioendothelioma, who presented with an early onset of pulmonary hypertension, managed successfully with supportive care and systemic therapy directed toward the involution of infantile hepatic hemangioendothelioma.

  15. Infantile Hepatic Hemangioendothelioma: An Uncommon Cause of Persistent Pulmonary Hypertension in a Newborn Infant

    PubMed Central

    Chatmethakul, Trassanee; Bhat, Ramachandra; Alkaabi, Maryam; Siddiqui, Abdul; Peevy, Keith; Zayek, Michael

    2016-01-01

    Multifocal and diffuse infantile hepatic hemangioendotheliomas commonly present with signs of high-output congestive heart failure. In addition, prolonged persistent pulmonary overcirculation eventually leads to the development of pulmonary hypertension at a later age. We report a 2-day old, full-term infant with multifocal, large infantile hepatic hemangioendothelioma, who presented with an early onset of pulmonary hypertension, managed successfully with supportive care and systemic therapy directed toward the involution of infantile hepatic hemangioendothelioma. PMID:27468364

  16. [Acupoint Selection Laws for Massage Therapy of Infantile Anorexia: an Analysis Based on Data Mining].

    PubMed

    Liu, Kai; Wang Jie; Wang, Yan-guo

    2016-06-01

    Massage prescriptions for treating infantile anorexia in Chinese Academic Journal Full-Text Database (CNKI, 1979-2012), Chinese Scientific and Technological Journal Full-Text Database (VIP, 1989-2012) and Wanfang Database (1990-2012) were collected. By using Chinese Medicine Inheritance Auxiliary Platform (Version 2.0) Software, 286 massage prescriptions for treatment of infantile anorexia were screened involved 76 acupoints, 20 commonly used acupoints, and 57 core acupoint combinations. Infantile Tuina specific points were used as main acupoints in massage therapy for infantile anorexia, and core acupoints covered Jizhu, Pi meridian, abdomen, Nei-Bagua, Zusanli (ST36), and Ban-men. PMID:27491238

  17. [Acupoint Selection Laws for Massage Therapy of Infantile Anorexia: an Analysis Based on Data Mining].

    PubMed

    Liu, Kai; Wang Jie; Wang, Yan-guo

    2016-06-01

    Massage prescriptions for treating infantile anorexia in Chinese Academic Journal Full-Text Database (CNKI, 1979-2012), Chinese Scientific and Technological Journal Full-Text Database (VIP, 1989-2012) and Wanfang Database (1990-2012) were collected. By using Chinese Medicine Inheritance Auxiliary Platform (Version 2.0) Software, 286 massage prescriptions for treatment of infantile anorexia were screened involved 76 acupoints, 20 commonly used acupoints, and 57 core acupoint combinations. Infantile Tuina specific points were used as main acupoints in massage therapy for infantile anorexia, and core acupoints covered Jizhu, Pi meridian, abdomen, Nei-Bagua, Zusanli (ST36), and Ban-men.

  18. [Infantile haemangioma: When investigation is necessary and current therapeutic developments].

    PubMed

    Eschard, C

    2015-01-01

    Infantile haemangioma (IH) is the most frequent benign tumour seen in children. In most cases, diagnosis is made chiefly on clinical grounds, and because the condition tends to subside naturally within several years and without any major sequelae, therapeutic abstention is the rule. However, a number of additional investigations may be necessary: where the clinical picture is atypical or potentially confusing, where the condition may affect adjacent or remote structures, in screening for associated anomalies in certain syndromal forms which practitioners must be able to recognise. Such investigations facilitate therapeutic indications for forms of haemangioma likely to lead to complications. The most important recent therapeutic development has been the discovery of the spectacular efficacy of beta-blockers (propranolol) upon the development kinetics of infantile haemangioma, greatly transforming the prognosis for these haemangiomas at risk.

  19. Involuntary movements in infantile cobalamin deficiency appearing after treatment.

    PubMed

    Ozer, E A; Turker, M; Bakiler, A R; Yaprak, I; Ozturk, C

    2001-07-01

    Involuntary movements may be a symptom in most infants who present with neurologic syndrome of infantile cobalamin (vitamin B12) deficiency. In this report, two infants with cobalamin deficiency are presented. These patients also developed a striking movement disorder that appeared a few days after treatment with intramuscular cobalamin. The movement disorder was characterized by severe involuntary movements, which were a combination of tremor and myoclonus particularly involving tongue, face, pharynx, and legs. The neurologic symptoms improved within a few days after the administration of clonazepam. In each patient the mother was also cobalamin deficient and the infant was solely breast-fed. The cause of involuntary movements that can appear rarely after treatment in infantile cobalamin deficiency is not known. Besides initial neurologic presenting symptoms of cobalamin deficiency, the occurrence of involuntary movements after treatment should also receive attention. This movement disorder may disappear spontaneously, or an additional treatment may be an alternative approach if the symptoms are severe.

  20. [Infantile haemangioma: When investigation is necessary and current therapeutic developments].

    PubMed

    Eschard, C

    2015-01-01

    Infantile haemangioma (IH) is the most frequent benign tumour seen in children. In most cases, diagnosis is made chiefly on clinical grounds, and because the condition tends to subside naturally within several years and without any major sequelae, therapeutic abstention is the rule. However, a number of additional investigations may be necessary: where the clinical picture is atypical or potentially confusing, where the condition may affect adjacent or remote structures, in screening for associated anomalies in certain syndromal forms which practitioners must be able to recognise. Such investigations facilitate therapeutic indications for forms of haemangioma likely to lead to complications. The most important recent therapeutic development has been the discovery of the spectacular efficacy of beta-blockers (propranolol) upon the development kinetics of infantile haemangioma, greatly transforming the prognosis for these haemangiomas at risk. PMID:26209506

  1. Infantile tumoral calcinosis of the cervical spine presenting as torticollis.

    PubMed

    Ashraf, Ali; Diehn, Felix E; Luetmer, Patrick H; Lane, John I; Fritchie, Karen; Larson, A Noelle

    2016-01-01

    The computed tomography (CT) and MRI findings of infantile tumoral calcinosis and the utility of image-guided biopsy are demonstrated. A 5-month old presented with torticollis and a calcified cervical spinal mass. The radiologic appearance suggested a malignant neoplasm, prompting CT-guided biopsy, which diagnosed tumoral calcinosis. We hope to increase awareness of this entity and describe image-guided biopsy as a way to avoid morbidity associated with open biopsy.

  2. Infantile myofibroma: a firm, round plaque in an infant.

    PubMed

    Amano, Shinya; Halsey, Mark; Yasuda, Mariko; O'Donnell, Patrick; Csikesz, Courtney

    2016-01-01

    Infantile myofibroma is a rare fibromatous tumor that is variable in presentation and is frequently mistaken for hemangioma or rhabdomyosarcoma. We describe a 14-month-old boy who presented with multiple, enlarging, firm lesions on the shoulder. Biopsy revealed a proliferation of small spindle cells with myxoid and hyalinized stroma infiltrating into the superficial adipose tissue. We provide a brief review of the clinical presentation, histopathologic features, management, and recent advances in our understanding of this rare condition. PMID:27617527

  3. Assessment of Infantile Mineral Imbalances in Autism Spectrum Disorders (ASDs)

    PubMed Central

    Yasuda, Hiroshi; Tsutsui, Toyoharu

    2013-01-01

    The interactions between genes and the environment are now regarded as the most probable explanation for autism. In this review, we summarize the results of a metallomics study in which scalp hair concentrations of 26 trace elements were examined for 1,967 autistic children (1,553 males and 414 females aged 0–15 years-old), and discuss recent advances in our understanding of epigenetic roles of infantile mineral imbalances in the pathogenesis of autism. In the 1,967 subjects, 584 (29.7%) and 347 (17.6%) were found deficient in zinc and magnesium, respectively, and the incidence rate of zinc deficiency was estimated at 43.5% in male and 52.5% in female infantile subjects aged 0–3 years-old. In contrast, 339 (17.2%), 168 (8.5%) and 94 (4.8%) individuals were found to suffer from high burdens of aluminum, cadmium and lead, respectively, and 2.8% or less from mercury and arsenic. High toxic metal burdens were more frequently observed in the infants aged 0–3 years-old, whose incidence rates were 20.6%, 12.1%, 7.5%, 3.2% and 2.3% for aluminum, cadmium, lead, arsenic and mercury, respectively. These findings suggest that infantile zinc- and magnesium-deficiency and/or toxic metal burdens may be critical and induce epigenetic alterations in the genes and genetic regulation mechanisms of neurodevelopment in the autistic children, and demonstrate that a time factor “infantile window” is also critical for neurodevelopment and probably for therapy. Thus, early metallomics analysis may lead to early screening/estimation and treatment/prevention for the autistic neurodevelopment disorders. PMID:24284360

  4. Infantile spasms are associated with abnormal copy number variations.

    PubMed

    Tiwari, Vijay N; Sundaram, Senthil K; Chugani, Harry T; Huq, A H M M

    2013-10-01

    The authors tested the hypothesis that de novo copy number variations (CNVs) implicated in known genomic disorders ("pathogenic CNVs") are significant predisposing factors of infantile spasms. The authors performed a genome-wide analysis of single-nucleotide polymorphism genotyping microarray data to identify the role of de novo/known pathogenic large CNVs in 13 trios of children affected by infantile spasms. A rare, large (4.8 Mb) de novo duplication was detected in the 15q11-13 region of 1 patient. In addition, 3 known pathogenic CNVs (present in the patient as well as 1 of the parents) were detected in total. In 1 patient, a known pathogenic deletion was detected in the region of 2q32.3. Similarly, in 1 other patient, 2 known pathogenic deletions in the regions of 16p11.2 and Xp22.13 (containing CDKL5) were detected. These findings suggest that some specific pathogenic CNVs predispose to infantile spasms and may be associated with different phenotypes. PMID:22914377

  5. Acupuncture in Practice: Investigating Acupuncturists' Approach to Treating Infantile Colic

    PubMed Central

    2013-01-01

    Infantile colic is common, but no safe and effective conventional treatment exists. The use of acupuncture has increased despite weak evidence. This practitioner survey explores and discusses how infantile colic is regarded and treated in Traditional Chinese Medicine (TCM). The study is based on personal communication with 24 acupuncturists from nine countries. These acupuncturists specialize in pediatric acupuncture and represent different styles of acupuncture. Their experiences are discussed and related to relevant books and articles. Informants claimed good results when treating infants with colic. The TCM patterns commonly described by informants matched the textbooks to a great extent. The most common syndromes were “stagnation of food” and “Spleen Qi Xu.” Regarding treatment, some informants followed the teachers' and the textbook authors' advice on differentiated treatment according to syndrome. The points used most often were LI4, ST36, and Sifeng. Other informants treated all infants alike in one single point, LI4. The results demonstrate the diversity of TCM. The use of acupuncture for infantile colic presents an interesting option, but further research is needed in order to optimize the effects and protect infants from unnecessary or less effective treatment. PMID:24324513

  6. A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism

    PubMed Central

    Diniz, Gulden; Olukman, Ozgur; Calkavur, Sebnem; Buyukinan, Muammer; Altay, Canan

    2015-01-01

    Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion. PMID:26576309

  7. Infantile acne: a retrospective study of 16 cases.

    PubMed

    Hello, Muriel; Prey, Sorilla; Léauté-Labrèze, Christine; Khammari, Amir; Dreno, Brigitte; Stalder, Jean-François; Barbarot, Sébastien

    2008-01-01

    Infantile acne is a rare and poorly understood disorder. The objective of this study was to improve our knowledge about the epidemiology and clinical course of infantile acne, and evaluate approaches to treatment. This two-center retrospective study covered the period between 1985 and 2007. Inclusion criteria were: (i) age less than 24 months when lesions appeared; (ii) presence of both inflammatory and noninflammatory lesions; (iii) persistence of lesions for at least 2 months. The data were drawn from clinical and photographic records, followed by administration of a telephone questionnaire to parents. It was proposed that each case be reviewed on the basis of the child's appearance and score on an acne scar clinical grading scale. Sixteen children were included. Nine had a family history of severe adolescent acne. The average duration of disease was 22 months. Two patients had been effectively treated with oral isotretinoin. More than half of the patients exhibited scars. We re-examined five children (average acne scar clinical grading scale score = 12/540). On the basis of the frequency of scarring, and the severity and average duration of lesions, the use of oral retinoids in severe infantile acne warrants evaluation.

  8. Infantile amnesia reconsidered: a cross-cultural analysis.

    PubMed

    Wang, Qi

    2003-01-01

    A number of theories have been offered over the past hundred years to explain the phenomenon of infantile amnesia, the common inability to remember autobiographical experiences from the first years of life. Recent comparative studies that examine autobiographical memories in different populations, particularly populations in North America and East Asia, have yielded intriguing findings that provide a unique opportunity to revisit some of the major theoretical views and to propose new accounts. In light of these findings, this article discusses five theoretical explanations for infantile amnesia, including cognitive and social discontinuity, the emergence of the self, early parent-child memory sharing, functions of autobiographical memory, and the complexity of life experience. The reconsideration of infantile amnesia from a cross-cultural perspective suggests that while the basic mechanisms and contributing factors may be universal, the specific ways in which these mechanisms and factors are manifested differ qualitatively across cultures. A theoretical approach that takes the larger cultural context into account can help us understand this long-standing puzzle. PMID:12653489

  9. Growth Hormone Induces Recurrence of Infantile Hemangiomas After Apparent Involution: Evidence of Growth Hormone Receptors in Infantile Hemangioma.

    PubMed

    Munabi, Naikhoba C O; Tan, Qian Kun; Garzon, Maria C; Behr, Gerald G; Shawber, Carrie J; Wu, June K

    2015-01-01

    Infantile hemangiomas (IHs) are the most common benign tumor of infancy, characterized by a natural history of early proliferation in the first months of life to eventual involution during childhood, often with residual fibrofatty tissue. Once involution has been achieved, IHs do not typically recur. We present two cases of exogenous growth hormone therapy resulting in the recurrence of IHs in late childhood, supported by radiological, immunohistochemical, in vitro, and in vivo evidence.

  10. Extensive facial and orbital infantile hemangiomas associated with high intraocular pressure.

    PubMed

    Shatriah, Ismail; Norazizah, Mohd-Amin; Wan-Hitam, Wan-Hazabbah; Wong, Abd-Rahim; Yunus, Rohaizan; Leo, Seo-Wei

    2013-01-01

    High intraocular pressure is a rare ophthalmic condition associated with infantile hemangiomas that involves the orbit, eyelid, or both. Here, we describe a patient with extensive facial and orbital infantile hemangiomas associated with high intraocular pressure in the affected eye. The prompt management of this challenging condition is essential. PMID:22329437

  11. Spectrum of Infantile Esotropia in Primates: Behavior, Brains and Orbits

    PubMed Central

    Tychsen, Lawrence; Richards, Michael; Wong, Agnes; Foeller, Paul; Burhkalter, Andreas; Narasimhan, Anita; Demer, Joseph

    2009-01-01

    Introduction Recent studies of human infants have described a spectrum of early-onset esotropia, from small-variable-angle to large heterotropias.1 We report here a similar spectrum of early-onset esotropia in infant monkeys, with emphasis on the relationship between visuomotor deficits, central nervous system (CNS) circuitry and orbital anatomy. Methods Eye movements were recorded in macaque monkeys with natural, infantile-onset esotropia (n=7) and in control monkeys (n=2) to assess alignment, latent nystagmus, dissociated vertical deviation (DVD), and pursuit/optokinetic nystagmus (OKN) asymmetries. Acuity was measured by preferential-looking technique or spatial sweep VEP (SSVEP). Geniculo-striate pathways were then analyzed with neuroanatomic tracers and metabolic labels. Extraocular muscles were examined by high-resolution magnetic resonance imaging (MRI) and anatomic sectioning of whole orbits. Results Esotropia ranged from 4-13.5° (7-24 prism diopters [PD]) with fixation preference (if any) varying idiosyncratically (as in human). Severity of ocular motor dysfunction (i.e. nystagmus velocity, DVD amplitude, pursuit-OKN nasal bias index), increased as the magnitude of esotropia angle. Animals with greater ocular motor deficits tended to have greater visual area V1 (striate cortex) neuroanatomic deficits, evident as fewer binocular horizontal connections in V1. Orbital MRI/anatomic analysis showed no difference in horizontal rectus cross sectional areas, muscle paths, innervation densities or cytoarchitecture compared to normal animals. Conclusion The infantile esotropia spectrum in non-human primates is remarkably similar to that reported in human infants. Concomitant esotropia in these primates cannot be ascribed to abnormalities of the extraocular muscles or orbit. These findings, combined with epidemiologic studies of human, suggest that perturbations of CNS binocular pathways in early development are the primary cause of the infantile esotropia syndrome

  12. Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

    PubMed Central

    Rockman-Greenberg, Cheryl; Ozono, Keiichi; Riese, Richard; Moseley, Scott; Melian, Agustin; Thompson, David D.; Bishop, Nicholas; Hofmann, Christine

    2016-01-01

    Context: Hypophosphatasia (HPP) is an inborn error of metabolism that, in its most severe perinatal and infantile forms, results in 50–100% mortality, typically from respiratory complications. Objectives: Our objective was to better understand the effect of treatment with asfotase alfa, a first-in-class enzyme replacement therapy, on mortality in neonates and infants with severe HPP. Design/Setting: Data from patients with the perinatal and infantile forms of HPP in two ongoing, multicenter, multinational, open-label, phase 2 interventional studies of asfotase alfa treatment were compared with data from similar patients from a retrospective natural history study. Patients: Thirty-seven treated patients (median treatment duration, 2.7 years) and 48 historical controls of similar chronological age and HPP characteristics. Interventions: Treated patients received asfotase alfa as sc injections either 1 mg/kg six times per week or 2 mg/kg thrice weekly. Main Outcome Measures: Survival, skeletal health quantified radiographically on treatment, and ventilatory status were the main outcome measures for this study. Results: Asfotase alfa was associated with improved survival in treated patients vs historical controls: 95% vs 42% at age 1 year and 84% vs 27% at age 5 years, respectively (P < .0001, Kaplan-Meier log-rank test). Whereas 5% (1/20) of the historical controls who required ventilatory assistance survived, 76% (16/21) of the ventilated and treated patients survived, among whom 75% (12/16) were weaned from ventilatory support. This better respiratory outcome accompanied radiographic improvements in skeletal mineralization and health. Conclusions: Asfotase alfa mineralizes the HPP skeleton, including the ribs, and improves respiratory function and survival in life-threatening perinatal and infantile HPP. PMID:26529632

  13. [Clinical guidelines for infantile-onset Pompe disease].

    PubMed

    Pascual-Pascual, S I; Nascimento, A; Fernandez-Llamazares, C M; Medrano-Lopez, C; Villalobos-Pinto, E; Martinez-Moreno, M; Ley, M; Manrique-Rodriguez, S; Blasco-Alonso, J

    2016-09-16

    Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.

  14. A rare case of infantile myofibromatosis and review of literature.

    PubMed

    Hausbrandt, Peter A; Leithner, Andreas; Beham, Alfred; Bodo, Koppany; Raith, Johannes; Windhager, Reinhard

    2010-01-01

    Infantile myofibromatosis is a rare benign tumor-disease (1/400,000). Four different types have been reported in literature. The most commonly affected body areas are the head, the neck, and the trunk. We would like to present a rare case of a multicentric type with singular visceral involvement and a literature review of all case series with more than five patients. A 9-month-old boy presented with a swelling on the medial side of his proximal left tibia. The lesion which was present since birth, was well palpable, indolent, hard, and mobile in relation to the surrounding tissue. Radiographic films and ultrasound examination presented a pretibial soft-tissue tumor mass with calcifications and two osteolytic lesions with a sclerotic rim. A skeletal survey showed more osteolytic lesions, but the magnetic resonance imaging showed no more soft-tissue lesions. The rapid frozen section biopsy hinted at the diagnosis of histiocytosis X. The definitive histological result 6 days later was infantile myofibromatosis. As therapy, we determined a wait-and-see policy with controls all 3 months. At 20 months follow-up, the boy showed beginning of regression of all lesions. Infantile myofibromatosis is a very rare benign tumor-disease. Radiologically often soft-tissue masses with calcifications and osteolytic lesions with sclerotic rims are described. These findings also can be interpreted as histiocytosis X, which is a potential differential diagnosis. Histopathologically, cells characteristically appear as spindle-shaped fibroblast cells with pale pink cytoplasm and elongated nuclei and the immunophenotype is defined with a positive reaction on smooth-muscle antigen vimentin and the muscle-specific antigen HHF-35. The data of the literature review underline that a wait-and-see-policy should be considered as the first treatment of choice as in most instances the bony lesions regress spontaneously. However, a thorough examination has to be carried out to exclude lesion in other

  15. Clinical Characteristics and Treatment Options of Infantile Vascular Anomalies

    PubMed Central

    Yang, Bin; Li, Li; Zhang, Li-xin; Sun, Yu-juan; Ma, Lin

    2015-01-01

    Abstract To analyze the clinical characteristics and treatment outcomes of vascular anomalies, and determine which therapy is safe and effective. The data of vascular anomalies pediatric patients who arrived at Beijing children's Hospital from January 2001 to December 2014 were analyzed retrospectively, including the influence of gender, age, clinical manifestation, diagnosis, treatment options, and outcomes. As to infantile hemangiomas, the outcomes of different treatments and their adverse reactions were compared. As to spider angioma and cutaneous capillary malformation, the treatment effect of 595 nm pulsed dye laser (PDL) is analyzed. A total number of 6459 cases of vascular anomalies were reclassified according to the 2014 ISSVA classification system. Among them, the gender ratio is 1:1.69, head-and-neck involved is 53.3%, the onset age within the first month is 72.4%, the age of initial encounter that younger than 6 months is 60.1%. The most common anomalies were infantile hemangiomas (42.6%), congenital hemangiomas (14.1%), and capillary malformations (29.9%). In treating infantile hemangiomas, laser shows the lowest adverse reactions rate significantly. Propranolol shows a higher improvement rate than laser, glucocorticoids, glucocorticoids plus laser, and shows no significant difference with propranolol plus laser both in improvement rate and adverse reactions rate. The total improvement rate of 595 nm PDL is 89.8% in treating spider angioma and 46.7% in treating cutaneous capillary malformation. The improvement rate and excellent rate of laser in treating cutaneous capillary malformation are growing synchronously by increasing the treatment times, and shows no significant difference among different parts of lesion that located in a body. Vascular anomalies possess a female predominance, and are mostly occurred in faces. Definite diagnosis is very important before treatment. In treating infantile hemangioma, propranolol is recommended as the first

  16. Symmetrical infantile thalamic degeneration with focal cytoplasmic calcification.

    PubMed

    Ambler, M; O'Neil, W

    1975-10-27

    Infantile thalamic degeneration is a rare clinico-pathological entity. Restricted location of the lesion and peculiar cytopathological changes serve to distinguish this disorder from other common encephalopathies. Optical and ultrastructural studies demonstrate cytoplasmic calcopherules in previously viable cells. According to current concepts of acute cellular reactions to injury and mechanism of intracellular calcification, the cytological changes cannot be attributed to either hypoxic ischemic cell change or dystrophic calcification. By analogy to other human and pathological material, the most likely basis for nondystrophic calcopherule formation is toxic or infectious injury with local synthesis, or autophagic or phagolysosomal degradation of cellular debris of specific chemical composition favoring calcium deposition.

  17. [Clinical guidelines for infantile-onset Pompe disease].

    PubMed

    Pascual-Pascual, S I; Nascimento, A; Fernandez-Llamazares, C M; Medrano-Lopez, C; Villalobos-Pinto, E; Martinez-Moreno, M; Ley, M; Manrique-Rodriguez, S; Blasco-Alonso, J

    2016-09-16

    Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known. PMID:27600742

  18. Review of topical beta blockers as treatment for infantile hemangiomas.

    PubMed

    Painter, Sally L; Hildebrand, Göran Darius

    2016-01-01

    The treatment of infantile hemangiomas changed from the use of oral corticosteroids to oral propranolol on the serendipitous discovery of propanolol's clinical effectiveness in 2008. Since then, clinicians have begun to use topical beta blockers--in particular, timolol maleate 0.5% gel forming solution--with good effect. Topical beta blockers are now used for lesions with both deep and superficial components and those that are amblyogenic. When initiated in the proliferative phase of the lesion, the effectiveness of the treatment can be seen within days. There is no consensus on dosing, treatment bioavailability, or clinical assessment of lesions, but these are topics for future research.

  19. Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder.

    PubMed

    Mandel, H; Meiron, D; Schutgens, R B; Wanders, R J; Berant, M

    1992-01-01

    This article describes two siblings with infantile Refsum disease (IRD) whose initial presentation was that of malabsorption and mimicked a-beta- or homozygous hypo-beta-lipoproteinemia. Failure to recognize IRD in the first-born child precluded proper genetic counseling and prenatal diagnosis in subsequent pregnancies and also caused considerable delay in diagnosing IRD in the second child. The clinical heterogeneity of peroxisomal disorders constitutes a diagnostic challenge, which demands a high degree of awareness from the part of the clinician. This is particularly the case with IRD, where protracted diarrhea with low serum cholesterol levels appears to be a frequently occurring initial feature during the 1st months of life.

  20. [Motor-coordination disorders in patients with infantile cerebral palsy].

    PubMed

    Aslanov, A M; Avakian, G N; Bulaeva, N V; Kovaleva, N I

    1984-01-01

    A clinico-electrophysiological study of motor-coordinatory impairments was carried out in 117 patients with infantile cerebral paralysis. The results obtained suggest a possibility of a slow rate of myelinization, inadequate development of the coordinatory systems due to early damage to the brain associated with the systemic localization of the defect, and the obligatory involvement of extrapyramidal impairments in the realization of pathological dyskinesias. The clinical and electrophysiological examination made it possible to sum up all clinical manifestations of the pathology under a heading "discoordinatory extrapyramidal dyskinesias". PMID:6506951

  1. Infantile Systemic Hyalinosis: Report of 17-year Experience

    PubMed Central

    Raeeskarami, Seyed Reza; Aghighi, Yahya; Afshin, Azadeh; Malek, Abdolreza; Zamani, Ali; Ziaee, Vahid

    2014-01-01

    Background: Infantile Systemic Hyalinosis (ISH) is a very rare autosomal recessive disorder characterized by connective tissue involvement as hyaline deposition in skin, gastrointestinal tract, muscles, glands and other organs. Cases Presentation: We report eight Iranian children (4 male and 4 female) with ISH referred to our hospital from 1996 to 2013. The illness had been diagnosed by clinical manifestations and disease progression. Six of them died and two are alive but very sick. Conclusion: ISH is a very rare disorder with poor prognosis. Seventy five percent of our 8 patients died before 2 years old due to severe diarrhea, malabsorption and/or infection. PMID:26019786

  2. Infantile hydrocephalus: a review of epidemiology, classification and causes.

    PubMed

    Tully, Hannah M; Dobyns, William B

    2014-08-01

    Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research. PMID:24932902

  3. Infantile hydrocephalus: a review of epidemiology, classification and causes.

    PubMed

    Tully, Hannah M; Dobyns, William B

    2014-08-01

    Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research.

  4. Eruption hematoma as a possible oral sign of infantile scurvy.

    PubMed

    Adewumi, Abi O; Ashoor, Isa F; Soares, Flavio M; Guelmann, Marcio; Novak, Donald A

    2010-01-01

    Scurvy, vitamin C deficiency, is uncommon in industrialized societies today. Although supplementation of food with vitamin C has diminished its incidence, scurvy continues to occur in specific economically and nutritionally disadvantaged populations. The purpose of this report was to describe the case of infantile scurvy in a 20-month-old male with multisystem involvement including significant oral manifestations. Following an extensive initial evaluation, the multidisciplinary approach to diagnosis and management is discussed. This case demonstrates the need for heightened awareness of severe and multiplefood allergies in children and highlights disease conditions caused by nutritional deficiencies in this population.

  5. Insidious peripheral neuropathy occurring under treatment in infantile MTHFR deficiency.

    PubMed

    Chaabene-Masmoudi, A; Mesrati, F; Zittoun, J; Landrieu, P

    2009-12-01

    5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency was diagnosed in a 1-month-old baby with signs of cerebral distress. Under a classic treatment using methionine supplementation, methyl donor (betaine) folinic acid, vitamin B(6) and vitamin B(12), the neuromotor development was satisfactory. At 15 years of age, however, despite no clear modification of the biochemical markers in body fluids, she developed a clinically overt peripheral axonal neuropathy. Only partial clinical improvement was obtained after reinforcement of betaine doses. Surveillance of the peripheral nerve is indicated in MTHFR deficiency, including in the infantile form with a good therapeutic compliance.

  6. Early vs. late refeeding in acute infantile diarrhea.

    PubMed

    Gazala, E; Weitzman, S; Weizman, Z; Gross, J; Bearman, J E; Gorodischer, R

    1988-03-01

    A randomized ambulatory trial was performed to compare early (6-h) vs. late (24-h) refeeding in acute infantile diarrhea. Ninety infants with mild dehydration were enrolled in the study. Following an initial oral rehydration period (WHO formula), refeeding was introduced using a diet based on either breast milk or cow's milk. Early (n = 53) and late (n = 37) refeeding groups were similar in ethnic background, socioeconomic level, relevant past history, nutritional and clinical state, and stool pathogens. Infants were assessed upon their initial visit, at 24 and 48 h, and at 7 and 14 days thereafter for evaluation of weight, hydration state, stool frequency and need of hospitalization. No significant differences in the above parameters were observed between the two groups. Different patterns of refeeding (breast milk vs. cow's milk) in both early and late refeeding groups showed no significant differences in the features studied. Since the short-term clinical outcome following early refeeding in acute infantile diarrhea is not different from late refeeding, we suggest that early refeeding should be preferred, particularly in developing populations, in order to minimize the adverse nutritional effects of prolonged fasting during recurrent bouts of gastroenteritis. PMID:3286579

  7. Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe?

    PubMed

    Shyng, Charles; Sands, Mark S

    2014-10-01

    Infantile neuronal ceroid lipofuscinosis (INCL; infantile Batten disease) is an inherited paediatric neurodegenerative disease. INCL is caused by a deficiency in the lysosomal enzyme palmitoyl-protein thioesterase-1 (PPT1) and is thus classified as a lysosomal storage disease. Pathological examination of both human and murine INCL brains reveals progressive, widespread neuroinflammation. In fact, astrocyte activation appears to be the first histological sign of disease. However, the role of astrocytosis in INCL was poorly understood. The hallmark of astrocyte activation is the up-regulation of intermediate filaments, such as glial fibrillary acidic protein (GFAP) and vimentin. The role of astrocytosis in INCL was studied in a murine model lacking PPT1 and the intermediate filaments GFAP and vimentin (triple-knockout). This murine model of INCL with attenuated astrocytosis had an exacerbated pathological and clinical phenotype. The triple-knockout mouse had a significantly shortened lifespan, and accelerated cellular and humoural neuroinflammatory response compared with the parental PPT1(-/-) mouse. The data obtained from the triple-knockout mouse strongly suggest that astrocyte activation plays a beneficial role in early INCL disease progression. A more thorough understanding of the glial responses to lysosomal enzyme deficiencies and the accumulation of undergraded substrates will be crucial to developing effective therapeutics.

  8. Infantile fibrosarcoma of ethmoid sinus, misdiagnosed as an adenoid in a 5-year-old child.

    PubMed

    Geramizadeh, Bita; Khademi, Bijan; Karimi, Mehran; Shekarkhar, Golsa

    2015-01-01

    Infantile fibrosarcoma of head and neck is rare and the presence of this tumor in ethmoid sinus is even more uncommon. To the best of our knowledge, <5 cases have been reported in the last 20 years in the English literature, so far, only one of which has been infantile type in a 15 months old girl. In this case report, we will explain our experience with a rare case of infantile fibrosarcoma originating from ethmoid sinus in a 5-year-old boy who presented with dyspnea and epistaxis. After biopsy, it was diagnosed as fibrosarcoma of sinus origin. PMID:26604519

  9. Effectiveness of Mentha piperita in the Treatment of Infantile Colic: A Crossover Study.

    PubMed

    Alves, João Guilherme Bezerra; de Brito, Rita de Cássia Coelho Moraes; Cavalcanti, Telma Samila

    2012-01-01

    Background. Infantile colic is a distressing and common condition for which there is no proven standard treatment. Objective. To compare the efficacy of Mentha piperita with simethicone in treatment for infantile colic. Methods. A double-blind crossover study was performed with 30 infants attending IMIP, Recife, Brazil. They were randomized to use Mentha piperita or simethicone in the treatment of infantile colic during 7 days with each drug. Primary outcomes were mother_s opinion about responses to the treatment, number of daily episodes of colic, and time spent crying, measured by a chronometer. Mann-Whitney and chi-square tests were used to compare the results. This study was previously approved by the Ethical Committee in Research at IMIP. Results. At baseline daily episodes of infantile colic was 3.9 (±1.1) and the mean crying time per day was 192 minutes (±51.6). At the end of the study daily episodes of colic fell to 1.6 (±0.6) and the crying duration decreased to 111 (±28) minutes. All mothers reported decrease of frequency and duration of the episodes of infantile colic and there were no differences between responses to Mentha piperita and simethicone. Conclusions. These findings suggest that Mentha piperita may be used to help control infantile colic. However, these results must be repeated by others studies.

  10. Persistent neurogenic bladder dysfunction due to infantile botulism.

    PubMed

    Breinbjerg, Anders; Rittig, Søren; Kamperis, Konstantinos

    2014-01-13

    We present a child, 5 months of age, diagnosed with infantile botulism, showing the signs of neurogenic bladder dysfunction. The patient presented with progressive muscle weakness, hypotonia, suckling and swallowing problems and absent peripheral reflexes at clinical examination. Botulinum neurotoxin type A was detected in her serum, confirming the diagnosis. Starting at day 6, the girl presented with a urinary retention initially necessitating free bladder drainage and subsequently intermittent catheterisation. After 6 weeks in intensive care, the patient recovered but the bladder underactivity persisted. Four months following recovery, a urodynamic evaluation was performed, showing a near normal detrusor activity and normal bladder emptying, and the catheterisation was ceased. At 6 months, the girl was diagnosed with a urinary tract infection and bladder emptying problems, which persisted, and clean intermittent catheterisation was started. The final urodynamic evaluation, a year and a half after her initial presentation, revealed a normal detrusor activity and an adequate bladder emptying.

  11. Infantile refsum disease with enamel defects: a case report.

    PubMed

    Tran, Dorothy; Greenhill, William; Wilson, Stephen

    2011-01-01

    The purpose of this paper was to present the case of a 15-year-old female diagnosed with infantile Refsum disease (IRD) that presented with generalized enamel defects in the primary and permanent dentition. IRD is an inherited autosomal recessive disorder characterized by aberrant peroxisome function. IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor defects; and cerebral ataxia. Craniofacial abnormalities reported include: high forehead; hypoplastic supraorbital ridges; epicanthal folds; midface hypoplasia; and large anterior fontanelle. At present, there is only one known report of dental anomaly associated with this syndrome. This represents the first known reported case in the pediatric dental literature.

  12. Conventional and advanced MR imaging in infantile Refsum disease.

    PubMed

    Kılıç, Mustafa; Karlı-Oğuz, Kader; Haliloğlu, Göknur; Topçu, Meral; Wanders, Ronald James; Coşkun, Turgay

    2015-01-01

    We report magnetic resonance (MR) imaging findings including diffusion-weighted imaging and proton MR spectroscopy findings in a patient with infantile Refsum disease. The initial diagnosis was made on the basis of history, clinical findings and biochemical studies. Bilateral and symmetrical involvement of the peritrigonal white matter, centrum semiovale, thalami, corpus callosum and corticospinal tracts as assessed by increased T2 signal was highly suggestive of a peroxisomal disorder. Facilitated diffusion was observed in diseased parenchyma. Long echo-time (TE: 270 ms) MRS showed decreased N-acetyl-aspartate/creatine and elevated choline/creatine and lactate; short echo-time MRS (TE: 30 ms) revealed increased myoinositol at 3.56 ppm and lipid peaks at 0.9 and 1.3 ppm. A major contribution to the differential diagnosis came from MR imaging and proton MRS, as discussed in this report.

  13. [Neurovegetative and hypothalamic syndromes in children with infantile cerebral palsy].

    PubMed

    Maslova, O I; Lebedev, B V

    1980-01-01

    An analysis of the neuropsychic and vegetative status of 108 children aged 3 months to 7 years suffering from infantile cerebral paralysis has shown that in a great part of the patients a neurovegetative or hypothalamic syndrome can be additionally specified. An analysis of the totality of the background vegetative characteristics shows that the effection of this division of the nervous system is of a mixed character. Different direction of the vegetative reactions, i.e. sympathetic or parasympathetic, can be noted in different forms of the paralysis. The neurovegetative syndrome can be discerned in children with a noticeable psychic defect, while the hypothalamic one in children with a good psychic development. PMID:7435028

  14. [The infantile sexual seduction: revolution and aftermath of Freud's theory].

    PubMed

    Figueroa, Gustavo C

    2014-01-01

    There is no question about the negative effects of child sexual abuse. Freud's seduction theory asserts that psychoneuroses in adults are caused by reactivation of forgotten recollections of gross sexual abuse (involving the genitals) that had taken place prior to the age of 8 to 10 years. His contribution consisted in the discovery of specific events, prior to puberty, which were indispensable to the formation of psychoneuroses. If an adult patient recalled an infantile sexual experience, Freud assumed the interference of a pervert: a child was sexually innocent unless it had been traumatized. But Freud's technique of clinical exploration had not attained adequate reliability and was not immune to prejudices. Freud himself dropped his mechanical, static theory that presupposed a single type of accidentally occurring trauma prior to puberty, allowing him to develop his new drive and fantasy theory.

  15. [Neuroanatomical, genetic and neurochemical aspects of infantile autism].

    PubMed

    Gerhant, Aneta; Olajossy, Marcin; Olajossy-Hilkesberger, Luiza

    2013-01-01

    Infantile autism is a neurodevelopmental disorder characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. Although the cause of these disorders is not yet known, studies strongly suggest a genetic basis with a complex mode of inheritance. The etiopathogenetic processes of autism are extremely complex, which is reflected in the varying course and its symptomatology. Trajectories of brain development and volumes of its structures are aberrant in autistic patients. It is suggested that disturbances in sertotoninergic, gabaergic, glutaminergic, cholinergic and dopaminergic neurotransmission can be responsible for symptoms of autism as well as can disturb the development of the young brain. The objective of this article is to present the results of reasearch on neuroanatomical, neurochemical and genetic aspects of autism.

  16. Risk factors for infantile hypothermia in early neonatal life.

    PubMed

    Zabelle, J; Dagan, R; Neumann, L; Sofer, S

    1990-06-01

    Hypothermia in infancy is not uncommon among the low socioeconomic population in various parts of the world. It is prevalent in Israel and is associated with severe morbidity and mortality. We tried to identify neonates at risk among the population of the Negev district of Israel. Ninety-one infant hospitalized with infantile hypothermia (IH) during the years 1974 to 1981 were identified. The neonates belonged to two distinct ethnic groups, Bedouins and Jews, and were compared with 120 healthy controls of similar background. Our data show that premature infants and babies with low birth weight born during the cold season to young (inexperienced) mothers of lower socioeconomic strata and who sustained perinatal morbidity are at risk for IH. It is suggested that parents of infants at risk should be approached while the baby is till in the nursery, be advised about the possibility of hypothermia, and institute the appropriate preventive measures.

  17. An anatomical commentary on the concept of infantile oral sadism.

    PubMed

    Freeman, R; Freeman, T

    1992-01-01

    Although this paper is entitled 'An anatomical commentary on the concept of infantile oral sadism' it is also an attempt to examine hypotheses regarding the sources of oral sadism. Freud did not explicitly refer to an oral sadistic phase of development in early infancy, believing as he did that sadism was a component instinct. Abraham postulated that oral sadism arises when the teeth erupt and the jaw muscles function. Melanie Klein, however, came to claim that oral sadistic impulses operate from birth and arise from the infant's innate potential for fantasy. This hypothesis is akin to Freud's theory of primal fantasies. The anatomical record supports Abraham's theory of the source of oral sadism. PMID:1512124

  18. Pulmonary infantile hemangioma presenting as a mass in a premature male infant: a case report focusing on pathological features.

    PubMed

    Siaghani, Parwiz J; Chavez, Claire; Anselmo, Dean M; Shane, Lisa

    2015-01-01

    Infantile hemangiomas are the most common benign neoplasm of infancy, with most occurring in the head and neck region. Predisposing factors include prematurity, low birth weight, multiple gestations, advanced maternal age, and chorionic villous sampling. In addition, white women, particularly those with a family history, are also at a higher risk. However, pulmonary infantile hemangiomas are exceedingly rare, with only a few case reports in the literature. Infantile hemangiomas should be considered in the differential diagnosis of a pulmonary mass in the early pediatric population. We present a case of pulmonary infantile hemangioma in a premature male infant successfully managed by surgical excision, with an emphasis on the pathogenesis and histologic features.

  19. Neoadjuvant Chemotherapy for Facilitating Surgical Resection of Infantile Massive Intracranial Immature Teratoma.

    PubMed

    Kitahara, Takahiro; Tsuji, Yoshihito; Shirase, Tomoyuki; Yukawa, Hiroyuki; Takeichi, Yasuhiro; Yamazoe, Naohiro

    2016-01-01

    Immature teratoma (IMT) is the most frequent histological subtype of infantile intracranial teratoma, the most common congenital brain tumor. IMT contains incompletely differentiated components resembling fetal tissues. Infantile intracranial IMT has a dismal prognosis, because it is often inoperable due to its massive size and high vascularity. Neoadjuvant chemotherapy has been shown to be effective in decreasing tumor volume and vascularity to facilitate surgical resection in other types of infantile brain tumors. However, only one recent case report described the effectiveness of neoadjuvant chemotherapy for infantile intracranial IMT in the literature, even though it is common entity with a poor prognosis in infants. Here, we describe the case of a 2-month-old male infant with a very large intracranial IMT. Maximal surgical resection was first attempted but was unsuccessful because of severe intraoperative hemorrhage. Neoadjuvant carboplatin and etoposide (CARE) chemotherapy was then administered with the aim of shrinking and devascularizing the tumor. After neoadjuvant chemotherapy, tumor size did not decrease, but intraoperative blood loss significantly decreased and near-total resection was achieved by the second and third surgery. The patient underwent adjuvant CARE chemotherapy and has been alive for 3 years after surgery without tumor regrowth. Even when neoadjuvant chemotherapy does not decrease tumor volume of infantile intracranial IMT, surgical resection should be tried because chemotherapy can facilitate surgical resection and improve clinical outcome by reducing tumor vascularity. PMID:27039944

  20. Ontogeny of memory: An update on 40 years of work on infantile amnesia.

    PubMed

    Madsen, Heather Bronwyn; Kim, Jee Hyun

    2016-02-01

    Given the profound influence that early life experiences can have upon psychosocial functioning later in life, it is intriguing that most adults fail to recall autobiographical events from their early childhood years. Infantile amnesia is the term used to describe this phenomenon of accelerated forgetting during infancy, and it is not unique to humans. Over the years, information garnered from animal studies has provided clues as to the neurobiological basis of infantile amnesia. The purpose of this review is to provide a neurobiological update on what we now know about infantile amnesia since the publication of Campbell and Spear's seminal review on the topic more than 40 years ago. We present evidence that infantile amnesia is unlikely to be explained by a unitary theory, with the protracted development of multiple brain regions and neurotransmitter systems important for learning and memory likely to be involved. The recent discovery that exposure to early life stress can alleviate infantile amnesia offers a potential explanation as to how early adversity can so profoundly affect mental health in adulthood, and understanding the neurobiological basis for this early transition may lead to the development of effective therapeutic interventions.

  1. New optional photodynamic therapy laser wavelength for infantile port wine stains: 457 nm

    NASA Astrophysics Data System (ADS)

    Wang, Ying; Zuo, Zhaohui; Gu, Ying; Huang, Naiyan; Chen, Rong; Li, Buhong; Qiu, Haixia; Zeng, Jing; Zhu, Jianguo; Liang, Jie

    2012-06-01

    To expand the optional laser wavelengths of photodynamic therapy (PDT) for port wine stain (PWS), the feasibility of applying a 457 nm laser to the PDT for infantile PWS was analyzed by mathematical simulation and was validated by clinical experiment. Singlet oxygen yield of 457 nm PDT or 532 nm PDT in an infantile PWS model and an adult PWS model was theoretically simulated. Fifteen PWS patients (14 infants and 1 adult) with 40 spots were treated with 457 nm (20 spots) and 532 nm (20 spots), respectively, in two PDT courses. Simulation results showed that under the same power density and irradiation time, singlet oxygen yield of 457 nm PDT and 532 nm PDT are similar in infantile PWS vessels. Yet, in adult PWS vessels, singlet oxygen yield of 457 nm PDT is lower than 532 nm PDT. Clinical outcomes showed that no statistic difference existed between 457 nm PDT and 532 nm PDT for infantile PWS. The result of this study suggested that 457 nm wavelength laser has the potential to be applied in PDT for infantile PWS.

  2. Evaluation of clinical course and neurocognition in children with self-limited infantile epilepsy in a Turkish cohort study.

    PubMed

    Bozaykut, Abdulkadir; Aksoy, Halil Ural; Sezer, Rabia Gönül; Polat, Muzaffer

    2015-03-01

    The outcome of children with self-limited infantile epilepsy was reported to be normal psychosocial and cognitive development as a characteristic criterion. We aimed to investigate the clinical course and neurocognitive outcome in children with self-limited infantile epilepsy in a Turkish cohort. The clinical course, electroencephalographic (EEG) characteristics, neuroimaging, treatment, and outcome of children with self-limited infantile epilepsy were retrospectively analyzed. All infants were reevaluated with the Denver Developmental Screening Test in addition to neurologic examination. Of 44 patients, self-limited familial infantile epilepsy was diagnosed in 8 infants (18.2%) and self-limited nonfamilial infantile epilepsy in 28 (63.6%). Interictal EEGs and neurologic examinations were normal in all cases. Fine motor and gross motor skills, language, adaptive personal/social skills were near-normal in all patients with self-limited familial infantile epilepsy. Delay in language parameters was observed in 2 infants with self-limited nonfamilial infantile epilepsy. Language skills should be thoroughly evaluated with detailed neurocognitive screening tests in patients with self-limited infantile epilepsy.

  3. Infantile onset diabetes mellitus in developing countries - India

    PubMed Central

    Varadarajan, Poovazhagi

    2016-01-01

    Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India. PMID:27022444

  4. Efficacious Healing of Ulcerated Infantile Hemangiomas Using Topical Timolol

    PubMed Central

    Chang, Chun-Shin

    2016-01-01

    Summary: Infantile hemangiomas (IHs) are the most common benign pediatric soft-tissue tumors. Ulceration—the most frequent complication of IH—tends to heal poorly and is associated with pain, bleeding, infection, and scarring. Mainstay treatment modalities include propranolol (β-blocker) and corticosteroids, whose effectiveness is countered by a need for long-term medication and risk of systemic adverse effects and ulcer recurrence. A 3-month-old infant presented to us with a large, medial thigh-ulcerated IH that progressed despite 2 prior months of dressings and topical antimicrobials. Topical timolol 0.5% thrice daily was initiated, and significant healing was evident at 1 week, with complete healing at 1 month. Timolol was stopped after 3 months, and at 18 months after cessation of timolol, there was no ulcer recurrence. This novel therapy for ulcerated IH seems to have many advantages such as rapid efficacy with easy application, no systemic adverse effects and no long-term recurrence, and current literature describing similar advantages justifies the use of this treatment modality in infants. PMID:27014550

  5. Infantile onset diabetes mellitus in developing countries - India.

    PubMed

    Varadarajan, Poovazhagi

    2016-03-25

    Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India. PMID:27022444

  6. Incidence and treatment of infantile haemangioma in preterm infants.

    PubMed

    Goelz, Rangmar; Poets, Christian F

    2015-01-01

    Infantile haemangioma (IH) are vascular tumours with a unique growth dynamic, mostly absent at birth, growth in the first months followed by involution over several years, often resulting in residual skin changes. Immune-histologically, IH cells are exclusively glucose transporter protein-1 positive.The incidence of IH is increasing with decreasing gestational age, from 1-4% in term infants to 23% in those of <1000 g birth weight, with a female and Caucasian predominance. Discovery of systemic and topical beta blockers as an effective treatment option resulted in a rapid shift away from systemic steroids towards these drugs. For preterm infants, however, data on efficacy, pharmacokinetics and long-term safety are sparse or absent. Topical treatment without systemic side effects like cryotherapy may thus be an attractive alternative at an early growth stage (<10 mm). Indications for treatment with beta blockers, mostly propranolol systemically and timolol maleat 0.5% topically, are currently extrapolated from studies in older infants. Both seem effective, but adverse effects on sleep, circulation and metabolism are well described for propranolol. Long-term outcome data for either drug are missing. In conclusion, evidence on optimal IH treatment in preterms is lacking despite their high incidence; pharmacokinetic and clinical studies are warranted.

  7. Endoscopic goniotomy: a potential surgical procedure for primary infantile glaucoma

    NASA Astrophysics Data System (ADS)

    Joos, Karen M.; Alward, Wallace L. M.; Folberg, Robert

    1993-06-01

    Goniotomy is an effective treatment for primary infantile glaucoma. Unlike trabeculotomy, goniotomy facilitates the visualization of the trabecular meshwork and does not disturb the conjunctiva. Because a cloudy cornea may prevent a clear view of the anterior chamber angle through the operating microscope, we investigated whether an endoscope would improve visualization during goniotomy in pig cadaver eyes. We deepened the anterior chamber of each pig eye with viscoelastic material. A modified 23-gauge needle attached to an Olympus 0.8 mm diameter flexible fiberoptic endoscope entered the anterior chamber through a 3 mm limbal incision. The angle was clearly seen on a videoscreen as the needle approached and incised the trabecular pillars for 120 degree(s); the iris immediately fell back. Following the procedure, the eyes were fixed in formalin and sectioned for light microscopy, or fixed in 2% glutaraldehyde for scanning electron microscopy. Trabecular pillars were present from the iris root to Schwalbe's line in the untreated region of the anterior chamber angle. The treated area demonstrated incision of the trabecular pillars with opening of the underlying trabecular meshwork.

  8. Autopsy findings in two siblings with infantile Refsum disease.

    PubMed

    Chow, C W; Poulos, A; Fellenberg, A J; Christodoulou, J; Danks, D M

    1992-01-01

    Recognition of adrenal atrophy during a review of autopsy findings in two sisters who died at 8 months and 3 1/2 years prompted estimation of very long chain fatty acids, phytanic acid and pristanic acid on wet liver fixed in formalin for 12 years. These were shown to be markedly increased and defects in multiple peroxisomal functions and decrease in particulate catalase were shown in cultured fibroblasts, confirming an abnormality of peroxisomal biogenesis. The patients had presented with failure to thrive, recurrent diarrhoea and vomiting, poor mental development, retinal pigmentation, blindness and in the older patient deafness, with only mild dysmorphic features. Autopsy in the older patient showed adrenal atrophy, cirrhosis, and foamy histiocytes in multiple organs. The brain showed no demyelination, little cytoarchitectural abnormality, occasional perivascular histiocytes in the grey matter and meninges and prominent Purkinje cells in the molecular layer of the cerebellum. In the younger patient the changes were very subtle in spite of the marked clinical similarity. Despite the young age at death the clinicopathological features are most suggestive of infantile Refsum disease. In many situations anatomical pathology can be very useful in the recognition and study of peroxisomal disorders.

  9. Contribution of Embodiment to Solving the Riddle of Infantile Amnesia.

    PubMed

    Glenberg, Arthur M; Hayes, Justin

    2016-01-01

    At least since the late nineteenth century, researchers have sought an explanation for infantile amnesia (IA)-the lack of autobiographical memories dating from early childhood-and childhood amnesia (CA), faster forgetting of events up until the age of about seven. Evidence suggests that IA occurs across altricial species, and a number of studies using animal models have converged on the hypothesis that maturation of the hippocampus is an important factor. But why does the hippocampus mature at one time and not another, and how does that maturation relate to memory? Our hypothesis is rooted in theories of embodied cognition, and it provides an explanation both for hippocampal development and the end of IA. Specifically, the onset of locomotion prompts the alignment of hippocampal place cells and grid cells to the environment, which in turn facilitates the ontogeny of long-term episodic memory and the end of IA. That is, because the animal can now reliably discriminate locations, location becomes a stable cue for memories. Furthermore, as the mode of human locomotion shifts from crawling to walking, there is an additional shift in the alignment of the hippocampus that marks the beginning of adult-like episodic memory and the end of CA. Finally, given a reduction in self-locomotion and exploration with aging, the hypothesis suggests a partial explanation for cognitive decline with aging. PMID:26834683

  10. Infantile zinc deficiency: Association with autism spectrum disorders

    PubMed Central

    Yasuda, Hiroshi; Yoshida, Kazuya; Yasuda, Yuichi; Tsutsui, Toyoharu

    2011-01-01

    Elucidation of the pathogenesis and effective treatment of autism spectrum disorders is one of the challenges today. In this study, we examine hair zinc concentrations for 1,967 children with autistic disorders (1,553 males and 414 females), and show considerable association with zinc deficiency. Histogram of hair zinc concentration was non-symmetric with tailing in lower range, and 584 subjects were found to have lower zinc concentrations than −2 standard deviation level of its reference range (86.3–193ppm). The incidence rate of zinc deficiency in infant group aged 0–3 year-old was estimated 43.5 % in male and 52.5 % in female. The lowest zinc concentration of 10.7 ppm was detected in a 2-year-old boy, corresponding to about 1/12 of the control mean level. These findings suggest that infantile zinc deficiency may epigenetically contribute to the pathogenesis of autism and nutritional approach may yield a novel hope for its treatment and prevention. PMID:22355646

  11. Infantile Systemic Hyalinosis: A Case Report with a Novel Mutation

    PubMed Central

    Al Sinani, Siham; Al Murshedy, Fathyia; Abdwani, Reem

    2013-01-01

    Infantile Systemic Hyalinosis (ISH) (OMIM 236490) is a rare, progressive and fatal autosomal recessive disorder characterized by multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, diarrhea with protein losing enteropathy, and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. It is caused by mutations in the ANTXR2 (also known as CMG2) gene, which encodes a trans-membranous protein involved in endothelial development and basement membrane-extracellular matrix assembly. We describe a child with classical features of ISH presenting in infancy with severe chronic debilitating pain and progressive joint contractures. The diagnosis was confirmed by molecular DNA sequencing of ANTXR2 gene which revealed a novel homozygous mutation not previously reported; 79 bp deletion of the entire exon 11 (c.867_945del, p.E289DfsX22). Although this is the first reported case of ISH in Oman, we believe that the disease is under-diagnosed since children affected with this lethal disease pass away early in infancy prior to establishing a final diagnosis. PMID:23386947

  12. Contribution of Embodiment to Solving the Riddle of Infantile Amnesia

    PubMed Central

    Glenberg, Arthur M.; Hayes, Justin

    2016-01-01

    At least since the late nineteenth century, researchers have sought an explanation for infantile amnesia (IA)—the lack of autobiographical memories dating from early childhood—and childhood amnesia (CA), faster forgetting of events up until the age of about seven. Evidence suggests that IA occurs across altricial species, and a number of studies using animal models have converged on the hypothesis that maturation of the hippocampus is an important factor. But why does the hippocampus mature at one time and not another, and how does that maturation relate to memory? Our hypothesis is rooted in theories of embodied cognition, and it provides an explanation both for hippocampal development and the end of IA. Specifically, the onset of locomotion prompts the alignment of hippocampal place cells and grid cells to the environment, which in turn facilitates the ontogeny of long-term episodic memory and the end of IA. That is, because the animal can now reliably discriminate locations, location becomes a stable cue for memories. Furthermore, as the mode of human locomotion shifts from crawling to walking, there is an additional shift in the alignment of the hippocampus that marks the beginning of adult-like episodic memory and the end of CA. Finally, given a reduction in self-locomotion and exploration with aging, the hypothesis suggests a partial explanation for cognitive decline with aging. PMID:26834683

  13. Infantile hypertrophic pyloric stenosis in Belfast, 1957-1969.

    PubMed Central

    Dodge, J A

    1975-01-01

    Infants with hypertrophic pyloric stenosis born in Belfast during the 13 years 1957-1969 have been reviewed. Their distribution shows a bias towards higher social classes, breast feeding, and primogeniture. Obstetric factors and parental ages seem to be of no importance. More affected infants were born during winter months than would be expected. The overall incidence of infantile pyloric stenosis in this community has fallen during the period under review. Clinically, the patients started vomiting at a mean age of 22 days and it is recommended that the condition should not be called 'congenital'. The size of the tumour is mainly determined by the size of the patient, rather than by his age or duration of symptoms. Attention is drawn to the occurrence of haematemesis in 17-5% and melaena in 2-9% of infants. Jaundice occurred in 1-8% of patients in this series, and is attributed to the adverse effect of starvation on hepatic glucuronyl transferase activity. Other conditions noted in these patients included inguinal hernia, partial thoracic stomach, and phenylketonuria. Subsequent growth and development were in the anticipated range. PMID:1170811

  14. Infantile sexuality: Its place in the conceptual developments of Anna Freud and Donald W. Winnicott.

    PubMed

    Joyce, Angela

    2016-06-01

    This essay explores the place of infantile sexuality in the theories of Anna Freud and Donald W Winnicott. Both Anna Freud and D.W. Winnicott incorporated and at the same time changed the classical psychoanalytic account of infantile sexuality and the instinctual drives. Whilst Anna Freud remained closer to her father's original conceptualization, she developed a multidimensional model of development which gave the drives a foundational status whist also maintaining their significance in giving meaning and texture to children's subjective experience. Winnicott also retained much of S. Freud's original theorizing except that in a fundamental way he turned it on its head when considering earliest development. For him the establishment of the self was paramount, and the drives and infantile sexuality merely served to give substance to that self. PMID:27437634

  15. Infantile sexuality: Its place in the conceptual developments of Anna Freud and Donald W. Winnicott.

    PubMed

    Joyce, Angela

    2016-06-01

    This essay explores the place of infantile sexuality in the theories of Anna Freud and Donald W Winnicott. Both Anna Freud and D.W. Winnicott incorporated and at the same time changed the classical psychoanalytic account of infantile sexuality and the instinctual drives. Whilst Anna Freud remained closer to her father's original conceptualization, she developed a multidimensional model of development which gave the drives a foundational status whist also maintaining their significance in giving meaning and texture to children's subjective experience. Winnicott also retained much of S. Freud's original theorizing except that in a fundamental way he turned it on its head when considering earliest development. For him the establishment of the self was paramount, and the drives and infantile sexuality merely served to give substance to that self.

  16. Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

    PubMed

    Poll-The, B T; Saudubray, J M; Ogier, H A; Odièvre, M; Scotto, J M; Monnens, L; Govaerts, L C; Roels, F; Cornelis, A; Schutgens, R B

    1987-09-01

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present. More recent findings showed a biochemical profile very similar to that found in classical Zellweger syndrome or neonatal adrenoleukodystrophy. Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction. Because of these similarities pertinent clinical data of our three patients are compared with those of reported patients diagnosed as having infantile Refsum disease, neonatal adrenoleukodystrophy or Zellweger syndrome who survived for several years. Attention is drawn to the difference in severity of clinical features, ranging from infantile Refsum's disease to neonatal adrenoleukodystrophy and, finally, to Zellweger syndrome.

  17. Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome.

    PubMed

    Saito, Yoshiaki; Kubota, Masaya; Kurosawa, Kenji; Ichihashi, Izumi; Kaneko, Yuu; Hattori, Ayako; Komaki, Hirofumi; Nakagawa, Eiji; Sugai, Kenji; Sasaki, Masayuki

    2011-05-01

    A 3-months-old boy presented with partial seizures that soon evolved into infantile spasms. Magnetic resonance imaging revealed bilateral perisylvian polymicrogyria with right-sided predominance. ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized. Conventional G-banded chromosomal analysis was performed due to his distinctive features and a derivative chromosome 1 derived from parental balanced translocation with a karyoptype of 46,XY,der(1)t(1;4)(p36.23;q35) was detected. Fluorescent in situ hybridization analysis confirmed the deleted region of 1p36 as large as 8.6Mb. This is the first delineation of concurrent complications of infantile spasms and polymicrogyria in patient with 1p36 deletion. 1p36 deletion syndrome should be broadly recognized as a differential diagnosis of regional polymicrogyria and/or infantile spasms.

  18. Sodium-channel defects in benign familial neonatal-infantile seizures.

    PubMed

    Heron, Sarah E; Crossland, Kathryn M; Andermann, Eva; Phillips, Hilary A; Hall, Allison J; Bleasel, Andrew; Shevell, Michael; Mercho, Suha; Seni, Marie-Helene; Guiot, Marie-Christine; Mulley, John C; Berkovic, Samuel F; Scheffer, Ingrid E

    2002-09-14

    Ion-channel gene defects are associated with a range of paroxysmal disorders, including several monogenic epilepsy syndromes. Two autosomal dominant disorders present in the first year of life: benign familial neonatal seizures, which is associated with potassium-channel gene defects; and benign familial infantile seizures, for which no genes have been identified. Here, we describe a clinically intermediate variant, benign familial neonatal-infantile seizures, with mutations in the sodium-channel subunit gene SCN2A. This clinico-molecular correlation defines a new benign familial epilepsy syndrome beginning in early infancy, an age at which seizure disorders frequently have a sombre prognosis.

  19. Severe, persistent, and fatal T-cell immunodeficiency following therapy for infantile leukemia.

    PubMed

    Geerlinks, Ashley V; Issekutz, Thomas; Wahlstrom, Justin T; Sullivan, Kathleen E; Cowan, Morton J; Dvorak, Christopher C; Fernandez, Conrad V

    2016-11-01

    We describe five cases of children who completed chemotherapy for infantile acute lymphoblastic leukemia (ALL) and soon after were diagnosed with severe T-cell, non-HIV immunodeficiency, with varying B-cell and NK-cell depletion. There was near absence of CD3(+) , CD4(+) , and CD8(+) cells. All patients developed multiple, primarily opportunistic infections. Unfortunately, four patients died, although one was successfully treated by hematopoietic stem cell transplantation. These immunodeficiencies appeared to be secondary to intensive infant ALL chemotherapy. Our report highlights the importance of the early consideration of this life-threatening immune complication in patients who received chemotherapy for infantile ALL.

  20. The therapy of infantile malignant brain tumors: current status?

    PubMed

    Kalifa, Chantal; Grill, Jacques

    2005-12-01

    Malignant brain tumors are not uncommon in infants as their occurrence before the age of three represents 20-25% of all malignant brain tumors in childhood [1]. Genetic predisposition to infantile malignant brain tumors are known in Gorlin syndrome for example who present with desmoplastic medulloblastoma in about 5% of the affected patients. In addition, sequelae from tumor and its treatment are more severe at this age [2]. Thus, malignant brain tumors represent a true therapeutic challenge in neuro-oncology. Before the era of modern imaging and modern neurosurgery these malignant brain tumors were misdiagnosed or could not benefit of the surgical procedures as well as older children because of increased risks in this age group. Since the end of the 80s, noninvasive imaging procedures produce accurate diagnosis of brain tumors and improvement in neurosurgery, neuroanesthesia and perioperative intensive care permit safe tumor resections or at least biopsies. Consequently, the pediatric oncologists are more often confronted with very young children who need a complementary treatment. Before the development of specific approaches for this age group, these children received the same kind of treatment than the older children did, but their survival and quality of life were significantly worse. The reasons of these poor results were probably due in part to the fear of late effects induced by radiation therapy, leading to decrease the necessary doses of irradiation which increased treatment failures without avoiding treatment related complications [3]. At the end of the 80s, pilot studies were performed using postoperative chemotherapy in young medulloblastoma patients. Van Eys treated 12 selected children with medulloblastoma with MOPP regimen and without irradiation; 8 of them were reported to be long term survivors [4]. Subsequently, the pediatric oncology cooperative groups studies have designed therapeutic trials for very young children with malignant brain tumors

  1. Propranolol treatment of infantile hemangioma endothelial cells: A molecular analysis.

    PubMed

    Stiles, Jessica; Amaya, Clarissa; Pham, Robert; Rowntree, Rebecca K; Lacaze, Mary; Mulne, Arlynn; Bischoff, Joyce; Kokta, Victor; Boucheron, Laura E; Mitchell, Dianne C; Bryan, Brad A

    2012-10-01

    Infantile hemangiomas (IHs) are non-malignant, largely cutaneous vascular tumors affecting approximately 5-10% of children to varying degrees. During the first year of life, these tumors are strongly proliferative, reaching an average size ranging from 2 to 20 cm. These lesions subsequently stabilize, undergo a spontaneous slow involution and are fully regressed by 5 to 10 years of age. Systemic treatment of infants with the non-selective β-adrenergic receptor blocker, propranolol, has demonstrated remarkable efficacy in reducing the size and appearance of IHs. However, the mechanism by which this occurs is largely unknown. In this study, we sought to understand the molecular mechanisms underlying the effectiveness of β blocker treatment in IHs. Our data reveal that propranolol treatment of IH endothelial cells, as well as a panel of normal primary endothelial cells, blocks endothelial cell proliferation, migration, and formation of the actin cytoskeleton coincident with alterations in vascular endothelial growth factor receptor-2 (VEGFR-2), p38 and cofilin signaling. Moreover, propranolol induces major alterations in the protein levels of key cyclins and cyclin-dependent kinase inhibitors, and modulates global gene expression patterns with a particular affect on genes involved in lipid/sterol metabolism, cell cycle regulation, angiogenesis and ubiquitination. Interestingly, the effects of propranolol were endothelial cell-type independent, affecting the properties of IH endothelial cells at similar levels to that observed in neonatal dermal microvascular and coronary artery endothelial cells. This data suggests that while propranolol markedly inhibits hemangioma and normal endothelial cell function, its lack of endothelial cell specificity hints that the efficacy of this drug in the treatment of IHs may be more complex than simply blockage of endothelial function as previously believed.

  2. MRI Verification of a Case of Huge Infantile Rhabdomyoma

    PubMed Central

    Ramadani, Naser; Kreshnike, Kreshnike Dedushi; Muçaj, Sefedin; Kabashi, Serbeze; Hoxhaj, Astrit; Jerliu, Naim; Bejiçi, Ramush

    2016-01-01

    Introduction: Cardiac rhabdomyoma is type of benign myocardial tumor that is the most common fetal cardiac tumor. Cardiac rhabdomyomas are usually detected before birth or during the first year of life. They account for over 60% of all primary cardiac tumors. Case report: A 6 month old child with coughing and obstruction in breathing, was hospitalized in the Pediatric Clinic in UCCK, Pristine. The difficulty of breathing was heard and the pathological noise of the heart was noticed from the pediatrician. In the echo of the heart at the posterior and apico-lateral part of the left ventricle a tumoral mass was presented with the dimensions of 56 × 54 mm that forwarded the contractions of the left ventricle, the mass involved also the left ventricle wall and was not vascularized. The right ventricle was deformed and with the shifting of the SIV on the right the contractility was preserved. Aorta, the left arch and AP were normal with laminar circulation. The pericard was presented free. Radiography of thoracic organs was made; it resulted on cardiomegaly and significant bronchovascular drawing. It was completed with an MRI and it resulted on: Cardiomegaly due to large tumoral mass lesion (60×34 mm) involving lateral wall of left ventricle. It was isointense to the muscle on T1W images, markedly hyperintense on T2W images. There were a few septa or bant like hypointensities within lesion. On postcontrast study it showed avid enhancement. The left ventricle volume was decreased. Mild pericardial effusion was also noted. Surgical intervention was performed and it resulted on the histopathological aspect as a huge infantile rhadbomyoma. Conclusion: In most cases no treatment is required and these lesions regress spontaneously. Patients with left ventricular outflow tract obstruction or refractory arrhythmias respond well to surgical excision. Rhabdomyomas are frequently diagnosed by means of fetal echocardiography during the prenatal period. PMID:27147810

  3. The Temporal Impulse Response Function in Infantile Nystagmus

    PubMed Central

    Bedell, Harold E.; Ramamurthy, Mahalakshmi; Patel, Saumil S.; Subramaniam, Shobana; Vu-Yu, Lan-Phuong; Tong, Jianliang

    2008-01-01

    Despite rapid to-and-fro motion of the retinal image that results from their incessant involuntary eye movements, persons with infantile nystagmus (IN) rarely report the perception of motion smear. We performed two experiments to determine if the reduction of perceived motion smear in persons with IN is associated with an increase in the speed of the temporal impulse response. In Experiment 1, increment thresholds were determined for pairs of successively presented flashes of a long horizontal line, presented on a 65 cd/m2 background field. The stimulus-onset asynchrony (SOA) between the first and second flash varied from 5.9 to 234 ms. In experiment 2, temporal contrast sensitivity functions were determined for a 3 cpd horizontal square wave grating that underwent counterphase flicker at temporal frequencies between 1 and 40 Hz. Data were obtained for 2 subjects with predominantly pendular IN and 8 normal observers in Experiment 1 and for 3 subjects with IN and 4 normal observers in Experiment 2. Temporal impulse response functions (TIRFs) were estimated as the impulse response of a linear second-order system that provided the best fit to the increment threshold data in Experiment 1 and to the temporal contrast sensitivity functions in Experiment 2. Estimated TIRFs of the subjects with pendular IN have natural temporal frequencies that are significantly faster than those of normal observers (ca. 13 vs. 9 Hz), indicating an accelerated temporal response to visual stimuli. This increase in response speed is too small to account by itself for the virtual absence of perceived motion smear in subjects with IN, and additional neural mechanisms are considered. PMID:18550143

  4. Foraminotomia cervical posterior en el tratamiento de conflictos foraminales

    PubMed Central

    Campero, Álvaro; Barrera, Ramiro; Ajler, Pablo

    2012-01-01

    Introducción: La foraminomotima cervical posterior es un procedimiento utilizado para la descompresion radicular por via posterior y constituye una alternativa a la via clásica anterior. En este trabajo evaluamos nuestra serie de pacientes tratados por esta via. Método: Desde enero de 2008 a diciembre de 2011, 17 pacientes (18 foraminotomías) fueron operados por presentar cervicobraquialgia a causa de un conflicto foraminal, realizando un foraminotomía cervical posterior. Los pacientes fueron evaluados en el postoperatorio inmediato, al mes y a los 3 meses de la cirugía. Los parámetros para valorar los resultados fueron la Escala Análoga del Dolor (VAS), la Neck Disability Index y los criterios de Odom. Resultados: El dolor radicular por conflicto foraminal secundario a hernia de disco cervical fue el síntoma y la patología predominante. El nivel más afectado fue C5-C6. La resolución completa del dolor radicular se observó en casi todos los pacientes. La VAS preoperatoria en promedio fue de 8.8 (mínimo 8 – máximo 10), con una franca mejoría en todos los casos (0.4 en el último control). La media en la Neck Disability Index al inicio fue de 35.3 (mínimo 32 – máximo 45), con una evolución favorable en la evaluación final (0.6). Los Criterios de Odom para la evaluación de pacientes operados de columna cervical fueron satisfactorios con un promedio de 1.17. Se observaron complicaciones en 4 pacientes (23%), todas tuvieron una evolución favorable. No hubo infecciones, discitis ni empeoramiento de los síntomas preexistentes en ningún paciente. Conclusión: La foraminotomía cervical posterior es un procedimiento efectivo para el tratamiento del dolor radicular en los conflictos foraminales PMID:23596556

  5. The Empty Fortress; Infantile Autism and the Birth of the Self.

    ERIC Educational Resources Information Center

    Bettelheim, Bruno

    The nature, origin, and treatment of infantile autism are explored with a consideration of the child's world of encounter and case histories. The beginning of life, called the region of shadows, is mentioned; and the world of the newborn, body language, mutuality, autonomy, the autistic anlage, and the right side of time are examined for the…

  6. Autoimmune Diseases in Parents of Children with Infantile Autism: A Case--Control Study

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben; Nedergaard, Niels Jorgen

    2007-01-01

    This register study compared the rates and types of autoimmune disease in the parents of 111 patients (82 males, 29 females; mean age at diagnosis 5y 5mo [SD 2y 6mo]) with infantile autism (IA) with a matched control group of parents of 330 children from the general population. All parents were screened through the nationwide Danish National…

  7. Molecular Correlates of Age-Dependent Seizures in an Inherited Neonatal-Infantile Epilepsy

    ERIC Educational Resources Information Center

    Liao, Yunxiang; Deprez, Liesbet; Maljevic, Snezana; Pitsch, Julika; Claes, Lieve; Hristova, Dimitrina; Jordanova, Albena; Ala-Mello, Sirpa; Bellan-Koch, Astrid; Blazevic, Dragica; Schubert, Simone; Thomas, Evan A.; Petrou, Steven; Becker, Albert J.; De Jonghe, Peter; Lerche, Holger

    2010-01-01

    Many idiopathic epilepsy syndromes have a characteristic age dependence, the underlying molecular mechanisms of which are largely unknown. Here we propose a mechanism that can explain that epileptic spells in benign familial neonatal-infantile seizures occur almost exclusively during the first days to months of life. Benign familial…

  8. Infantile hemangioendothelioma of the liver: a radiologic-pathologic-clinical correlation

    SciTech Connect

    Dachman, A.H.; Lichtenstein, J.E.; Friedman, A.C.; Hartman, D.S.

    1983-06-01

    Infantile hemangioendothelioma is the most common symptomatic vascular liver tumor of infancy. It is considered a benign tumor; however, aggressive behavior is occasionally seen microscopically, and rarely distant metastases have been reported. The exact incidence of infantile hemangioendothelioma is difficult to determine because often it has been either misdiagnosed or mislabeled as cavernous hemangioma in the literature. Cavernous hemangioma is the most common primary liver tumor in older age groups but is rarely found in infants as a clinically significant tumor. Levick and Rubie were the first to recognize an association between hemangioendothelioma of the liver and congestive heart failure, and there were subsequent reports substantiating this association. However, it is our impression and the finding of others that congestive heart failure is distinctly less common than abdominal mass or hepatomegaly as the presenting sign in infantile hemangioendothelioma. Congestive heart failure is rarely a feature of cavernous hemangioma. Because of the errors in terminology and questions regarding clinical presentation, a radiologic-pathologic-clinical correlation study of infantile hemangioendothelioma and review of the literature was undertaken.

  9. Phenotypical Characteristics of Idiopathic Infantile Nystagmus with and without Mutations in "FRMD7"

    ERIC Educational Resources Information Center

    Thomas, Shery; Proudlock, Frank A.; Sarvananthan, Nagini; Roberts, Eryl O.; Awan, Musarat; McLean, Rebecca; Surendran, Mylvaganam; Kumar, A. S. Anil; Farooq, Shegufta J.; Degg, Chris; Gale, Richard P.; Reinecke, Robert D.; Woodruff, Geoffrey; Langmann, Andrea; Lindner, Susanne; Jain, Sunila; Tarpey, Patrick; Raymond, F. Lucy; Gottlob, Irene

    2008-01-01

    Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene "FRMD7" (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye…

  10. Delayed-onset of multiple cutaneous infantile hemangiomas due to propranolol: a case report.

    PubMed

    Porcel Chacón, Rocío; del Boz González, Javier; Navarro Morón, Juan

    2015-04-01

    Infantile hemangiomas are the most common vascular tumors in childhood. In view of its proven effectiveness in such cases, propranolol is the drug of choice. We present the case of a male infant who started treatment with propranolol shortly after birth due to heart disease. After 7 months, when the patient had suffered various respiratory exacerbations, this treatment was suspended. One week later, multiple skin lesions (ie, multifocal infantile hemangiomas) began to appear, with no extracutaneous involvement. It was decided to resume treatment with propranolol, although at lower doses than before, and the skin lesions improved rapidly, with some disappearing completely. Treatment was definitively withdrawn at age 16 months, with only slight recurrence of the lesions. The case described is of multifocal infantile hemangiomas without extracutaneous involvement appearing beyond the neonatal period after treatment with propranolol beginning in the first days of life. The details of the case support the hypothesis that this drug is not only therapeutic but also plays a prophylactic role against infantile hemangiomas. In turn, this supports the recent proposal that this drug may be useful in preventing the growth and spread of tumors with high angiogenic potential. It is postulated that the inhibition of β-adrenergic receptors is associated with multiple intracellular processes related to the progression and metastasis of different tumors.

  11. Infantile Amnesia across the Years: A 2-Year Follow-Up of Children's Earliest Memories

    ERIC Educational Resources Information Center

    Peterson, Carole; Warren, Kelly L.; Short, Megan M.

    2011-01-01

    Although infantile amnesia has been investigated for many years in adults, only recently has it been investigated in children. This study was a 2-year follow-up and extension of an earlier study. Children (4-13 years old) were asked initially and 2 years later for their earliest 3 memories. At follow-up, their age at the time of these memories…

  12. On Human Symbiosis and the Vicissitudes of Individuation. Infantile Psychosis, Volume 1.

    ERIC Educational Resources Information Center

    Mahler, Margaret S.

    The concepts of symbiosis and separation-individuation are explained, and the symbiosis theory of infantile psychosis is presented. Diagnostic considerations and clinical cases of child psychosis are reviewed; prototypes of mother-child interaction are described; and therapy is discussed. A summary of the symbiosis theory and a bibliography of…

  13. De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

    PubMed Central

    Saitsu, Hirotomo; Akita, Tenpei; Tohyama, Jun; Goldberg-Stern, Hadassa; Kobayashi, Yu; Cohen, Roni; Kato, Mitsuhiro; Ohba, Chihiro; Miyatake, Satoko; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Fukuda, Atsuo; Matsumoto, Naomichi

    2015-01-01

    The voltage-gated Kv2.1 potassium channel encoded by KCNB1 produces the major delayed rectifier potassium current in pyramidal neurons. Recently, de novo heterozygous missense KCNB1 mutations have been identified in three patients with epileptic encephalopathy and a patient with neurodevelopmental disorder. However, the frequency of KCNB1 mutations in infantile epileptic patients and their effects on neuronal activity are yet unknown. We searched whole exome sequencing data of a total of 437 patients with infantile epilepsy, and found novel de novo heterozygous missense KCNB1 mutations in two patients showing psychomotor developmental delay and severe infantile generalized seizures with high-amplitude spike-and-wave electroencephalogram discharges. The mutation located in the channel voltage sensor (p.R306C) disrupted sensitivity and cooperativity of the sensor, while the mutation in the channel pore domain (p.G401R) selectively abolished endogenous Kv2 currents in transfected pyramidal neurons, indicating a dominant-negative effect. Both mutants inhibited repetitive neuronal firing through preventing production of deep interspike voltages. Thus KCNB1 mutations can be a rare genetic cause of infantile epilepsy, and insufficient firing of pyramidal neurons would disturb both development and stability of neuronal circuits, leading to the disease phenotypes. PMID:26477325

  14. Epidemiology of Infantile Autism in Southern Ibaraki, Japan: Differences in Prevalence in Birth Cohorts.

    ERIC Educational Resources Information Center

    Tanoue, Yoko; And Others

    1988-01-01

    Based on an observational study of children (ages 3-7) screened at a child guidance center in Japan, the prevalence rate of infantile autism in each one-year birth cohort (1972-1978) fluctuated in a four-year cycle which was closely correlated with the number of children hospitalized with lower respiratory tract diseases. (JW)

  15. Use of propranolol in infantile haemangiomas: report of five cases and review of the literature

    PubMed Central

    Gidaris, D; Economou, M; Hatzidemetriou, V; Gombakis, N; Athanassiou - Metaxa, M

    2011-01-01

    Infantile haemangiomas are common benign tumours that do not require treatment unless they cause significant functional impairment or disfigurement. We report our experience with the off-label use of propranolol in 5 children with haemangiomas and review the relevant literature. PMID:21607042

  16. Instantánea de los cánceres infantiles

    Cancer.gov

    Información sobre la incidencia y mortalidad del cáncer en los niños, tendencias en el financiamiento del NCI para la investigación del cáncer infantil; así como ejemplos de actividades y adelantos en la investigación relevantes para esta población.

  17. Cultural Changes and Psychopathology in Children: With Special Reference to Infantile Autism. Draft.

    ERIC Educational Resources Information Center

    Sanua, Victor D.

    The paper analyzes research regarding the effects of sociocultural factors and the incidence of mental illness, particularly infantile autism and childhood schizophrenia. Among those topics reviewed are general sociocultural changes and vital statistics, perceptual and cognitive potential of the neonate, the importance of family networks for…

  18. CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).

    PubMed

    Kohlschütter, Alfried; Schulz, Angela

    2016-06-01

    CLN2 disease is an inherited metabolic storage disorder caused by the deficiency of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1). The disease affects mainly the brain and the retina and is characterized by progressive dysfunction of the central nervous system, leading to dementia, epilepsy, loss of motor function and blindness. The classical late infantile type begins at around three years of age with epilepsy and/or a standstill of psychomotor development, followed by a rapid loss of all abilities and death in childhood. A late onset form in a small proportion of patients starts at the age of 4 to 10 years, but also leads to severe neurological deterioration. The deficiency of TPP1 causes the lysosomal accumulation of a material called ceroid lipofuscin. The natural substrate of TPP1 is not known, nor is the connection between storage process and neurodegeneration, which is characterized by loss of neurons. Among various experimental approaches to treatment, enzyme replacement therapy (ERT) and gene therapy have developed remarkably. Enzyme delivery through the cerebrospinal fluid led to wide distribution of enzyme activity in the brain and to attenuated neuropathology and disease progression in a TPP1-deficient mouse model as well as in a natural TPP1-deficient dog model. Safety of the intrathecal delivery, pharmacokinetics, and tissue distribution of the administered enzyme studied in non-human primates were encouraging, and a phase I/II clinical trial for intraventricular ERT in CLN2 patients is ongoing. A second approach uses intracerebral injection of viral vectors containing normal coding segments of the CLN2 gene. In a CLN2 mouse model, this procedure resulted in cerebral enzyme expression, reduced brain pathology and increased survival. A small number of patients have been treated the same way using an AAV2-vector for gene transfer to the brain. Although there were no serious adverse events unequivocally attributable to the vector used, there were

  19. Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins.

    PubMed

    Wanders, R J; Schutgens, R B; Schrakamp, G; van den Bosch, H; Tager, J M; Schram, A W; Hashimoto, T; Poll-Thé, B T; Saudubrau, J M

    1986-08-01

    In recent years a number of biochemical abnormalities have been described in patients with the infantile form of Refsum disease, including the accumulation of very long chain fatty acids, trihydroxycoprostanoic acid and pipecolic acid. In this paper we show that catalase-containing particles (peroxisomes), alkyl dihydroxyacetone phosphate synthase and acyl-CoA oxidase protein are deficient in patients with infantile Refsum disease. These findings suggest that in the infantile form of Refsum disease, as in the cerebro-hepato-renal (Zellweger) syndrome the multiplicity of biochemical abnormalities is due to a deficiency of peroxisomes and hence to a generalized loss of peroxisomal functions. As a consequence the infantile form of Refsum disease can be diagnosed biochemically by methods already available for the prenatal and postnatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome.

  20. El uso de la neuromodulación para el tratamiento del temblor

    PubMed Central

    Bendersky, Damián; Ajler, Pablo; Yampolsky, Claudio

    2014-01-01

    Introducción: El temblor puede ser un desorden incapacitante y el tratamiento de primera línea para estos pacientes es farmacológico. Sin embargo, este tratamiento puede llevar a una reducción satisfactoria del temblor en sólo el 50% de los pacientes con temblor esencial. La talamotomía era el tratamiento de elección para el temblor refractario al tratamiento médico hasta que comenzó a utilizarse la estimulación cerebral profunda (ECP) del núcleo ventral intermedio (Vim) del tálamo. En la actualidad, raramente se realiza la talamotomía. Métodos: Este artículo es una revisión no sistemática de las indicaciones, resultados, parámetros de programación y técnica quirúrgica de la ECP del Vim para el tratamiento del temblor. Resultados: Aunque los resultados clínicos son similares usando la talamotomía o la ECP del Vim, la primera causa más efectos adversos que la última. Además, la ECP puede ser usada bilateralmente, mientras que la talamotomía tiene un alto riesgo de causar disartria cuando se realiza de ambos lados. La ECP del Vim logró una adecuada mejoría del temblor en varias series de pacientes con temblor causado por temblor esencial, enfermedad de Parkinson o esclerosis múltiple. Además del Vim, hay otros blancos que están siendo usados por varios autores, tales como la zona incerta y las radiaciones prelemniscales. Conclusión: La ECP del Vim es un tratamiento útil para el temblor incapacitante refractario al tratamiento médico. Es esencial realizar una precisa selección de pacientes, así como utilizar una técnica quirúrgica correcta. Aún se desconoce el mejor blanco estereotáctico para el temblor, aunque el Vim es el más usado. PMID:25165613

  1. Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation

    PubMed Central

    Beker-Acay, Mehtap; Elmas, Muhsin; Koken, Resit; Unlu, Ebru; Bukulmez, Aysegul

    2016-01-01

    Summary Background Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and infections in infantiles. Case Report This report presents a 22-month-old girl with infantile type Sandhoff disease that was hospitalized for generalized seizures and psychomotor retardation. She was diagnosed with a genetically proven novel mutation and by demonstrating it’s specific imaging findings. Conclusions Determination of spesific changes in neuroimaging which are initial findings for GM2 gangliosidosis is important from the point of diagnosis and follow-up in infants suspected of having a neurodegenerative disease. PMID:26985245

  2. CD34-positive infantile myofibromatosis: Case report and review of hemangiopericytoma-like pattern tumors.

    PubMed

    Kiyohara, Takahiro; Maruta, Naoki; Iino, Shiro; Ido, Hideki; Tokuriki, Atsushi; Hasegawa, Minoru

    2016-09-01

    We describe a case of CD34-positive infantile myofibromatosis with hemangiopericytoma-like pattern. A 2-day-old Japanese boy presented with multiple hemispherical nodules on the extremities and back. There was a biphasic histological growth in the dermis, accompanied by a hemangiopericytoma-like pattern with antler-like branching vessels. Tumor cells were oval to spindle-shaped myoid cells with bland appearance. Immunohistochemically, vimentin, calponin and CD34 were positive, while α-smooth muscle actin, h-caldesmon, HHF35 and desmin were negative. Although CD34 was positive, the present case could be diagnosed as infantile myofibromatosis. Myopericytoma, myofibroma/myofibromatosis, glomus tumor, glomangiopericytoma and angioleiomyoma share a continuous spectrum of benign hemangiopericytoma-like pattern tumors. Myofibroma/myofibromatosis is nearly included in myopericytoma among pericytic (perivascular) tumors, and could be positive for CD34. Several immunohistochemical panels of smooth muscle markers are needed for the diagnosis of pericytic (perivascular) tumors.

  3. Infantile spinal muscular atrophy (morbus Werdnig-Hoffmann) causing neonatal asphyxia.

    PubMed

    Kyllerman, M

    1977-02-01

    A case of infantile spinal muscular atrophy (Werdnig-Hoffmann's disease) with complete proximal pareses obvious at birth giving rise to neonatal asphyxia is reported. Reduction of fetal movements was noted from the 32nd week of pregnancy. The infant was extremely floppy at birth and spontaneous movements were restricted to hands, feet and face. Fibrillations of the tongue, diaphragmatic hemiparesis and dysphagia were observed. Unassisted ventilation was not compatible with survival and the infant succumbed to the disease in the neonatal period. Muscle biopsy and autopsy confirmed the clinical diagnosis. Infantile spinal muscular atrophy causing neonatal asphyxia seems to be unusual and not earlier described. Constant muscular hypotonus in an asphyctic newborn should raise suspicion of a neuromuscular disorder.

  4. [The maternal effect in infantile autism: elevated DNA damage degree in patients and their mothers].

    PubMed

    Porokhovnik, L N; Kostyuk, S V; Ershova, E S; Stukalov, S M; Veiko, N N; Korovina, N Yu; Gorbachevskaya, N L; Sorokin, A B; Lyapunova, N A

    2016-05-01

    Infantile autism is a common disorder of mental development, which is characterized by impairments in the communicative, cognitive and speech spheres and obsessional stereotyped behaviour. Although in most cases, pathogenic factors remain unclear, infantile autism has a significant hereditary component, however, its etiology is also under the influence of environmental factors, including the condition of the mother's body during pregnancy ("maternal effect"). Oxidative stress is assumed to play a key role in the pathogenesis of infantile autism. It is known that oxidative stress has a prominent genotoxic effect, which is realized through inducing single and double strand breaks of the nuclear DNA. We evaluated the degree of DNA damage in patients with infantile autism and their mothers using DNA comet assay. The comet tail moment and DNA per cent ratio in the tail were assessed for each individual. The two parameters appeared to be strongly correlated (r=0.90). Mean and median values of both parameters were considerably higher in the sample of autistic children, than in age-matching healthy controls. Interestingly, these parameters were also elevated in healthy mothers of autistic children, with no difference from the values in the group of autistic children. The control group of healthy women of reproductive age, who had no children with autism, differed by the DNA comet tail moment from the group of mothers of autistic children, but did not differ significantly from the control group of healthy children. The results suggest that there are genotoxic factors in mentally healthy mothers of autistic children, which can determine the pathological process in the foeti via environmental "maternal effect" during gestation. PMID:27563002

  5. Topical timolol maleate 0.5% solution for the management of deep periocular infantile hemangiomas.

    PubMed

    Painter, Sally L; Hildebrand, Göran Darius

    2016-04-01

    This retrospective, consecutive, clinical case series examined the use of topical timolol in the treatment of 5 children with deep, periocular infantile hemangiomas that caused astigmatism, change in head posture, or ptosis. All patients were treated with timolol maleate solution 0.5% twice daily until the lesions had regressed. All 5 children showed regression of the lesion and improvement in amblyogenic risk factors within 2 weeks.

  6. Propranolol therapy for infantile hemangioma is less toxic but longer in duration than corticosteroid therapy

    PubMed Central

    Sawa, Kathryn; Yazdani, Arjang; Rieder, Michael J; Filler, Guido

    2014-01-01

    BACKGROUND: Infantile hemangioma is the most common benign, self-limiting tumour of childhood. Treatment is reserved for hemangiomas that obstruct vital structures or cause significant disfigurement. Traditionally, corticosteroids have been the medical treatment of choice. Since 2008, however, propranolol has been rapidly adopted as an effective pharmacological treatment for infantile hemangioma. Published data regarding the long-term side effects of propranolol are currently lacking. OBJECTIVE: To describe the long-term effects of propranolol and corticosteroids on anthropometric measurements (height, body mass index [BMI]) and blood pressure in children. METHODS: A prospective database analysis of all infantile hemangioma patient visits to the pediatric vascular abnormality clinic at the authors’ institution between October 2007 and February 2012 was performed. Anthropometric measures (height and BMI) and blood pressure were analyzed. RESULTS: A total of 290 visits (119 patients) to the pediatric vascular abnormality clinic were reviewed. Of these, 18 patients received medical treatment and their anthropometry was analyzed. BMI percentile increased significantly in patients treated with corticosteroids (P=0.0039). Corticosteroid treatment also resulted in a significant decrease in height percentile (P=0.0078). Anthropometric measures did not cross percentiles in children treated with propranolol. A significant decrease in systolic blood pressure was noted in the propranolol group (P=0.03), but no hypotensive values were recorded. Median treatment duration was significantly longer when patients received propranolol (372 versus 133 days; P=0.0033). CONCLUSION: Propranolol for the treatment of infantile vascular abnormalities does not share the unfavourable effects on patient anthropometry that corticosteroids exhibit; however, a longer duration of therapy is required. PMID:25535459

  7. Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013.

    PubMed

    Pavone, Piero; Striano, Pasquale; Falsaperla, Raffaele; Pavone, Lorenzo; Ruggieri, Martino

    2014-10-01

    The current spectrum of disorders associated to clinical spasms with onset in infancy is wider than previously thought; accordingly, its terminology has changed. Nowadays, the term Infantile spasms syndrome (ISs) defines an epileptic syndrome occurring in children younger than 1 year (rarely older than 2 years), with clinical (epileptic: i.e., associated to an epileptiform EEG) spasms usually occurring in clusters whose most characteristic EEG finding is hypsarrhythmia [the spasms are often associated with developmental arrest or regression]. The term West syndrome (WS) refers to a form (a subset) of ISs, characterised by the combination of clustered spasms and hypsarrhythmia on an EEG and delayed brain development or regression [currently, it is no longer required that delayed development occur before the onset of spasms]. Less usually, spasms may occur singly rather than in clusters [infantile spasms single-spasm variant (ISSV)], hypsarrhythmia can be (incidentally) recorded without any evidence of clinical spasms [hypsarrhythmia without infantile spasms (HWIS)] or typical clinical spasms may manifest in absence of hypsarrhythmia [infantile spasms without hypsarrhythmia (ISW)]. There is a growing evidence that ISs and related phenotypes may result, besides from acquired events, from disturbances in key genetic pathways of brain development: specifically, in the gene regulatory network of GABAergic forebrain dorsal-ventral development, and abnormalities in molecules expressed at the synapse. Children with these genetic associations also have phenotypes beyond epilepsy, including dysmorphic features, autism, movement disorders and systemic malformations. The prognosis depends on: (a) the cause, which gives origin to the attacks (the complex malformation forms being more severe); (b) the EEG pattern(s); (c) the appearance of seizures prior to the spasms; and (d) the rapid response to treatment. Currently, the first-line treatment includes the adrenocorticotropic

  8. Benign Nerve Sheath Myxoma in an Infant Misdiagnosed as Infantile Digital Fibromatosis.

    PubMed

    Güngör, Şule; Şişman, Servet; Kocaturk, Emek; Oguz Topal, Ilteris; Yıldırım, Selda

    2016-07-01

    Herein we present the case of a 16-month boy, clinically diagnosed with infantile digital fibromatosis, but 9 months after continued growth, the mass was excised and the histopathologic diagnosis was that of a benign nerve sheath myxoma. We present this case to emphasize that nerve sheath myxomas (also known as myxoid neurothekeoma) should be included in the differential diagnosis of dermal nodules in infants. PMID:27196676

  9. The early electroclinical manifestations of infantile spasms: A video EEG study

    PubMed Central

    Iype, Mary; Kunju, Puthuvathra Abdul Mohammed; Saradakutty, Geetha; Mohan, Devi; Khan, Shahanaz Ahamed Mohammed

    2016-01-01

    Purpose: Infantile spasms are described as flexor extensor and mixed; but more features of their semiology and ictal electroencephalography (EEG) changes are sparse in the literature. The purpose of the study was to describe the clinical and ictal video-EEG characteristics of consecutive cases with infantile spasms and to try to find an association with the etiology. Materials and Methods: The clinical phenomenology and EEG characteristics on video-EEG were analyzed in 16 babies with infantile spasms. Results: A total of 869 spasms were reviewed. Nine (56.3%) showed focal seizures at least once during the recording and 1 (6.3%) had multifocal myoclonus in addition to the spasms. The duration of the cluster and interval between spasms was totally variable in all patients. Lateralizing phenomena were present in at least some of the spasms in all patients. Unilateral manual automatism in the form of holding the pinna was noted in three patients following the spasm. The ictal EEG activity in the majority (75%) was the slow wave. Four (25%) showed fast generalized spindle-like ictal discharges. Spikes, spike and wave activity, or electrodecremental pattern alone during the ictus was seen in none. On bivariate analysis, no factor noted on the video EEG had association with the etiology. Conclusion: Infantile spasms could be associated with focal and other seizures, has unique, non-uniform and variable semiology from patient to patient. The ictal EEG manifestation in the majority (75%) of our patients was the slow wave transient with 25% showing generalized fast spindle-like activity. PMID:27011629

  10. Cow's milk formula as a cause of infantile colic: a double-blind study.

    PubMed

    Lothe, L; Lindberg, T; Jakobsson, I

    1982-07-01

    The role of cow's milk in infantile colic in formula-fed infants was estimated in a double-blind study. Sixty colicky infants were given a cow's milk-containing formula (Enfamil) and a cow's milk-free formula based on soy (ProSobee). Eleven infants (18%) were free of symptoms while receiving soy formula. Symptoms of 32 infants (53%) were unchanged or worse when they were fed cow's milk formula and soy formula, but symptoms disappeared when they were fed a formula containing hydrolyzed casein (Nutramigen). Symptoms of 17 infants (29%) could not be related to the diet; these infants were permitted to continue on a cow's milk-based formula. A challenge with cow's milk-based formula after one month (at approximately age 3 months) produced symptoms of infantile colic in 22 infants (36%). At age 6 months, a challenge with cow's milk was positive in 11 infants (18%) with epidermal and gastrointestinal symptoms. Eight infants (13%) at 12 months of age and five infants (8%) at 16 months of age were still intolerant to cow's milk. Cow's milk seems to be a major cause of infantile colic in formula-fed infants. A dietary treatment is suggested for moderate or severe forms of the colic. Cow's milk protein intolerance is common later in infancy in these infants.

  11. Use of the modified Atkins diet in infantile spasms refractory to first-line treatment.

    PubMed

    Sharma, Suvasini; Sankhyan, Naveen; Gulati, Sheffali; Agarwala, Anuja

    2012-01-01

    This prospective, open label, uncontrolled study was performed to evaluate the efficacy and tolerability of the modified Atkins diet in children with refractory infantile spasms. Fifteen consecutive children aged six months to three years having daily infantile spasms in clusters with electroencephalographic evidence of hypsarrhythmia despite treatment with hormonal treatment (oral corticosteroids/adrenocorticotrophic hormone) and/or vigabatrin, and at least one additional anti-epileptic drug were enrolled. Children with known or suspected inborn errors of metabolism or systemic illnesses were excluded. Carbohydrate intake was restricted to ten grams/day. Among these 12 boys and three girls (median age-24 months), 13 had symptomatic etiology. After three months of diet, six children were spasm free. The time to spasm freedom after diet initiation ranged from two days to two months. The most frequent adverse effect observed was constipation. The modified Atkins diet was found to be effective and well tolerated in children with refractory infantile spasms (ClinicalTrials.gov identifier: NCT01006811).

  12. [Towards an integrated approach to infantile autism: the superior temporal lobe between neurosciences and psychoanalysis].

    PubMed

    Golse, Bernard; Robel, Laurence

    2009-02-01

    The superior temporal lobe is currently at the focus of intensive research in infantile autism, a psychopathologic disorder apparently representing the severest failure of access to intersubjectivity, i.e. the ability to accept that others exist independently of oneself. Access to intersubjectivity seems to involve the superior temporal lobe, which is the seat of several relevant functions such as face and voice recognition and perception of others' movements, and coordinates the different sensory inputs that identify an object as being "external". The psychoanalytic approach to infantile autism and recent cognitive data are now converging, and intersubjectivity is considered to result from "mantling" or comodalization of sensory inputs from external objects. Recent brain neuroimaging studies point to anatomic and functional abnormalities of the superior temporal lobe in autistic children. Dialogue is therefore possible between these different disciplines, opening the way to an integrated view of infantile autism in which the superior temporal lobe holds a central place--not necessarily as a primary cause of autism but rather as an intermediary or a reflection of autistic functioning

  13. WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease

    PubMed Central

    Vodopiutz, Julia; Seidl, Rainer; Prayer, Daniela; Khan, M. Imran; Mayr, Johannes A.; Streubel, Berthold; Steiß, Jens-Oliver; Hahn, Andreas; Csaicsich, Dagmar; Castro, Christel; Assoum, Mirna; Müller, Thomas; Wieczorek, Dagmar; Mancini, Grazia M. S.; Sadowski, Carolin E.; Levy, Nicolas; Mégarbané, André; Godbole, Koumudi; Schanze, Denny; Hildebrandt, Friedhelm; Delague, Valérie; Janecke, Andreas R.; Zenker, Martin

    2015-01-01

    Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. Very recently, WDR73 deficiency was identified as the cause of GMS in five individuals. To evaluate the role of WDR73 mutations as a cause of GMS and other forms of syndromic CA, we performed Sanger or exome sequencing in 51 unrelated patients with CA and variable brain anomalies and in 40 unrelated patients with a diagnosis of GMS. We identified 10 patients from three CA and from two GMS families with WDR73 mutations including the original family described with CA, mental retardation, optic atrophy and skin abnormalities (CAMOS). There were five novel mutations, of which two were truncating and three were missense mutations affecting highly conserved residues. Individuals carrying homozygous WDR73 mutations mainly presented with a pattern of neurological and neuroimaging findings as well as intellectual disability, while kidney involvement was variable. We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration. PMID:26123727

  14. Vigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment.

    PubMed

    Hatori, Takayuki; Sugiyama, Yohei; Yamashita, Shinichiro; Hirakubo, Yuka; Nonaka, Kazuhito; Ichihashi, Ko

    2016-01-01

    In a patient with cardiofaciocutaneous syndrome complicated by intractable infantile spasms (West syndrome), cardiac hypertrophy developed during adrenocorticotropic hormone treatment. Various types of antiepileptic drugs, intravenous immunoglobulin, thyrotropin releasing hormone, and a ketogenic diet were ineffective in this case. However, vigabatrin both decreased clinical seizures and improved electroencephalogram findings. Although vigabatrin has not been approved for use in Japan, the results in the present case suggest that this drug should be considered as an alternative therapy for cases of infantile spasms associated with syndromes involving cardiomyopathy or its potential risk factors, such as cardiofaciocutaneous syndrome. PMID:27680485

  15. Surgical Results of Symmetric and Asymmetric Surgeries and Dose-Response in Patients with Infantile Esotropia

    PubMed Central

    Yurdakul, Nazife Sefi; Bodur, Seda; Koç, Feray

    2015-01-01

    Objectives: To evaluate the results of symmetric and asymmetric surgery and responses to surgical amounts in patients with infantile esotropia. Materials and Methods: The records of patients with infantile esotropia who underwent bilateral medial rectus recession (symmetric surgery) and unilateral medial rectus recession with lateral rectus resection (asymmetric surgery) were analyzed. The results of the cases with symmetric (group 1) and asymmetric (group 2), successful (group 3) and failed (group 4) surgeries were compared, and responses to the amount of surgery were investigated. Results: There were no significant differences between group 1 (n=71) and group 2 (n=13) cases in terms of gender, refraction, preoperative distance deviation, anisometropia and postoperative deviation angles, binocular vision, surgical success or follow-up period (p>0.05). The rate of amblyopia, near deviation and amount of surgery were higher in group 2 cases (p<0.05). Between group 3 (n=64) and group 4 subjects (n=20), no significant differences were detected in terms of gender, surgical age, refraction, amblyopia, anisometropia, preoperative deviation angles, the number of symmetric and asymmetric surgeries, the amount of surgery, or postoperative binocular vision (p>0.05). The average postoperative follow-up period was 15.41±19.93 months (range, 6-98 months) in group 3 cases and 40.45±40.06 months (range, 6-143 months) in group 4 cases (p=0.000). No significant difference was detected in the amount of deviation corrected per 1 mm of surgical procedure between the successful cases in the symmetric and asymmetric groups (p>0.05). Conclusion: Symmetric or asymmetric surgery may be preferable in patients with infantile esotropia according to the clinical features. It is necessary for every clinic to review its own dose-response results. PMID:27800232

  16. Adrenal Function Testing Following Hormone Therapy for Infantile Spasms: Case Series and Review of Literature

    PubMed Central

    Mytinger, John R.; Bowden, Sasigarn A.

    2015-01-01

    Prednisolone and adrenocorticotropic hormone (ACTH) are “hormone” therapies for infantile spasms. There is limited data on the occurrence of decreased adrenal reserve or signs of clinical adrenal insufficiency after hormone therapy. This is a retrospective medical record review of patients referred to our Infantile Spasms Program. Our standardized infantile spasms management guideline began in September 2012 and initially included a post-hormone laboratory assessment of adrenal function. Medical records were assessed for hormone treatments, adrenal function testing, and signs of adrenal insufficiency. Forty-two patients who received one or both hormone therapies met inclusion criteria. A post-hormone laboratory assessment of adrenal function was done in 14 patients. Of these 14 patients, 2 had an abnormal laboratory assessment of adrenal function, both by adrenal stimulation testing – one after ACTH and one after prednisolone. One patient received hydrocortisone replacement and the other received stress dose hydrocortisone as needed; neither patient developed signs of adrenal insufficiency. Another patient treated with both types of hormone therapy in tandem, who did not have a post-hormone laboratory assessment, developed signs of mild adrenal insufficiency and required replacement hydrocortisone. Our study suggests that adrenal suppression can occur after modern hormone therapy regimens. We found two patients with abnormal adrenal function testing after hormone therapy and another patient with signs adrenal insufficiency. Given the seriousness of adrenal crisis, caregiver education on the signs of adrenal insufficiency is critical. Greater vigilance may be indicated in patients receiving both types of hormone therapy in tandem. Although a routine post-hormone laboratory assessment of adrenal function may not be feasible in all patients, replacement or stress dose hydrocortisone is necessary for all patients with suspected adrenal insufficiency. PMID

  17. [Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation].

    PubMed

    Sudo, Akira; Hayashi, Yukiko; Sano, Hitomi; Kawamura, Nobuaki; Nishino, Ichizo; Nonaka, Ikuya

    2013-11-01

    Severe infantile form of nemaline myopathy is clinically characterized by marked muscle hypotonia and weakness with respiratory and feeding difficulties since infancy. Recently, mutations in the skeletal muscle alpha-actine gene (ACTA1) have been identified in many patients with the nemaline myopathy. We experienced two cases of severe infantile form of nemaline myopathy with ACTA1 mutation (missence heterozygous mutation;c.553C>T, p.R185C) in siblings presenting with different clinical symptoms and courses. The elder brother was a typical "floppy infant" at birth. Because he could not suck and swallow at all, he was fed completely through a nasogastric tube. At 2 months of age, he developed respiratory insufficiency and was placed on a respirator all day. He was diagnosed with having nemaline myopathy from his muscle biopsy, which revealed marked variation in muscle fiber size with large numbers of nemaline bodies on Gomori-trichrome stain. In contrast, the younger brother presented with mild muscular hypotonia and feeding difficulty during the neonatal stage;therefore, he was partly fed through a nasogastric tube. At 2 months of age, he was admitted to our hospital because of respiratory distress, and he required nasal continuous positive airway pressure with oxygen followed by noninvasive positive pressure ventilation intermittently, mainly at night. He was followed at his home by parents with no serious problems;however he unexpectedly died at the age of 15 months. Although most cases of severe infantile form of nemaline myopathy caused by ACTA1 mutations are sporadic and have no family history, we emphasize that clinical symptoms are variable in siblings with the same mutation. PMID:24313005

  18. Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

    PubMed Central

    Götz, Alexandra; Tyynismaa, Henna; Euro, Liliya; Ellonen, Pekka; Hyötyläinen, Tuulia; Ojala, Tiina; Hämäläinen, Riikka H.; Tommiska, Johanna; Raivio, Taneli; Oresic, Matej; Karikoski, Riitta; Tammela, Outi; Simola, Kalle O.J.; Paetau, Anders; Tyni, Tiina; Suomalainen, Anu

    2011-01-01

    Infantile cardiomyopathies are devastating fatal disorders of the neonatal period or the first year of life. Mitochondrial dysfunction is a common cause of this group of diseases, but the underlying gene defects have been characterized in only a minority of cases, because tissue specificity of the manifestation hampers functional cloning and the heterogeneity of causative factors hinders collection of informative family materials. We sequenced the exome of a patient who died at the age of 10 months of hypertrophic mitochondrial cardiomyopathy with combined cardiac respiratory chain complex I and IV deficiency. Rigorous data analysis allowed us to identify a homozygous missense mutation in AARS2, which we showed to encode the mitochondrial alanyl-tRNA synthetase (mtAlaRS). Two siblings from another family, both of whom died perinatally of hypertrophic cardiomyopathy, had the same mutation, compound heterozygous with another missense mutation. Protein structure modeling of mtAlaRS suggested that one of the mutations affected a unique tRNA recognition site in the editing domain, leading to incorrect tRNA aminoacylation, whereas the second mutation severely disturbed the catalytic function, preventing tRNA aminoacylation. We show here that mutations in AARS2 cause perinatal or infantile cardiomyopathy with near-total combined mitochondrial respiratory chain deficiency in the heart. Our results indicate that exome sequencing is a powerful tool for identifying mutations in single patients and allows recognition of the genetic background in single-gene disorders of variable clinical manifestation and tissue-specific disease. Furthermore, we show that mitochondrial disorders extend to prenatal life and are an important cause of early infantile cardiac failure. PMID:21549344

  19. Pediatric oncology at Hospital Infantil de Mexico: fifty-five years of accomplishment.

    PubMed

    Medina-Sanson, A; Martínez-Avalos, A; Gallegos-Castorena, S; Juárez-Villegas, L E; González-Montalvo, P; Perales-Arroyo, A; Gallegos-González, E; Ayometzi-Ouchi, M T

    2002-09-01

    The Department of Oncology at Hospital Infantil de México Federico Gómez (HIMFG) was the first unit in our country, and one of the first in Latin America, to specialize in the management of children with cancer. The HIMFG is part of the National Institutes of Health of Mexico, and is a reference hospital with research, educative, and tertiary care medical function. To date, the HIMFG and the Instituto Nacional de Pediatria are the principal medical centers in which children with cancer receive comprehensive care.

  20. Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.

    PubMed

    Hitomi, Yuki; Heinzen, Erin L; Donatello, Simona; Dahl, Hans-Henrik; Damiano, John A; McMahon, Jacinta M; Berkovic, Samuel F; Scheffer, Ingrid E; Legros, Benjamin; Rai, Myriam; Weckhuysen, Sarah; Suls, Arvid; De Jonghe, Peter; Pandolfo, Massimo; Goldstein, David B; Van Bogaert, Patrick; Depondt, Chantal

    2013-09-01

    We identified a small family with autosomal recessive, infantile onset epilepsy and intellectual disability. Exome sequencing identified a homozygous missense variant in the gene TNK2, encoding a brain-expressed tyrosine kinase. Sequencing of the coding region of TNK2 in 110 patients with a similar phenotype failed to detect further homozygote or compound heterozygote mutations. Pathogenicity of the variant is supported by the results of our functional studies, which demonstrated that the variant abolishes NEDD4 binding to TNK2, preventing its degradation after epidermal growth factor stimulation. Definitive proof of pathogenicity will require confirmation in unrelated patients.

  1. Mutations in TNK2 in severe autosomal recessive infantile-onset epilepsy

    PubMed Central

    Hitomi, Yuki; Heinzen, Erin L.; Donatello, Simona; Dahl, Hans-Henrik; Damiano, John A.; McMahon, Jacinta M.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Legros, Benjamin; Rai, Myriam; Weckhuysen, Sarah; Suls, Arvid; De Jonghe, Peter; Pandolfo, Massimo; Goldstein, David B.; Van Bogaert, Patrick; Depondt, Chantal

    2013-01-01

    We identified a small family with autosomal recessive, infantile-onset epilepsy and intellectual disability. Exome sequencing identified a homozygous missense variant in the gene TNK2, encoding a brain-expressed tyrosine kinase. Sequencing of the coding region of TNK2 in 110 patients with a similar phenotype failed to detect further homozygote or compound heterozygote mutations. Pathogenicity of the variant is supported by the results of our functional studies, which demonstrated that the variant abolishes NEDD4 binding to TNK2, preventing its degradation after epidermal growth factor stimulation. Definitive proof of pathogenicity will require confirmation in unrelated patients. PMID:23686771

  2. AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.

    PubMed

    Armstrong, L; Biancheri, R; Shyr, C; Rossi, A; Sinclair, G; Ross, C J; Tarailo-Graovac, M; Wasserman, W W; van Karnebeek, C D M

    2014-08-01

    We report the second family with AIMP1 deficiency, due to a homozygous truncating AIMP1 (g.107248613 C > T) mutation. This female showed early-onset developmental arrest, intractable epileptic spasms, microcephaly, and a rapid clinical course leading to premature death, associated with cerebral atrophy and myelin deficiency on brain MRI. Clinical and neuroimaging findings are consistent with a primary neuronal degenerative disorder, rather than with the previously reported Perlizaeus-Merzbacher-like phenotype. Given its critical role in neurofilament assembly 16, impaired myelin formation is due to neuronal/axonal dysfunction. We propose that AIMP1 deficiency be added to the differential diagnosis of infantile onset, progressive neurodegenerative disease.

  3. A handheld wireless device for diffuse optical spectroscopic assessment of infantile hemangiomas

    NASA Astrophysics Data System (ADS)

    Fong, Christopher J.; Flexman, Molly; Hoi, Jennifer W.; Geller, Lauren; Garzon, Maria; Kim, Hyun K.; Hielscher, Andreas H.

    2013-03-01

    Infantile hemangiomas (IH) are common vascular growths that occur in 5-10% of neonates and have the potential to cause disfiguring and even life-threatening complications. With no objective tool to monitor IH, a handheld wireless device (HWD) that uses diffuse optical spectroscopy has been developed for use in assessment of IH by measurements in absolute oxygenated and deoxygenated hemoglobin concentration as well as scattering in tissue. Reconstructions of these variables can be computed using a multispectral evolution algorithm. We validated the new system by experimental studies using phantom experiments and a clinical study is under way to assess the utility of DOI for IH.

  4. [Assessment of stress in childhood: Children's Daily Stress Inventory (Inventario Infantil de Estresores Cotidiano, IIEC)].

    PubMed

    Trianes Torres, María Victoria; Blanca Mena, María José; Fernández Baena, Francisco J; Escobar Espejo, Milagros; Maldonado Montero, Enrique F; Muñoz Sánchez, Angela María

    2009-11-01

    The present study introduces the Children's Daily Stress Inventory (Inventario Infantil de Estresores Cotidianos, IIEC) as a measure that assesses daily stress in primary school children. The inventory was applied to a sample of 1094 primary school students. The final version includes 25 dichotomic items covering the areas of health, school/peers, and family. The score is obtained by adding the total of positive answers. Analyses of items, reliability and several external pieces of evidence of validity based on relations with other variables are presented. The results show adequate psychometric properties for the assessment of daily stress in children.

  5. First report of congenital or infantile cataract in deranged proteoglycan metabolism with released xylose

    PubMed Central

    Sulochana, K; Ramakrishnan, S; Vasanthi, S; Madhavan, H; Arunagiri, K; Punitham, R

    1997-01-01

    AIM—To investigate the chemical pathology in the blood and lens, in cases of congenital or infantile cataract in children excreting predominantly non-reducing carbohydrates in urine.
METHODS—Urine samples from children with congenital or infantile cataract, and age and sex-matched controls, were analysed for (i) inherited errors of metabolism, (ii) paper chromatography of sugars, (iii) spectrophotometric assay of glycosaminoglycans (GAG), (iv) cetyl trimethyl ammonium bromide test, (v) electrophoresis using Alcian blue, (vi) ion exchange chromatography with IR 120 resin, and (vii) HPLC for xylose. Blood and lens material were also tested for GAG fragments and xylose. β Glucuronidase was assayed in lymphocytes and urine.
RESULTS—Of 220 children of both sexes below 12 years of age, with congenital or infantile cataract treated in Sankara Nethralaya, Madras, India, during a period of 2 years, 145 excreted fragments of GAG (heparan and chondroitin sulphates) in their urine. There was no such excretion among the control group of 50 children. The same was found accumulated in the blood and lenses of affected children. In addition, xylose was present in small amounts in the urine and blood and xylitol was present in the lens. There was a significant elevation in the activity of β glucuronidase in lymphocytes and urine, when compared with normals. All the above findings suggest deranged proteoglycan metabolism. As the urine contained mostly GAG fragments and very little xylose, Benedict's reagent was not reduced. This ruled out galactosaemia.
CONCLUSION—An increase of β glucuronidase activity might have caused extensive fragmentation of GAG with resultant accumulation in the blood and lens and excretion in urine. Small amounts of xylose may have come from xylose links between GAG and core protein of proteoglycans. Owing to their polyanionic nature, GAG fragments in the lens might abstract sodium, and with it water, thereby increasing the hydration

  6. Visual Outcomes and Complications of Piggyback Intraocular Lens Implantation Compared to Aphakia for Infantile Cataract

    PubMed Central

    Joshaghani, Mahmood; Soleimani, Mohammad; Foroutan, Alireza; Yaseri, Mehdi

    2015-01-01

    Purpose: To evaluate the long-term visual outcomes and complications of the piggyback intraocular lens (IOL) implantation compared to aphakia for infantile cataract. Patients and Methods: In a comparative study from 1998 to 2007, piggyback IOL implantation (piggyback IOL group) was performed for 14 infants (23 eyes) with infantile cataract and 20 infants (32 eyes) who were aphakic (aphakia group) after infantile cataract surgery. Data were collected on logMAR visual acuity, and postoperative complications over a mean follow-up time of 6.2 ± 1.7 years and 5.8 ± 1.7 years. Results: The mean age at surgery was 7.5 ± 0.6 months and 6.0 ± 3.3 months for the piggyback and the aphakic group respectively (P > 0.05). At the last follow-up visit, visual acuity was 0.85 ± 0.73 (median = 0.70, interquartile range = 0.3–1.32) in the piggyback IOL group and 0.89 ± 0.56 (median = 0.86, interquartile range = 0.50–1.24) in the aphakic group (P > 0.05). There was a positive relationship between age and visual outcomes in the aphakic group (r = 0.4, P = 0.04) but not in the piggyback IOL group (P = 0.48). There was no significant difference between the mean myopic shift in the piggyback IOL group (∑5.28 ± 1.06 D) and the aphakic group (∑5.10 ± 1.02 D) (P > 0.05). The incidence of reoperation due to complications in piggyback IOL group was higher than aphakic group (%48 vs. %16, respectively, P ≤ 0.01). However, in patients older than 6 months, this risk was not significantly different compared to the aphakic group. Conclusions: Although piggyback IOL implantation for infantile cataract is optically acceptable as a treatment option, there is no significant difference in visual outcomes compared to aphakia. The incidence in reoperation due to complications in patients aged 6 months or younger is higher than those treated with aphakia. PMID:26692724

  7. A hydrogel-endothelial cell implant mimics infantile hemangioma: modulation by survivin and the Hippo pathway.

    PubMed

    Tsuneki, Masayuki; Hardee, Steven; Michaud, Michael; Morotti, Raffaella; Lavik, Erin; Madri, Joseph A

    2015-07-01

    Microvascular endothelial cells cultured in three-dimensional hydrogel scaffolds form a network of microvessel structures when implanted subcutaneously in mice, inosculate with host vessels, and over time remodel into large ectatic vascular structures resembling hemangiomas. When compared with infantile hemangiomas, similarities were noted, including a temporal progression from a morphological appearance of a proliferative phase to the appearance of an involuted phase, mimicking the proliferative and involutional phases of infantile hemangioma. Consistent with the progression of a proliferative phase to an involuted phase, both the murine implants and human biopsy tissue exhibit reduced expression of Ajuba, YAP, and Survivin labeling as they progressed over time. Significant numbers of CD45+, CD11b+, Mac3+ mononuclear cells were found at the 2-week time point in our implant model that correlated with the presence of CD45+, CD68+ mononuclear cells observed in biopsies of human proliferative-phase hemangiomas. At the 4-week time point in our implant model, only small numbers of CD45+ cells were detected, which again correlated with our findings of significantly diminished CD45+, CD68+ mononuclear cells in human involutional-phase hemangiomas. The demonstration of mononuclear cell infiltration transiently in the proliferative phase of these lesions suggests that the vascular proliferation and/or regression may be driven in part by an immune response. Gross and microscopic morphological appearances of human proliferative and involutional hemangiomas and our implant model correlate well with each other as do the expression levels of Hippo pathway components (Ajuba and YAP) and Survivin and correlate with proliferation in these entities. Inhibitors of Survivin and Ajuba (which we have demonstrated to inhibit proliferation and increase apoptosis in murine hemangioendothelioma cell tissue culture) may have potential as other beneficial treatments for proliferating

  8. [Neuropsychological studies of the gnostic processes in children with various forms of infantile cerebral palsy].

    PubMed

    Mamaĭchuk, I I

    1992-01-01

    Psychometric and neuropsychological studies were carried out in 182 patients with three forms of infantile cerebral paralysis (ICP). Of these, 112 children presented with spastic diplegia, 50 with hemiparetic diplegia, and 20 with hyperkinetic diplegia. The children's age ranged from 8 to 14 years. Depending on the form of ICP, the structural characteristics of intellect were defined as were specific features of the development of higher cortical functions depending on the localization of the underdevelopment of different brain areas. The classification of the structure of the disorders with the aid of the methods used makes it possible to have a differentiated approach to the medical and pedagogical correction of those patients. PMID:1333706

  9. Radiological Changes in Infantile Dissecting Anterior Communicating Artery Aneurysm Treated Endovascularly

    PubMed Central

    Yatomi, Kenji; Oishi, Hidenori; Yamamoto, Munetaka; Suga, Yasuo; Nonaka, Senshu; Yoshida, Kensaku; Arai, Hajime

    2014-01-01

    Summary Intracranial aneurysms are extremely rare in infants, and to our knowledge only seven infants treated for ruptured spontaneous dissecting aneurysms have been reported. Good outcomes have been achieved with endovascular treatment of infantile aneurysm. We the endovascular treatment of a one-month-old girl for ruptured dissecting aneurysm located in the anterior communicating artery, and the unique radiological changes that were observed during the perioperative and follow-up periods. These changes suggest that blood coagulation and fibrinolytic response play a part in the repair and healing processes of dissecting aneurysms. Careful neuroradiological surveys are needed for pediatric dissecting aneurysms treated endovascularly. PMID:25496693

  10. A Hydrogel-Endothelial Cell implant Mimics Infantile Hemangioma: Modulation by Survivin and the Hippo pathway*

    PubMed Central

    Tsuneki, Masayuki; Hardee, Steven; Michaud, Michael; Morotti, Raffaella; Lavik, Erin; Madri, Joseph A.

    2015-01-01

    Microvascular endothelial cells cultured in three-dimensional hydrogel scaffolds form a network of microvessel structures when implanted subcutaneously in mice, inosculate with host vessels and over time remodel into large ectatic vascular structures resembling hemangiomas. When compared to infantile hemaniomas similarities were noted including a temporal progression from a morphological appearance of a proliferative phase to the appearance of an involuted phase mimicking the proliferative and involutional phases of infantile hemangioma. Consistent with the progression of a proliferative phase to an involuted phase, both the murine implants and human biopsy tissue exhibit reduced expression of Ajuba, YAP and Survivin labeling as they progressed over time. Significant numbers of CD45+, CD11b+, Mac3+ mononuclear cells were found at the 2 week time point in our implant model which correlated with the presence of CD45+, CD68+ mononuclear cells observed in biopsies of human proliferative phase hemangiomas. At the 4 week time point in our implant model only small numbers of CD45+ cells were detected, which again correlated with our findings of significantly diminished CD45+, CD68+ mononuclear cells in human involutional phase hemangiomas. The demonstration of mononuclear cell infiltration transiently in the proliferative phase of these lesions suggests that the vascular proliferation and/or regression may be driven in part by an immune response. Gross and microscopic morphological appearances of human proliferative and involutional hemangiomas and our implant model correlate well with each other as do the expression levels of Hippo pathway components (Ajuba and YAP) and Survivin and correlate with proliferation in these entities. Inhibitors of Survivin and Ajuba (which we have demonstrated to inhibit proliferation and increase apoptosis in murine hemangioma cell tissue culture) may have potential as other beneficial treatments for proliferating infantile hemangiomas

  11. The changing profile of infantile tremor syndrome in hilly terrain of India

    PubMed Central

    Singla, Deeksha A.; Sharma, Milap; Sharma, Seema; Sharma, Vipin

    2015-01-01

    Background: Infantile tremor syndrome (ITS) is characterized by anemia, skin pigmentation, tremors, physical, and mental regression without a defined etiopathogenesis and low incidence. Materials and Methods: We have studied 9 patients over 1 year for the changing clinical and laboratory variables of patients with ITS. Neuroregression and anemia were presented in all followed by tremors in 5 and hypotonia in 2. Result: Sepsis screen was positive in 6 and urine cultures in 2. Antibiotics were required in 6. ITS with changing parameters still significantly contributes to healthcare burden. Conclusion: It is important to screen for urinary infection and septicemia to avoid antibiotic abuse. PMID:26752914

  12. Infantile perianal pyramidal protrusion: a case report with dermoscopy and ultrasound findings

    PubMed Central

    Lamberti, Arianna; Filippou, Georgios; Adinolfi, Antonella; Fimiani, Michele; Rubegni, Pietro

    2015-01-01

    Infantile perianal pyramidal protrusion, it is a rare benign cutaneous condition described in relatively recent times. It is considered to be under-reported in the pediatric literature because it is often mistaken for other conditions. The unawareness of this lesion may be responsible for an excessive concern both in physician and in parents, which leads to overly aggressive and unnecessary treatments. Thus its recognition has many implications regarding proper management and treatment. We report a typical presentation of IPPP in which the diagnosis was based on the use of non-invasive diagnostic tools and in particular of dermoscopy and ultrasonography. PMID:26114069

  13. Noninclusion-body infantile digital fibromatosis: a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome.

    PubMed

    Drut, Ricardo; Pedemonte, Luis; Rositto, Alicia

    2005-04-01

    This report describes the histologic and immunohistochemical features of a peculiar type of digital fibroma that shares some clinical and microscopic features with the more common inclusion-body type infantile digital fibromatosis. However, this type does not exhibit inclusion bodies and its cells are reactive for vimentin but not for actin. Significantly, it presents in combination with a constellation of other clinical findings, i.e., mainly positional and bone abnormalities of the fingers and toes, and skin pigmentary defects. Thus, noninclusion-body digital fibromatosis may represent the first clue for the diagnosis of the so-called terminal osseous dysplasia and pigmentary defects syndrome.

  14. Effect of dual-task training on postural stability in children with infantile hemiparesis

    PubMed Central

    Elhinidi, Elbadawi Ibrahim Mohammad; Ismaeel, Marwa Mostafa Ibrahim; El-Saeed, Tamer Mohamed

    2016-01-01

    [Purpose] The aim of this study was to evaluate the influence of using a selected dual-task training program to improve postural stability in infantile hemiparesis. [Subjects and Methods] Thirty patients participated in this study; patients were classified randomly into two equal groups: study and control groups. Both groups received conventional physical therapy treatment including mobility exercises, balance exercises, gait training exercises, and exercises to improve physical conditioning. In addition, the study group received a selected dual-task training program including balance and cognitive activities. The treatment program was conducted thrice per week for six successive weeks. The patients were assessed with the Biodex Balance System. These measures were recorded two times: before the application of the treatment program (pre) and after the end of the treatment program (post). [Results] There was a significant improvement for both groups; the improvement was significantly higher in the study group compared to the control group. [Conclusion] The selected dual-task training program is effective in improving postural stability in patients with infantile hemiparesis when added to the conventional physical therapy program. PMID:27134376

  15. Combination of propranolol and sclerotherapy for treatment of infantile parotid hemangiomas

    PubMed Central

    Ma, Xiaorong; Chang, Mengling; Ouyang, Tianxiang; Xu, Daili; Xu, Miao; Ke, Jingwen; Lin, Jun; Liu, Jun; Yu, Jie; Chen, Huiping

    2015-01-01

    We aimed to evaluate the efficacy of combination of propranolol and sclerotherapy in treating parotid hemangiomas. Twenty-six parotid hemangiomas patients were subjected to combined treatment from January 2009 and June 2014. The effects of the therapy modality were evaluated. Nineteen patients were females and 7 were males. The median age of treatment initiation was 4.96 months. Twelve lesions were located on the left side parotid glands, while thirteen lesions affected the right side. One infant had bilateral lesions. One to six (average 2.04) injections were performed and the mean period for propranolol was 8.94 months. All the patients got satisfied aesthetic outcomes. No complications of propranolol or sclerotherapy occurred during the whole medication period. The study demonstrated that combination of propranolol and sclerotherapy was an effective and safe method for infantile parotid hemangiomas. Larger-scale studies should be performed to further investigate the long-term efficacy and results of the present combined method for infantile parotid hemangiomas. PMID:26379880

  16. History of the infantile hepatic hemangioma: From imaging to generating a differential diagnosis

    PubMed Central

    Gnarra, Maria; Behr, Gerald; Kitajewski, Alison; Wu, June K; Anupindi, Sudha A; Shawber, Carrie J; Zavras, Nick; Schizas, Dimitrios; Salakos, Chris; Economopoulos, Konstantinos P

    2016-01-01

    We aim to provide an up-to-date summary of infantile hepatic hemangioma (IHH) and its misnomers and to dialectically present the differential diagnosis of these rare entities of the liver. Eligible peer-reviewed articles on hepatic infantile hemangiomas, published between 2000 and 2015, were reviewed for this study. IHH is the most common hepatic vascular tumor in children. Once a liver mass is identified in an infant, the differential diagnosis ranges from vascular malformations to benign and malignant tumors including mesenchymal hamartoma, hepatoblastoma, metastatic neuroblastoma, so careful physical examination, imaging studies, and, if indicated, tumor markers and biopsy, are of pivotal importance to ascertain the correct diagnosis. Despite the benign nature of IHHs, some of these lesions may demand medical and/or surgical intervention, especially for multiple and diffuse IHH. Complications can include hepatomegaly, hypothyroidism and cardiac failure. Therefore, a close follow-up is required until complete involution of the lesions. We propose an algorithm to guide the physicians towards the proper management of hepatic lesions. PMID:27610342

  17. Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

    PubMed Central

    Poulton, Cathryn J.; Schot, Rachel; Kia, Sima Kheradmand; Jones, Marta; Verheijen, Frans W.; Venselaar, Hanka; de Wit, Marie-Claire Y.; de Graaff, Esther; Bertoli-Avella, Aida M.; Mancini, Grazia M.S.

    2011-01-01

    We describe a syndrome of primary microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes in two unrelated consanguineous families with at least three affected children. Linkage analysis revealed a region on chromosome 18 with a significant LOD score of 4.3. In this area, two homozygous nonconserved missense mutations in immediate early response 3 interacting protein 1 (IER3IP1) were found in patients from both families. IER3IP1 is highly expressed in the fetal brain cortex and fetal pancreas and is thought to be involved in endoplasmic reticulum stress response. We reported one of these families previously in a paper on Wolcott-Rallison syndrome (WRS). WRS is characterized by increased apoptotic cell death as part of an uncontrolled unfolded protein response. Increased apoptosis has been shown to be a cause of microcephaly in animal models. An autopsy specimen from one patient showed increased apoptosis in the cerebral cortex and pancreas beta cells, implicating premature cell death as the pathogenetic mechanism. Both patient fibroblasts and control fibroblasts treated with siRNA specific for IER3IP1 showed an increased susceptibility to apoptotic cell death under stress conditions in comparison to controls. This directly implicates IER3IP1 in the regulation of cell survival. Identification of IER3IP1 mutations sheds light on the mechanisms of brain development and on the pathogenesis of infantile epilepsy and early-onset permanent diabetes. PMID:21835305

  18. Early-infantile galactosialidosis: Clinical, biochemical, and molecular observations in a new patient

    SciTech Connect

    Zammarchi, E.; Donati, M.A.; Morrone, A.

    1996-08-23

    Few patients with the early-infantile form of galactosialidosis have been described to date. Presented here is the first Italian case. Fetal hydrops was detected by ultrasound at week 24 of gestation. At birth, the infant presented with hypotonial, massive edema, a flattened coarse facies. telangiectasias, and hepatosplenomegaly, but no dysostosis multiplex. The patient died 72 days postpartum. Excessive sialyloligosaccharides in urine, as well as vacuolation of lymphocytes and eosinophilic granulocytes in peripheral blood, were indicative of a lysosomal storage disease. In the patient`s fibroblasts, both {alpha}-neuraminidase and {beta}-galactosidase activities were severely reduced, and cathepsin A activity was <1% of control levels, confirming the biochemical diagnosis of galactosialidosis. However, in contrast to previously reported early-infantile cases, a normal amount of protective protein/cathepsin A mRNA was detected on Northern blots. This mutant transcript was translated into a precursor protein that was not processed into the mature enzyme and lacked both protective and catalytic activities. 28 refs., 4 figs., 1 tab.

  19. History of the infantile hepatic hemangioma: From imaging to generating a differential diagnosis

    PubMed Central

    Gnarra, Maria; Behr, Gerald; Kitajewski, Alison; Wu, June K; Anupindi, Sudha A; Shawber, Carrie J; Zavras, Nick; Schizas, Dimitrios; Salakos, Chris; Economopoulos, Konstantinos P

    2016-01-01

    We aim to provide an up-to-date summary of infantile hepatic hemangioma (IHH) and its misnomers and to dialectically present the differential diagnosis of these rare entities of the liver. Eligible peer-reviewed articles on hepatic infantile hemangiomas, published between 2000 and 2015, were reviewed for this study. IHH is the most common hepatic vascular tumor in children. Once a liver mass is identified in an infant, the differential diagnosis ranges from vascular malformations to benign and malignant tumors including mesenchymal hamartoma, hepatoblastoma, metastatic neuroblastoma, so careful physical examination, imaging studies, and, if indicated, tumor markers and biopsy, are of pivotal importance to ascertain the correct diagnosis. Despite the benign nature of IHHs, some of these lesions may demand medical and/or surgical intervention, especially for multiple and diffuse IHH. Complications can include hepatomegaly, hypothyroidism and cardiac failure. Therefore, a close follow-up is required until complete involution of the lesions. We propose an algorithm to guide the physicians towards the proper management of hepatic lesions.

  20. Comprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers.

    PubMed

    Dearborn, Joshua T; Harmon, Steven K; Fowler, Stephen C; O'Malley, Karen L; Taylor, George T; Sands, Mark S; Wozniak, David F

    2015-01-01

    Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is a neurodegenerative lysosomal storage disease caused by a deficiency in palmitoyl protein thioesterase-1 (PPT1). The PPT1-deficient mouse (Cln1(-/-)) is a useful phenocopy of human INCL. Cln1(-/-) mice display retinal dysfunction, seizures, motor deficits, and die at ~8 months of age. However, little is known about the cognitive and behavioral functions of Cln1(-/-) mice during disease progression. In the present study, younger (~1-2 months of age) Cln1(-/-) mice showed minor deficits in motor/sensorimotor functions while older (~5-6 months of age) Cln1(-/-) mice exhibited more severe impairments, including decreased locomotor activity, inferior cued water maze performance, decreased running wheel ability, and altered auditory cue conditioning. Unexpectedly, certain cognitive functions such as some learning and memory capabilities seemed intact in older Cln1(-/-) mice. Younger and older Cln1(-/-) mice presented with walking initiation defects, gait abnormalities, and slowed movements, which are analogous to some symptoms reported in INCL and parkinsonism. However, there was no evidence of alterations in dopaminergic markers in Cln1(-/-) mice. Results from this study demonstrate quantifiable changes in behavioral functions during progression of murine INCL and suggest that Parkinson-like motor/sensorimotor deficits in Cln1(-/-) mice are not mediated by dopamine deficiency. PMID:26238334

  1. Autologous Cord Blood Therapy for Infantile Cerebral Palsy: From Bench to Bedside

    PubMed Central

    Jensen, A.

    2014-01-01

    About 17 million people worldwide live with cerebral palsy, the most common disability in childhood, with hypoxic-ischemic encephalopathy, preterm birth, and low birth weight being the most important risk factors. This review will focus on recent developments in cell therapy for infantile cerebral palsy by transplantation of autologous umbilical cord blood. There are only 4 publications available at present; however, the observations made along with experimental data in vivo and in vitro may be of utmost importance clinically, so that a review at an early developmental stage of this new therapeutic concept seems justified. Particularly, since the first published double-blind randomized placebo-controlled trial in a paradigm using allogeneic cord blood and erythropoietin to treat cerebral palsy under immunosuppression showed beneficial therapeutic effects in infantile cerebral palsy, long-held doubts about the efficacy of this new cell therapy are dispelled and a revision of therapeutic views upon an ailment, for which there is no cure at present, is warranted. Hence, this review will summarize the available information on autologous cord blood therapy for cerebral palsy and that on the relevant experimental work as far as potential mechanisms and modes of action are concerned. PMID:24695413

  2. History of the infantile hepatic hemangioma: From imaging to generating a differential diagnosis.

    PubMed

    Gnarra, Maria; Behr, Gerald; Kitajewski, Alison; Wu, June K; Anupindi, Sudha A; Shawber, Carrie J; Zavras, Nick; Schizas, Dimitrios; Salakos, Chris; Economopoulos, Konstantinos P

    2016-08-01

    We aim to provide an up-to-date summary of infantile hepatic hemangioma (IHH) and its misnomers and to dialectically present the differential diagnosis of these rare entities of the liver. Eligible peer-reviewed articles on hepatic infantile hemangiomas, published between 2000 and 2015, were reviewed for this study. IHH is the most common hepatic vascular tumor in children. Once a liver mass is identified in an infant, the differential diagnosis ranges from vascular malformations to benign and malignant tumors including mesenchymal hamartoma, hepatoblastoma, metastatic neuroblastoma, so careful physical examination, imaging studies, and, if indicated, tumor markers and biopsy, are of pivotal importance to ascertain the correct diagnosis. Despite the benign nature of IHHs, some of these lesions may demand medical and/or surgical intervention, especially for multiple and diffuse IHH. Complications can include hepatomegaly, hypothyroidism and cardiac failure. Therefore, a close follow-up is required until complete involution of the lesions. We propose an algorithm to guide the physicians towards the proper management of hepatic lesions. PMID:27610342

  3. GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

    PubMed

    Papandreou, Apostolos; McTague, Amy; Trump, Natalie; Ambegaonkar, Gautam; Ngoh, Adeline; Meyer, Esther; Scott, Richard H; Kurian, Manju A

    2016-04-01

    The gamma-aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3-subunit of the gamma-aminobutyric acid type A (GABAA ) receptor, which mediates inhibitory signalling within the central nervous system. Recently, GABRB3 mutations have been identified in a few patients with infantile spasms and Lennox-Gastaut syndrome. We report the clinical and electrographic features of a novel case of GABRB3-related early-onset epileptic encephalopathy. Our patient presented with neonatal hypotonia and feeding difficulties, then developed pharmacoresistant epileptic encephalopathy, characterized by multiple seizure types from 3 months of age. Electroencephalography demonstrated ictal generalized and interictal multifocal epileptiform abnormalities. Using a SureSelectXT custom multiple gene panel covering 48 early infantile epileptic encephalopathy/developmental delay genes, a novel de novo GABRB3 heterozygous missense mutation, c.860C>T (p.Thr287Ile), was identified and confirmed on Sanger sequencing. GABRB3 is an emerging cause of early-onset epilepsy. Novel genetic technologies, such as whole-exome/genome sequencing and multiple gene panels, will undoubtedly identify further cases, allowing more detailed electroclinical delineation of the GABRB3-related genotypic and phenotypic spectra.

  4. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Idiopathic infantile hypercalcemia (IIH) is a disorder the genetic etiology and physiological basis of which are not well understood. The objective of the study was to describe the underlying physiology and genetic cause of hypercalcemia in an infant with severe IIH and to extend these genetic findi...

  5. A Transnational Survey of Mental Health Professionals in the United States and Europe on the Etiology of Infantile Autism.

    ERIC Educational Resources Information Center

    Sanua, Victor D.

    The paper first reviews previous studies made of the causes of schizophrenia as seen by mental health professionals in Western countries and in the Third World. The study at hand focuses on infantile autism and how it is viewed by professionals in the United States and Europe. Questionnaires addressed issues, characteristics and etiology,…

  6. Fractures in Individuals with and without a History of Infantile Autism. A Danish Register Study Based on Hospital Discharge Diagnoses

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2012-01-01

    We compared the prevalence and types of fractures in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with 336 matched controls from the general population. All participants were screened through the nationwide Danish National Hospital Register. The average observation time was 30.3 years (range 27.3-30.4…

  7. Comparing the effects of Bentonite & Calendula on the improvement of infantile diaper dermatitis: A randomized controlled trial

    PubMed Central

    Mahmoudi, Mansoreh; Adib-Hajbaghery, Mohsen; Mashaiekhi, Mahdi

    2015-01-01

    Background & objectives: Infantile diaper dermatitis is a common, acute inflammatory reaction of the skin around diaper among infants. This study was undertaken to compare the effect of topical application of Bentonite and Calendula creams on the improvement of infantile diaper dermatitis. Methods: This double blind randomized controlled trial was undertaken on 100 patients of infantile diaper dermatitis. The 100 participants were randomly assigned into two groups of 50 each, and were prescribed the coded medicine. The mothers were trained to apply the cream and level of improvement was judged by observing the affected area on the first visit and then after three days of receiving treatment. Results: The mean age of infants was 6.45±5.53 months in Calendula group and 7.35±6.28 months in Bentonite group. Overall, 88 per cent of lesions in the Bentonite group started improving in the first six hours while this rate was 54 per cent in Calendula group (P<0.001). The risk ratio for the improvement in the first six hours was 2.99 folds in the Bentonite group. Also, lesions in 86 per cent infants in the Bentonite group and 52 per cent in the Calendula group were completely improved in the first three days after treatment (P<0.001). Interpretation & conclusions: Our results showed that in comparison with Calendula, Bentonite had faster healing effect and was more effective on the improvement of infantile diaper dermatitis (IRCT ID: IRCT 2012112811593N1). PMID:26831423

  8. [Development of righting reflexes and their influence on the development of static functions in children with infantile cerebral palsy].

    PubMed

    Wojewska-Wójcik, B

    1975-01-01

    In a group of 55 children with signs of central nervous system lesions the development of righting reflexes and static functions was observed during the first 3 years of life. A delay and disturbances in the development of righting reflexes and static functions was observed with differences between the individual groups of infantile cerebral palsy. PMID:1202398

  9. Epilepsy and Other Neurological Diseases in the Parents of Children with Infantile Autism. A Case Control Study

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2008-01-01

    In order to study the broader phenotype of infantile autism (IA) we compared the rates and types of epilepsy and other neurological diseases in the parents of 111 consecutively admitted patients with IA with a matched control group of parents of 330 children from the general population. All participants were screened through the nationwide Danish…

  10. Un nuevo fármaco puede ser una opción de tratamiento para algunos cánceres de mama

    Cancer.gov

    Los resultados de un estudio clínico internacional permiten suponer que, en poco tiempo, habrá otra opción de tratamiento para las mujeres con cáncer de mama metastásico HER2 positivo que deja de responder a los tratamientos dirigidos con trastuzumab.

  11. Propranolol represses infantile hemangioma cell growth through the β2-adrenergic receptor in a HIF-1α-dependent manner.

    PubMed

    Li, Peng; Guo, Zhengtuan; Gao, Ya; Pan, Weikang

    2015-06-01

    Propranolol, as a non-selective blocker of the β-adrenergic receptor (AR), is utilised as the first-line treatment for infantile hemangiomas. However, the underlying mechanism remains poorly understood. The present study was designed to investigate the molecular basis of propranolol on the regression of infantile hemangiomas using a proliferating infantile hemangioma-derived endothelial cell line. In infantile hemangioma patients, we found that propranolol significantly decreased the expression levels of the hypoxia inducible factor (HIF)-1α in serum and urine, as well as in hemangioma tissues. In vitro analysis revealed that propranolol reduces the expression of HIF-1α in hemangioma cells in a dose- and time-dependent manner, mainly by acting on β2-AR. Interestingly, it was observed that overexpression of HIF-1α apparently abrogated the inhibitory effects of propranolol on vascular endothelial growth factor (VEGF) expression and cell growth. Our data further demonstrated that propranolol inhibited the signal transducer and activator of transcription 3 (STAT3), a critical oncogenic signaling molecule, and the anti-apoptotic protein Bcl-2. Additionally, overexpression of HIF-1α significantly reversed the inhibitory effects of propranolol on STAT3 signaling. In a mouse xenograft hemangioma model, overexpression of HIF-1α significantly attenuated the therapeutic effects of propranolol and inhibited propranolol-induced hemangioma cell apoptosis. Moreover, the protein levels of VEGF, phosphorylated STAT3, total STAT3 and Bcl-2 were significantly upregulated by HIF-1α overexpression in propranolol-treated nude mice bearing hemangiomas. Collectively, our data provide evidence that propranolol may regress infantile hemangiomas by suppressing VEGF and STAT3 signaling pathways in an HIF-1α-dependent manner.

  12. Particularité de la cystinose infantile chez l'enfant tunisien

    PubMed Central

    Jellouli, Manel; Turkia, Hadhami Ben; Abidi, Kamel; Hammi, Yosra; Gargah, Tahar

    2015-01-01

    La cystinose est une maladie rare qui résulte d'un défaut d'expression de la cystinosine transporteur de la cystine du lysosome. La forme infantile est la plus fréquente et la plus sévère. Elle conduit en dehors du traitement à l'insuffisance rénale chronique terminale au cours de la première décade de la vie. Nous rapportons l'expérience tunisienne de la cystinose infantile. Une étude rétrospective sur une période de 25 ans (1990-2014) était menée. Nous avons colligé 8 dossiers de cystinose infantile dans les services de pédiatrie des hôpitaux Charles Nicolle de Tunis et la Rabta de Tunis. Il s'agissait de 5garçons et de 3 filles. L’âge moyen au début des symptômes était de 6,37 mois (2-14 mois). L’âge moyen au moment du diagnostic était de 4 ans (7 mois-6 ans). Les dépôts cornéens de cystine étaient observés chez 7 patients. Sept patients présentaient une hypothyroïdie. La cystéamine était prescrite chez 6 patients. L’âge moyen au moment de la prescription de cystéamine était de 5,12 ans (8 mois- 13 ans). L’âge moyen lors de passage en insuffisance rénale chronique était de 3,4 ans. L’âge moyen lors du passage en insuffisance rénale chronique terminale était de 6,37 ans Actuellement, un patient garde une fonction rénale normale, trois patients sont en insuffisance rénale, deux patients sont décédés et un patient était transplanté. Il faut instaurer dans notre pays les moyens de diagnostic pour traiter tôt la maladie. PMID:26985266

  13. Fumar durante el tratamiento de cáncer (PDQ®)—Versión para profesionales de salud

    Cancer.gov

    Resumen de información revisada por expertos acerca de la influencia de seguir fumando sobre el tratamiento del cáncer y el riesgo de segundos cánceres. Se mencionan las intervenciones que estimulan dejar el hábito de fumar.

  14. Tratamiento ayuda a mujeres jóvenes a preservar fertilidad durante quimioterapia para cáncer de seno

    Cancer.gov

    Las mujeres jóvenes con cáncer de seno (mama) lograron preservar la fertilidad durante los tratamientos del cáncer con un fármaco inyectable bloqueador de hormonas que les provocó menopausia temporal. Los resultados del estudio se anunciaron hoy en el con

  15. Fumar durante el tratamiento de cáncer (PDQ®)—Versión para pacientes

    Cancer.gov

    Resumen de información revisada por expertos acerca de la influencia de seguir fumando sobre el tratamiento del cáncer y el riesgo de segundos cánceres. Se mencionan las intervenciones que estimulan dejar el hábito de fumar.

  16. [Infantile myofibromatosis. Study of a case using whole body ultrasound and MRI].

    PubMed

    Machan, K; Bravo Bravo, C; Martínez-León, M I; Affumicato, L

    2014-01-01

    Infantile myofibromatosis, despite being considered a rare condition, is the most common fibrous tumour in infancy. It is characterised by the presence of benign fibroblastic-myofibroblastic lesions. It usually occurs in children under two years-old, but it can appear at any age. The solitary form (myofibromas) may affect the skin, subcutaneous cellular tissue, muscle or bone. In the multi-centred form (myofibromatosis), there may also be visceral lesions. The lesions usually regress spontaneously in one or two years, with the prognosis being excellent in these cases. However, when there is visceral involvement, the prognosis is poor and treatment with chemotherapy is indicated. Lung involvement is more associated with a poor prognosis. Although the definitive diagnosis is by histopathology, diagnostic imaging tests are essential for characterising the lesions, establishing the extent of the disease, assessing visceral involvement, and following up the progression of the lesions.

  17. Infantile bisexuality and the 'complete oedipal complex': Freudian views on heterosexuality and homosexuality.

    PubMed

    Heenen-Wolff, Susann

    2011-10-01

    In the psychoanalytical discussion of what is 'mature' sexuality we speak of the 'genital' stage and the 'resolution' of the oedipal complex in the form of identification with the parent of the same sex and a heterosexually-directed object choice. A close reading of Freud's texts about sexuality shows that such a normative view cannot be corroborated by his viewpoint. He suggests that infantile sexuality is bisexually orientated, the final object choice due to repression of either homosexual or heterosexual desires. As Freud puts it, genital heterosexuality occurs out of necessity for procreation. In order to enrich the present psychoanalytical discussion about homosexuality and bisexuality the author returns to Freud's theories in this context.

  18. Vascular tumours in infants. Part I: benign vascular tumours other than infantile haemangioma.

    PubMed

    Hoeger, P H; Colmenero, I

    2014-09-01

    Vascular anomalies can be subdivided into vascular tumours and vascular malformations (VMs). While most VMs are present at birth and do not exhibit significant postnatal growth, vascular tumours are characterized by their dynamics of growth and (sometimes) spontaneous regression. This review focuses on benign vascular tumours other than infantile haemangiomas (IHs), namely pyogenic granuloma, eruptive pseudoangiomatosis, glomangioma, rapidly involuting and noninvoluting congenital haemangioma, verrucous haemangioma and spindle cell haemangioma. While some of them bear clinical resemblance to IH, they can be separated by age of appearance, growth characteristics and/or negative staining for glucose transporter 1. Separation of these tumours from IH is necessary because their outcome and therapeutic options are different. Semimalignant and malignant vascular tumours will be addressed in a separate review.

  19. Successful treatment of pulmonary hypertension with beraprost and sildenafil after cord blood transplantation for infantile leukemia.

    PubMed

    Kawashima, Nozomu; Ikoma, Masanobu; Sekiya, Yuko; Narita, Atsushi; Yoshida, Nao; Matsumoto, Kimikazu; Hatano, Tameo; Kato, Koji

    2013-01-01

    Pulmonary hypertension (PH) is an infrequently reported complication after hematopoietic stem cell transplantation, and its etiology and therapeutic strategies, especially in infants, remain unclear. We report a case of severe PH that developed in an infant with acute leukemia following administration of busulfan as a preconditioner for cord blood transplantation; the case was successfully treated with sildenafil and beraprost, which to our knowledge is the first reported successful use of this regimen in PH following transplantation for infantile leukemia. From a review of all previous reports, use of busulfan in infants may raise the risk of developing PH, and unlike definitive pulmonary veno-occlusive disease, PH in this subgroup may be reversible by early detection and treatment. PMID:23243005

  20. Oral rehydration in infantile diarrhoea. Controlled trial of a low sodium glucose electrolyte solution.

    PubMed Central

    Chatterjee, A; Mahalanabis, D; Jalan, K N; Maitra, T K; Agarwal, S K; Dutta, B; Khatua, S P; Bagchi, D K

    1978-01-01

    The paper describes the first controlled trial of an oral glucose electrolyte solution designed on the basis of the optimum pathophysiological needs for rehydration in infantile diarrahoea. The solution, having a sodium concentration of 50 mmol/l, was tried in a group of 20 infants with moderate to severe dehydration due to acute diarrhoea and was compared with a matched group of 19 infants predominantly under 2 years of age taking a 'standard' oral solution with a sodium concentration of 90 mmol/l. They could be hydrated as well with a low sodium oral solution alone as with the standard solution. Intravenous fluid was not required in either group. The group treated with the high soldium 'standard' solution appeared to develop hypernatraemia and/or periorbital oedema more frequently than the other group. Also, the low sodium solution eliminated the need for additional free water orally. PMID:348125

  1. Congenital infantile digital fibromatosis: a case report and review of the literature

    PubMed Central

    Failla, Valérie; Wauters, Odile; Nikkels-Tassoudji, Nazli; Carlier, Alain; André, Josette; Nikkels, Arjen F

    2009-01-01

    Infantile digital fibromatosis (IDF) is a rare benign fibroproliferative tumor of early childhood. IDF preferentially affects the fingers and the toes. Malignant transformation or metastases have never been reported. Surgical treatment has been advocated previously but local recurrences were observed frequently. Recent literature supports clinical surveillance without any medical or surgical intervention as spontaneous regression usually occurs after two to three years. A six-month-old Caucasian girl with IDF on the left fourth digit is presented here. The tumor progressively increased in size after birth. Topical imiquimod cream and diflucortolone valerate cream, both displaying antifibrotic properties, had no effect on tumor growth. Currently the lesion size remains stable without any treatment. Early recognition of IDF is important in order to avoid unnecessary surgical intervention that may prove to be potentially aggravating, unless serious functional or cosmetic concerns intervene. Parents should be reassured concerning the benign nature of IDF and be informed that spontaneous involution of IDF might be expected. PMID:21139926

  2. Congenital infantile digital fibromatosis: a case report and review of the literature.

    PubMed

    Failla, Valérie; Wauters, Odile; Nikkels-Tassoudji, Nazli; Carlier, Alain; André, Josette; Nikkels, Arjen F

    2009-01-01

    Infantile digital fibromatosis (IDF) is a rare benign fibroproliferative tumor of early childhood. IDF preferentially affects the fingers and the toes. Malignant transformation or metastases have never been reported. Surgical treatment has been advocated previously but local recurrences were observed frequently. Recent literature supports clinical surveillance without any medical or surgical intervention as spontaneous regression usually occurs after two to three years. A six-month-old Caucasian girl with IDF on the left fourth digit is presented here. The tumor progressively increased in size after birth. Topical imiquimod cream and diflucortolone valerate cream, both displaying antifibrotic properties, had no effect on tumor growth. Currently the lesion size remains stable without any treatment. Early recognition of IDF is important in order to avoid unnecessary surgical intervention that may prove to be potentially aggravating, unless serious functional or cosmetic concerns intervene. Parents should be reassured concerning the benign nature of IDF and be informed that spontaneous involution of IDF might be expected. PMID:21139926

  3. Unusual case of infantile fibrosarcoma evaluated on F-18 fluorodeoxyglucose positron emission tomography-computed tomography

    PubMed Central

    Bedmutha, Akshay; Singh, Natasha; Shivdasani, Divya; Gupta, Nitin

    2016-01-01

    Infantile fibrosarcoma (IFS) is a rare soft-tissue sarcoma originating from extremities and occasionally from axial soft tissue. The prognosis is good with favorable long-term survival. It is rarely metastasizing tumor, the chances being lesser with IFS originating from extremities. Use of neoadjuvant chemotherapy (NACT) as a treatment regime further reduces the chances of local relapse and distant metastasis. The organs commonly affected in metastatic IFS are lungs and lymph nodes. We report an unusual case of an IFS originating from extremity, which received NACT, yet presented with an early metastatic disease involving soft tissues and sparing lungs and lymph nodes, as demonstrated on fluorodeoxyglucose positron emission tomography-computed tomography. PMID:27385891

  4. Medical-dental findings and management of a child with infantile Refsum disease: a case report.

    PubMed

    Acharya, Bhavini S; Ritwik, Priyanshi; Velasquez, Gisela M; Fenton, Sanford J

    2012-06-01

    Infantile Refsum disease (IRD) is a peroxisome biogenesis disorder (PBD), and is part of a larger group of diseases called leukodystrophies, which are inherited conditions that damage the white matter of the brain and affect motor movements. Multiple signs and symptoms of IRD begin in infancy and progress through early childhood, including hearing and visual impairment, intellectual and growth impairment, seizures, liver involvement, and orofacial and dental abnormalities. This paper presents a case history of a 12-year-old female patient with IRD who underwent dental rehabilitation in the operating room under general anesthesia and includes a 2-year follow-up. Medical, dental, and management considerations in the care of this child's condition are presented. This paper also discusses the importance of a multidisciplinary approach in the management of children with special needs.

  5. Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases.

    PubMed

    Roels, F; Cornelis, A; Poll-The, B T; Aubourg, P; Ogier, H; Scotto, J; Saudubray, J M

    1986-10-01

    We examined liver biopsies from 4 patients with the infantile form of Refsum disease. No peroxisomes were visualized by light microscopy after cytochemical staining for catalase, a marker enzyme for this organelle. Absence of peroxisomes was confirmed by electron microscopy in 3 patients; in the 4th patient we observed organelles of peculiar size and structure and with minimal catalase activity. Light microscopy also showed birefringent macrophages containing P.A.S.-positive material; they were abundant in the 3 older children, and rare in the youngest (8 months). Peroxisomes and birefringent macrophages were absent in 2 patients with the cerebrohepatorenal syndrome of Zellweger. The simultaneous presence of these unique light microscopical characteristics may be of diagnostic value.

  6. Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?

    PubMed

    Grover, Z; Lewindon, P; Clousten, A; Shaag, A; Elpeleg, O; Coman, D

    2015-01-01

    Defects in the mitochondrial respiratory chain can induce a heterogeneous range of clinical and biochemical manifestations. Hepatic involvement includes acute fulminant hepatic failure, microvesicular steatosis, neonatal non-alloimmune haemochromatosis and cirrhosis. Recently pathogenic mutations in tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) gene (OMIM 610230) have been demonstrated to cause transient infantile liver failure (OMIM 613070). The human TRMU gene encodes a mitochondrial protein, 5-methylaminomethyl-2-thiouridylate methyltransferase, whose molecular function is that of mitochondrial tRNA modification.We report an infant who presented with acute liver failure, in whom we observed hepatic copper intoxication and cirrhosis on liver biopsy. We postulate that the hepatic copper intoxication observed in our patient is most likely a secondary event associated with cholangiopathy. Periportal copper accumulation has been implicated in causing secondary mitochondrial dysfunction; the impact of copper accumulation in patients with TRMU mutations is unclear and warrants long-term clinical follow-up.

  7. Dural-based infantile hemangioma of the posterior fossa: Case report

    PubMed Central

    Shakir, Hakeem J.; McBride, Paul; Reynolds, Renée M.

    2016-01-01

    Background: The authors present the unique case of a dural-based, infantile hemangioma located in the posterior fossa of a 15-day-old infant. Case Description: The patient presented with hydrocephalus. The lesion was identified by magnetic resonance imaging and was subsequently resected. Diagnosis of the lesion was confirmed with immunohistochemistry staining. The patient's hospital course was complicated by transverse sinus thrombosis and a cerebrospinal fluid leak that were treated with anticoagulation therapy and ventriculoperitoneal shunt placement, respectively. Conclusion: Although hemangiomas are benign entities, our patient's lesion was in the posterior fossa causing compression and hydrocephalus that necessitated resection. We encourage others to consider the possibility of hemangioma in the differential diagnosis of dural-based posterior fossa lesions in infants. PMID:27213106

  8. Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

    PubMed

    Nasca, Alessia; Legati, Andrea; Baruffini, Enrico; Nolli, Cecilia; Moroni, Isabella; Ardissone, Anna; Goffrini, Paola; Ghezzi, Daniele

    2016-09-01

    Mitochondria are highly dynamic organelles, undergoing continuous fission and fusion, and mitochondrial dynamics is important for several cellular functions. DNM1L is the most important mediator of mitochondrial fission, with a role also in peroxisome division. Few reports of patients with genetic defects in DNM1L have been published, most of them describing de novo dominant mutations. We identified compound heterozygous DNM1L variants in two brothers presenting with an infantile slowly progressive neurological impairment. One variant was a frame-shift mutation, the other was a missense change, the pathogenicity of which was validated in a yeast model. Fluorescence microscopy revealed abnormally elongated mitochondria and aberrant peroxisomes in mutant fibroblasts, indicating impaired fission of these organelles. In conclusion, we described a recessive disease caused by DNM1L mutations, with a clinical phenotype resembling mitochondrial disorders but without any biochemical features typical of these syndromes (lactic acidosis, respiratory chain complex deficiency) or indicating a peroxisomal disorder. PMID:27328748

  9. Brainstem pathology of infantile Gaucher's disease with only wave I and II of auditory brainstem response.

    PubMed

    Kaga, K; Ono, M; Yakumaru, K; Owada, M; Mizutani, T

    1998-11-01

    We studied the auditory brainstem response (ABR) and neuropathology in a female infant who died at six months of age because of typical infantile Gaucher's disease. The patient was hospitalized for hepatosplenomegaly and failure to thrive. Her ABR showed only waves I and II. The neuropathological study disclosed that: (1) Gaucher's cells were found in the perivascular region of the cerebrum and anterior ventral nucleus of the thalamus. (2) Gliosis was found in the dorsal part of the brainstem rather than the ventral part. (3) Neuronal cells in the superior olivary nucleus were lost, and marked gliosis was found in the cochlear nucleus. The disappearance of wave III and later waves of ABR could be supported by these pathological findings. PMID:10197147

  10. Ventral midline blanching in the setting of segmental infantile hemangiomas: clinical observations and pathogenetic implications.

    PubMed

    Feigenbaum, Dana F; Sybert, Virginia P; Vanderhooft, Sheryll L; Siegel, Dawn; Drolet, Beth A; Frieden, Ilona J; Mathes, Erin F D

    2015-01-01

    Areas of blanched skin in children may be seen as an independent finding or in association with vascular birthmarks. We performed a retrospective chart review to identify and describe infants with areas of ventral midline blanching in the presence of segmental infantile hemangiomas. We identified nine full-term infants with partial or full segmental hemangiomas and areas of midline ventral blanching. Additional ventral wall defects were seen in five patients. Six had cardiac anomalies and six had intracranial anomalies. Five were diagnosed with definite PHACE (posterior fossa, hemangioma, arterial, cardiac, and eye abnormalities) syndrome and three had possible PHACE syndrome. Eight were complicated by ulceration. Treatment varied according to the case. Ventral blanching, even in the absence of overt midline defects, can be seen in infants with segmental hemangiomas at risk for PHACE syndrome. We hypothesize that midline blanching may represent a minor manifestation of a developmental ventral defect.

  11. Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

    SciTech Connect

    Landau, D.; Shalev, H.; Carmi, Rivka; Ohaly, M.

    1995-12-04

    The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. 35 refs., 2 figs., 2 tabs.

  12. Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.

    PubMed

    Conroy, Judith; Allen, Nicholas M; Gorman, Kathleen; O'Halloran, Eoghan; Shahwan, Amre; Lynch, Bryan; Lynch, Sally A; Ennis, Sean; King, Mary D

    2016-08-01

    SLC1A4 deficiency is a recently described neurodevelopmental disorder associated with microcephaly, global developmental delay, abnormal myelination, thin corpus callosum and seizures. It has been mainly reported in the Ashkenazi-Jewish population with affected individuals homozygous for the p.Glu256Lys variant. Exome sequencing performed in an Irish proband identified a novel homozygous nonsense SLC1A4 variant [p.Trp453*], confirming a second case of SLC1A4-associated infantile spasms. As this is the first European identified, population ancestry analysis of the Exome Aggregation Consortium database was performed to determine the wider ethnic background of SLC1A4 deficiency carriers. p.Glu256Lys was found in Hispanic and South Asian populations. Other potential disease-causing variants were also identified. Investigation for SLC1A4 deficiency should be performed regardless of ethnicity and extend to include unexplained early-onset epileptic encephalopathy.

  13. Single-plane compensatory phase shift of head and eye oscillations in infantile nystagmus syndrome.

    PubMed

    Anagnostou, Evangelos; Spengos, Konstantinos; Anastasopoulos, Dimitri

    2011-09-15

    A 43-year-old man with infantile nystagmus syndrome complained of "head tremor" that would occur during attempted reading. Three-dimensional, combined eye and head recordings were performed with the magnetic search coil technique in two conditions: 1) looking straight-ahead under photopic conditions without a particular attentional focus and 2) reading a simple text held one meter away. A mainly vertical-horizontal spontaneous nystagmus was evident in both conditions, whereas head nodding emerged in the second condition. The head oscillated only in the vertical plane and concomitant analysis of eye and head displacement revealed a counterphase, compensatory pattern of the first harmonic of the INS waveform. This was verified by the significant negative peak of the crosscorrelogram at zero lag. Eye-in-space (gaze) displacement during nystagmic oscillations was thereby reduced suggesting a central adaptive behavior that may have evolved to partly compensate for the abnormal eye movements during reading.

  14. Infantile Hemangioma Originates From A Dysregulated But Not Fully Transformed Multipotent Stem Cell

    PubMed Central

    Harbi, Shaghayegh; Wang, Rong; Gregory, Michael; Hanson, Nicole; Kobylarz, Keith; Ryan, Kamilah; Deng, Yan; Lopez, Peter; Chiriboga, Luis; Mignatti, Paolo

    2016-01-01

    Infantile hemangioma (IH) is the most common tumor of infancy. Its cellular origin and biological signals for uncontrolled growth are poorly understood, and specific pharmacological treatment is unavailable. To understand the process of hemangioma-genesis we characterized the progenitor hemangioma-derived stem cell (HemSC) and its lineage and non-lineage derivatives. For this purpose we performed a high-throughput (HT) phenotypic and gene expression analysis of HemSCs, and analyzed HemSC-derived tumorspheres. We found that IH is characterized by high expression of genes involved in vasculogenesis, angiogenesis, tumorigenesis and associated signaling pathways. These results show that IH derives from a dysregulated stem cell that remains in an immature, arrested stage of development. The potential biomarkers we identified can afford the development of diagnostic tools and precision-medicine therapies to “rewire” or redirect cellular transitions at an early stage, such as signaling pathways or immune response modifiers. PMID:27786256

  15. Encephalopathy in an infant with infantile spasms: possible role of valproate toxicity

    PubMed Central

    Sivathanu, Shobhana; Sampath, Sowmya; Veerasamy, Madhubala; Sunderkumar, Satheeshkumar

    2014-01-01

    An infant presented with global developmental delay and infantile spasms. EEG was suggestive of hypsarrhythmia. She was started on sodium valproate, clonazepam and adrenocorticotropic hormone injection. After an initial improvement the child developed vomiting, altered sensorium and increase in frequency of seizures suggestive of encephalopathy. Valproate-induced hyperammonaemia or hepatic encephalopathy was considered and the drug was withheld following which there was a dramatic improvement. Paradoxically, the liver function tests and serum ammonia were normal. However, a complete reversal of encephalopathy, on withdrawal of the drug, strongly suggested an adverse drug reaction (ADR) due to valproic acid. Marginal elevation of serum valproic acid prompted us to use the Naranjo ADR probability score to confirm the diagnosis. This case highlights the fact that valproate toxicity can manifest with normal liver function and serum ammonia levels. This is the youngest reported case with this rare form of valproate-induced encephalopathy. PMID:24810446

  16. ACT-asthma control y tratamiento para niños: a progress report.

    PubMed

    Lewis, M A; de la Sota, A; Rachelefsky, G; Lewis, C E; Quinones, H; Richards, W

    1987-01-01

    A randomized clinical trial is in progress to evaluate an asthma educational program for Latino children and their parents. The intervention, "ACT-Asma Control y Tratamiento Para Niños," was adapted from ACT for Kids, an asthma self-management program for English-speaking families. Results of a pilot study indicated that socioeconomic status was a critical variable to be considered in the design of such programs. Latino children and parents encounter significant barriers to access and continuity of medical care. Therefore, the intervention was redesigned to include "linkages" using a nurse to reduce barriers and to coordinate care. The lesson plans emphasize concrete, experimental learning experiences, with repetition of key points in each session. PMID:3654235

  17. The effectiveness of massage therapy in the treatment of infantile colic symptoms: A randomized controlled trial

    PubMed Central

    Sheidaei, Ali; Abadi, Alireza; Zayeri, Farid; Nahidi, Fatemeh; Gazerani, Nafiseh; Mansouri, Anita

    2016-01-01

    Background: Infantile colic, cry-fuss and sleep problems are transient in the initial months of life, but they contribute to maternal depression, parenting stress and family mental health problems. In this randomized clinical trial, we aimed to explore the efficacy of massage therapy compared to rocking in reducing infantile colic symptoms including duration and number of cries, sleep duration and severity of infant colic. Methods: This was a single blind RCT study with a one-week follow-up. One hundred colicky infants aged younger than 12 weeks old were randomly assigned into massage and rocking groups. Infants in the massage group received a massage for 15-20 minutes once during a day and once at night before sleeping for a week. In the control group, mothers rocked their infants gently for 5-25 minutes when the symptoms of colic appeared. Parents recorded the details of the colic symptoms in a diary every day. A GEE approach was applied to explore the effect of the intervention. Results: Efficiency of massage therapy was significantly higher than rocking. At the end of the study, the mean number of daily cries was 4.26±1.40 in the massage and 6.9±2.14 the rocking groups (p<0.01). The mean of the severity score was 1.39±0.19 less in the massage group (p<0.01). Moreover, the mean differences of massage and rocking groups were -0.82±0.20 hour (p<0.01) and 0.72±0.35 (p= 0.04) in the duration of cries and duration of sleep, respectively. Conclusion: Massaging significantly improved colic symptoms during a one-week intervention for all outcomes. In addition, significant differences were found between the intervention and control groups in favor of massaging. Therefore, massage therapy is more effective than rocking for treating infant colic symptoms. PMID:27453882

  18. [Lesiones de mucosa bucal. Factores asociados en población infantil].

    PubMed

    Linares-Vieyra, Celia; Meza-Sánchez, Julieta Del Carmen; González-Guevara, Martha Beatriz; Murrieta-Pruneda, José Francisco; Salgado-Rodríguez, Sandra Jessica; Morales-Jaimes, Rosalba

    2013-01-01

    Introducción: la prevalencia de las lesiones de mucosa bucal en los niños varía de 4.1 a 52.6 %, debido a diferencias poblacionales y metodológicas. El objetivo fue identificar la prevalencia de dichas lesiones y su posible asociación con antecedentes patológicos y hábitos parafuncionales en una población infantil, atendida en la clínica dental San Lorenzo Atemoaya. Métodos: estudio descriptivo, retrospectivo y transversal de niños atendidos entre 2006 y 2009. Se obtuvieron las prevalencias de las lesiones y para la asociación entre variables se utilizó regresión logística no condicional. Resultados: de 1228 expedientes, 367 correspondieron a niños, 200 del sexo masculino (54.5 %). La mediana de edad fue de seis años. La prevalencia de las lesiones de la mucosa bucal fue de 66.2 %. Las lesiones más frecuentes fueron la queilitis simple (41.1 %), la mácula melanótica (18.3 %), las petequias (16.9 %) y la úlcera traumática (12 %), sin diferencias entre sexos. La succión labial se asoció con queilitis simple (RM = 1.7, p = 0.013) y onicofagia con úlceras recurrentes (RM = 15.75, p = 0.026). Conclusiones: se observó alta prevalencia de lesiones de mucosa bucal en la población infantil estudiada y se confirma la asociación con hábitos parafuncionales.

  19. Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

    PubMed

    Patiño, Liliana Catherine; Battu, Rajani; Ortega-Recalde, Oscar; Nallathambi, Jeyabalan; Anandula, Venkata Ramana; Renukaradhya, Umashankar; Laissue, Paul

    2014-01-01

    The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into six categories, which have been mainly defined regarding the clinical onset of symptoms. However, some patients cannot be easily included in a specific group because of significant variation in the age of onset and disease progression. Molecular genetics has emerged in recent years as a useful tool for enhancing NCL subtype classification. Fourteen NCL genetic forms (CLN1 to CLN14) have been described to date. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations. Despite advances in the diagnosis of neurodegenerative disorders mutations in these genes may cause similar phenotypes, which rends difficult accurate candidate gene selection for direct sequencing. Three siblings who were affected by variant late-infantile NCL are reported in the present study. We used whole-exome sequencing, direct sequencing and in silico approaches to identify the molecular basis of the disease. We identified the novel c.1219T>C (p.Trp407Arg) and c.1361T>C (p.Met454Thr) MFSD8 pathogenic mutations. Our results highlighted next generation sequencing as a novel and powerful methodological approach for the rapid determination of the molecular diagnosis of NCL. They also provide information regarding the phenotypic and molecular spectrum of CLN7 disease.

  20. Clinical Experience of Infantile Posthemorrhagic Hydrocephalus Treated with Ventriculo-Peritoneal Shunt

    PubMed Central

    Kim, Hae Min

    2015-01-01

    Objective Infantile posthemorrhagic hydrocephalus (IPHH) is the most common cause of infantile acquired hydrocephalus. We present and discuss our experience of treatment of six IPHH patients treated by a ventriculo-peritoneal (VP) shunt. Methods Six preterm infants treated by a VP shunt due to germinal matrix hemorrhage and hydrocephalus were included in our study. External ventricular drainage (EVD) was performed in patients with symptomatic ventricular dilatation, and a VP shunt was placed in the case of no improvement of the ventricular index despite several rounds of EVD. Radiographic findings and surgical outcomes were analyzed retrospectively. Results Four patients were male and two were female. Mean gestational age was 25 weeks and mean weight at birth was 868.3 g. One patient had a Papile grade II (16.7%) hemorrhage, three had a grade III (50%) hemorrhage, and two had a grade IV (33.3%) hemorrhage. EVD complications (one case of ventriculitis and one case of a ventricular abscess) occurred in two patients. VP shunt complications occurred in two patients (33.3%). Three cases had an isolated 4th ventricle; two of these cases had a VP shunt placed whereas the other case had a VP shunt placed in addition to aqueductoplasty using a neuroendoscope. At the last follow-up, three of the six patients had severe neurodevelopmental delay, two had mild neurodevelopmental delay, and one had normal development status. Conclusion In our study, although it is difficult to present the significant result for management of IPHH, we think that varied efforts are required to treat IPHH patients. PMID:27169074

  1. Effectiveness and Safety of Oral Propranolol versus Other Treatments for Infantile Hemangiomas: A Meta-Analysis

    PubMed Central

    Liu, Xiaohan; Qu, Xinhua; Zheng, Jiawei; Zhang, Ling

    2015-01-01

    Background Epidemiological studies evaluating treatments for infantile hemangiomas have produced inconsistent results. A meta-analysis of published data was conducted to investigate the effectiveness and safety of oral propranolol versus other treatments for infantile hemangiomas. Methods A meta-analysis was conducted based on literature (published from 1960 to December 1, 2014) found on the PubMed, EMBASE, and OVID search engines. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were estimated for the outcome measures. Heterogeneity, publication bias and subgroup analysis were performed. Results A total of 61 studies involving 5,130 participants met the inclusion criteria. Propranolol was found to be a more effective modality in treating IHs (ORs = 0.92; 95%CI, 0.89–0.95) and had fewer complications compared to the other treatments including systemic steroids (ORs = 0.68; 95% CI, 0.59–0.76); laser ablation (ORs = 0.55; 95% CI, 0.43–0.67); other beta-adrenergic blockers (ORs = 0.56; 95% CI, 0.50–0.61) and surgery (ORs = 0.55; 95% CI, 0.28–0.81). A subgroup analysis of propranolol showed that a dose of 2 mg/kg/day or more yielded better outcomes (ORs = 0.92; 95% CI, 0.88–0.95; ORs = 0.95; 95% CI, 0.89–1.00), and IHs that had not been previously treated had better responses to propranolol treatment (ORs = 0.95; 95% CI, 0.91–0.98). Conclusions The meta-analysis demonstrated that propranolol was more effective and safer than other therapies in treating IHs. It provides strong evidence for supporting the use of propranolol as a first-line therapy for IHs. PMID:26375455

  2. Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports

    PubMed Central

    Vargiami, E; Papathanasiou, E; Batzios, S; Kyriazi, M; Dimitriou, E; Anastasiou, A; Michelakakis, H; Giese, A-K

    2016-01-01

    Abstract Krabbe disease is an autosomal recessive neurodegenerative disorder due to a defect of the lysosomal enzyme β-galactocerebrosidase (β-GALC). Depending on the age of onset, the disease is classified into infantile and later-onset forms. We report neuroradiological, neurophysiological and molecular findings in two Greek patients with the infantile form of Krabbe disease. The index patients presented at the age of 3.5 and 6 months, respectively, due to developmental delay. Magnetic resonance imaging (MRI) of the first patient’s brain demonstrated signs of leukodystrophy, while nerve conduction velocities (NCVs) were significantly decreased. The second patient’s MRI at the age of 4 months was initially normal, but at 18 months demonstrated leukodystrophic alterations as well, whereas NCVs were also significantly delayed. In both patients, a severe decrease in β-GALC, activity supported the diagnosis of Krabbe disease, while the final diagnosis was confirmed by molecular genetic testing. Two homozygous mutations of the GALC gene, the c.411_413delTAA [p.K139del] mutation in the first patient, and the c.749T>C [p.I250T] mutation in the second patient, were identified. At their last follow-up visit at the age of 4 and 6 years, respectively, both patients were bedridden and quadri-plegic, suffering from frequent respiratory tract infections and fed through a gastrostomy. Both mutations found in homozygosity in these two unrelated patients of Greek ancestry, could pinpoint a common origin. Genotyping of patients with Krabbe disease is important, in order to contribute to the creation of a European mutation database and to further study possible genotype-phenotype correlations of the disease. PMID:27785412

  3. Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

    PubMed

    Patiño, Liliana Catherine; Battu, Rajani; Ortega-Recalde, Oscar; Nallathambi, Jeyabalan; Anandula, Venkata Ramana; Renukaradhya, Umashankar; Laissue, Paul

    2014-01-01

    The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into six categories, which have been mainly defined regarding the clinical onset of symptoms. However, some patients cannot be easily included in a specific group because of significant variation in the age of onset and disease progression. Molecular genetics has emerged in recent years as a useful tool for enhancing NCL subtype classification. Fourteen NCL genetic forms (CLN1 to CLN14) have been described to date. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations. Despite advances in the diagnosis of neurodegenerative disorders mutations in these genes may cause similar phenotypes, which rends difficult accurate candidate gene selection for direct sequencing. Three siblings who were affected by variant late-infantile NCL are reported in the present study. We used whole-exome sequencing, direct sequencing and in silico approaches to identify the molecular basis of the disease. We identified the novel c.1219T>C (p.Trp407Arg) and c.1361T>C (p.Met454Thr) MFSD8 pathogenic mutations. Our results highlighted next generation sequencing as a novel and powerful methodological approach for the rapid determination of the molecular diagnosis of NCL. They also provide information regarding the phenotypic and molecular spectrum of CLN7 disease. PMID:25333361

  4. Infantile Spasms

    MedlinePlus

    ... a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West ... supports broad and varied programs of research on epilepsy and other seizure disorders. This research is aimed ...

  5. Infantile Esotropia

    MedlinePlus

    ... esotropia? Yes. Many develop some degree of dissociated vertical divergence (DVD). DVD is an upward drifting of ... eyes open) is typically not affected. Occasionally a vertical acting eye muscle (inferior oblique) may overact which ...

  6. Giant chorioangioma treated in utero via laser of feeding vessels with subsequent development of multifocal infantile hemangiomas.

    PubMed

    Jhun, Katrina M; Nassar, Paulo; Chen, Tina S; Sardesai, Smeeta; Chmait, Ramen H

    2015-02-01

    We report a case of a giant placental chorioangioma (15.6 cm diameter) complicated by polyhydramnios and severe fetal heart failure. Fetoscopic laser occlusion of a dominant feeding vessel was performed at 29 weeks' gestation and partial devascularization was achieved. In the 33rd week of the pregnancy, the decision was made to preemptively deliver the fetus due to persistent signs of fetal cardiac failure. After birth, the infant developed multifocal infantile hemangiomas with extracutaneous involvement. We posit that the development of infantile hemangiomas may be linked to the presence of the large chorioangioma. Further study is required to ascertain if fetal treatment of the chorioangioma may have been an exacerbating factor.

  7. Infantile 4-tert-octylphenol exposure transiently inhibits rat ovarian steroidogenesis and steroidogenic acute regulatory protein (StAR) expression

    SciTech Connect

    Myllymaeki, S.A. . E-mail: saanmy@utu.fi; Karjalainen, M.; Haavisto, T.E.; Toppari, J.; Paranko, J.

    2005-08-22

    Phenolic compounds, such as 4-tert-octylphenol (OP), have been shown to interfere with rat ovarian steroidogenesis. However, little is known about steroidogenic effects of infantile OP exposure on immature ovary. The aim of the present study was to investigate the effects of infantile OP exposure on plasma FSH, LH, estradiol, and progesterone levels in 14-day-old female rats. The effect on ovarian steroidogenic acute regulatory protein (StAR) and FSH receptor (FSHr) expression was analyzed by Western blotting. Ex vivo analysis was carried out for follicular estradiol, progesterone, testosterone, and cAMP production. Sprague-Dawley rats were given OP (0, 10, 50, or 100 mg/kg) subcutaneously on postnatal days 6, 8, 10, and 12. On postnatal day 14, plasma FSH was decreased and progesterone increased significantly at a dose of 100 mg OP/kg. In addition, the highest OP dose advanced the time of vaginal opening in puberty. OP had no effect on infantile LH and estradiol levels or ovarian FSHr content. Ovarian StAR protein content and ex vivo hormone and cAMP production were decreased at all OP doses compared to controls. However, hormone levels recovered independent on FSH and even increased above the control level during a prolonged culture. On postnatal day 35, no statistically significant differences were seen between control and OP-exposed animals in plasma FSH, LH, estradiol, and progesterone levels, or in ovarian StAR protein content. The results indicate that the effect of OP on the infantile ovary is reversible, while more permanent effects in the hypothalamus and pituitary, as described earlier, are involved in the reduction of circulating FSH levels and premature vaginal opening.

  8. Perisylvian polymicrogyria, infantile spasms and arthrogryposis: the severe end of the spectrum of congenital bilateral perisylvian polymicrogyria.

    PubMed

    De Coene, Anja; Van Coster, Rudy; Verhelst, Helene

    2010-05-01

    Congenital bilateral perisylvian polymicrogyria (CBPP) is the most frequent type of polymicrogyria in children. A 3-month-old male patient is described here with the combination of CBPP, infantile spasms and arthrogryposis. Only four patients have been reported earlier in the literature with this combination. Three of them had epilepsy. These patients represent the more severe phenotype of CBPP, characterized by early onset of symptoms, epilepsy, mental retardation, pseudobulbar palsy and arthrogryposis. PMID:19559633

  9. Genetic correlation of SOCS3 polymorphisms with infantile asthma: an evidence based on a case-control study

    PubMed Central

    Fang, Ying; Ren, Xiaoxia; Feng, Zhanwei

    2015-01-01

    Objective: In order to explore the relevance of SOCS3 gene polymorphisms with infantile asthma and provide evidence for the ethology of infantile asthma, we conducted this case-control study. Methods: A total of 273 children were enrolled for study in this article, including 119 children with asthma and 154 healthy controls frequency-matched with the former in sex and age. The genotyping of SOCS3 rs4969170, rs4969168 polymorphisms in all subjects were performed using TaqMan probe method. Odds ratio (OR) with 95% confidence interval (CI) was used to represent the association strength between SOCS3 polymorphisms and infantile asthma and calculated by χ² test which was conducted to check the Hardy-Weinberg equilibrium (HWE) in the control group. Results: The genotypes distributions of SOCS3 polymorphisms in controls conformed to HWE. Compared with GG/GA genotype in SOCS3 rs4969170, AA genotype obviously increased the susceptibility to asthma in children (OR=2.556, 95% CI=1.377-4.744) and A allele also made the same conclusion (OR=2.287, 95% CI=1.311-3.991). Differently in rs4969168, AG and AG/GG genotypes distributions had significant differences in two groups (P=0.036, 0.043). This two polymorphisms existed the linkage disequilibrium and the haplotype analysis showed that A-G and A-A haplotypes in rs4969170-rs4969168 increased 1.855 and 0.863 times risk of asthma development in children, respectively. Conclusions: A significant relevance involved in SOCS3 gene polymorphisms and infantile asthma development based on a Chinese Han population. PMID:26464723

  10. Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment.

    PubMed

    Chen, Tai-Heng; Lai, Yu-Hung; Lee, Pei-Lun; Hsu, Jong-Hau; Goto, Kanako; Hayashi, Yukiko K; Nishino, Ichizo; Lin, Chin-Wen; Shih, Hsiang-Hung; Huang, Chao-Ching; Liang, Wen-Chen; Wang, Wen-Fu; Jong, Yuh-Jyh

    2013-04-01

    Contrary to the classical form, infantile facioscapulohumeral muscular dystrophy (FSHD) usually denotes a severe phenotype and is frequently associated with extramuscular involvements. To elucidate the genotype-phenotype correlation in this severe subgroup, we identified a cohort of nine patients with infantile FSHD who also carried a very short (10-13kb) EcoRI fragment. Their current age ranged from 8 to 33 years and age of onset ranged from 0.4 to 5 years. One patient even manifested his first FSHD-related symptoms at as early as 5 months of age, including inability to smile, poor response to call, and infantile spasms. To date, four patients were wheelchair-bound and six patients had asymmetric weakness. Sensorineural hearing loss and abnormal fundoscopic findings were observed in eight and all of patients respectively. Three with the smallest EcoRI fragments (10-11kb, with normal length being 50-300kb) had mental retardation. Two of these had epilepsy. Cardiac arrhythmias were found in five patients. Restrictive ventilatory defects were observed in seven patients, with one progressing to chronic respiratory failure. Two had swallowing difficulties; one of these required gastrostomy. We identified several rarely reported phenotypes in infantile FSHD, including cardiac arrhythmia, respiratory insufficiency, and swallowing difficulties. There seems to be a correlation between the severity of phenotype and the very short EcoRI fragment in the chromosome 4q35 region. We conclude that the high frequency of multi-organ involvements in this severe FSHD variant suggests the need for an early and multidisciplinary intervention. PMID:23434070

  11. Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies.

    PubMed

    Galanopoulou, Aristea S; Moshé, Solomon L

    2015-07-01

    Early onset and infantile epileptic encephalopathies (EIEEs) are usually associated with medically intractable or difficult to treat epileptic seizures and prominent cognitive, neurodevelopmental and behavioral consequences. EIEEs have numerous etiologies that contribute to the inter- and intra-syndromic phenotypic variability. Etiologies include structural and metabolic or genetic etiologies although a significant percentage is of unknown cause. The need to better understand their pathogenic mechanisms and identify better therapies has driven the development of animal models of EIEEs. Several rodent models of infantile spasms have emerged that recapitulate various aspects of the disease. The acute models manifest epileptic spasms after induction and include the NMDA rat model, the NMDA model with prior prenatal betamethasone or perinatal stress exposure, and the γ-butyrolactone induced spasms in a mouse model of Down syndrome. The chronic models include the tetrodotoxin rat model, the aristaless related homeobox X-linked (Arx) mouse models and the multiple-hit rat model of infantile spasms. We will discuss the main features and findings from these models on target mechanisms and emerging therapies. Genetic models have also provided interesting data on the pathogenesis of Dravet syndrome and proposed new therapies for testing. The genetic associations of many of the EIEEs have also been tested in rodent models as to their pathogenicity. Finally, several models have tested the impact of subclinical epileptiform discharges on brain function. The impact of these advances in animal modeling for therapy development will be discussed. PMID:25968935

  12. Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: a view from preclinical studies

    PubMed Central

    Galanopoulou, Aristea S.; Moshé, Solomon L.

    2015-01-01

    Early onset and infantile epileptic encephalopathies (EIEEs) are usually associated with medically intractable or difficult to treat epileptic seizures and prominent cognitive, neurodevelopmental and behavioral consequences. EIEEs have numerous etiologies that contribute to the inter- and intra-syndromic phenotypic variability. Etiologies include structural and metabolic or genetic etiologies although a significant percentage is of unknown cause. The need to better understand their pathogenic mechanisms and identify better therapies has driven the development of animal models of EIEEs. Several rodent models of infantile spasms have emerged that recapitulate various aspects of the disease. The acute models manifest epileptic spasms after induction and include the NMDA rat model, the NMDA model with prior prenatal betamethasone or perinatal stress exposure, and the γ-butyrolactone induced spasms in a mouse model of Down syndrome. The chronic models include the tetrodotoxin rat model, the aristaless related homeobox X-linked (Arx) mouse models and the multiple-hit rat model of infantile spasms. We will discuss the main features and findings from these models on target mechanisms and emerging therapies. Genetic models have also provided interesting data on the pathogenesis of Dravet syndrome and proposed new therapies for testing. The genetic associations of many of the EIEEs have also been tested in rodent models as to their pathogenicity. Finally, several models have tested the impact of subclinical epileptiform discharges on brain function. The impact of these advances in animal modeling for therapy development will be discussed. PMID:25968935

  13. [Infantile visceral leishmaniasis in the Campania region, Italy: experience from a Paediatric Referral Centre].

    PubMed

    di Martino, L; Gramiccia, M; Occorsio, P; Di Muccio, T; Scalone, A; Gradoni, L

    2004-06-01

    In the first half of the 20th century, visceral leishmaniasis (VL) was a common infantile syndrome in coastal territories of the Campania region of Italy. After World War II, the incidence dropped to a few cases/year for three decades; in late 1980s the disease reemerged among both children and adults. To face the VL recrudescence, a Paediatric Reference Centre was established at the Santobono-Pausilipon hospital in Naples, for the clinical diagnosis, care and drug treatment of all infantile VL cases occurred in the Campania region. Rapid laboratory diagnosis was secured by a Diagnostic Reference Centre established at the Istituto Superiore di Sanità. Here, we report on the epidemiological and parasitological features of all cases referred to the Centre in the past 15 years. From 1990 to March 2004, a total of 255 cases were diagnosed and treated at the Centre. The Figure shows the yearly trend of patients (min. 3 cases in 1990 and 1991, max. 30 cases in 2000). There were 135 males (52.9%); the age ranged 4 months-14 years, but 189 patients (74.1%) were < or = 3 years old. The majority of the patients (189, 74.1%) were from the Naples province, with a cluster of 102 cases (40% of total patients) from the towns and districts surrounding Vesuvius. Twenty-seven cases (10.6%) were from the town of Maddaloni, Caserta province, whereas 15 cases (5.9%) were from coastal villages of the Salerno province. Only 1 and 2 cases were from Benevento and Avellino provinces, respectively. All patients but seven, who have been treated with antimonial drugs in the 1990-1993 period, were successfully treated with a liposomal amphotericin B regimen. From bone-marrow aspirate samples, 138 Leishmania cultures were obtained in EMTM and Sloppy Evans' media, of which 134 have been typed by the electrophoretic analysis of 13 isoenzymes. Two zymodemes (Z) of L. infantum were routinely identified over the study period, ZMON-1 (the commonest zymodeme in the Mediterranean area) and ZMON-72

  14. What becomes of infantile traumatic memories? An adult "wild child" is asked to remember.

    PubMed

    Terr, Lenore C

    2013-01-01

    A severely traumatized child, acting like a wild animal, was removed from her parents at thirteen months of age when her three-week-old sister was found, bitten and shaken to death. (Her father was later convicted of manslaughter and imprisoned.) The older child was also covered with bite marks. When she was twenty-nine months old, this child, whom I call "Cammie," was brought to me from miles away by herfoster parents for once-monthly psychotherapy. I have treated her, stressing abreaction, context, and correction, once a month ever since. When she was five years old Cammie's foster family adopted her. She is now twenty-two. I call her the "wild child" because of the growly voice, vomiting at will, grabbing at the genitalia of strangers, and cruelties to animals that she exhibited after her rescue. Presently she attends college and is training to be a preschool teacher or an aide to pediatricians. I have taken notes on what Cammie says and does during the twenty years she has come to me. In the spring of 2011, I was asked to speak later that year about infantile memories at the Margaret Mahler Symposium, Columbia University, New York. With the organizing committee's approval, I accompanied Cammie and her adoptive mother to the October 1, 2011, meeting and asked her in front of the psychoanalytic audience to recount her oldest remembrances. She, her mother, and I spoke about the nonverbal manifestations of her memory as well. I had briefly prepared Cammie and her mother for our presentation at the Mahler Symposium, but for the most part, it was spontaneous and unrehearsed. Their comments are quoted in this article. At twenty-two the "wild child" reports no verbal memory from her first year. On the other hand, her behaviors, attitudes, and perceptions over the years have reflected what occurred to her and indicate very active nonverbal memories of the traumatic experiences. Fragments of verbal memory that she recounted in therapy between ages two and three have

  15. Infantile autism: a chronic psychosis since infancy due to synaptic pruning of the supplementary motor area.

    PubMed

    Saugstad, Letten F

    2008-01-01

    The rise in Infantile Autism, learning problems, cognitive decline with age, Alzheimer's, Parkinson's Diseases and the SIDS epidemic, has a common cause in the rising dietary deficit in Omega-3 brain-food. This paper suggests that aside from the wider concept of Autism Spectrum Disorders (ASD) and Pervasive Developmental Disorders (PDD), the rise in Infantile Autism (IA) in the last decade is the effect of deficient brain-food (Omega-3). The consequent delay of development prolongs the 2nd regressive event in infancy to pruning of the centre in the Medial Frontal Lobe System that connects Hippocampus and Cingulum. With a consequently defective Supplementary Motor Area (SMA), the Delayed Response Function is affected leading to persistent psychosis. Post-Pubertal Episodic Psychoses are associated with acute reduction of excitation, a risk of breakdown of circuitry, insufficient fill-in mechanisms, and silent spots. An acute psychosis occurs if the silent spots comprise of SMA. Only two brain areas have continuous neurogenesis, indicating their important functions: the Hippocampus and Olfactory Bulb that belongs to the Lateral Frontal Lobe System essential to survival. Concerned with necessity of action in response to the environment, it relies upon short-term memory and Acute Feedback Mechanisms influenced by emotion and motivation from the external world. In contrast, the Medial Frontal Lobe network is controlled by Feed-Forward Predictive Mechanisms related to storage of information. The Delayed Response Function is mastered at 7 months, when 2nd event occurs with pruning of axons and dendrites. An abolished or defective Delayed Response Function seriously incapacitates an individual: A defective "Social Brain" with an inability for conscious action and to communicate, predominates in IA. There is a near lack of speech, despite normal vision and hearing in the minority without marked adversity in pregnancy, at delivery or in infancy. I propose that the recent rise

  16. Infantile autism: a chronic psychosis since infancy due to synaptic pruning of the supplementary motor area.

    PubMed

    Saugstad, Letten F

    2011-01-01

    The rise in infantile autism, learning problems, cognitive decline with age, Alzheimer's, Parkinson's diseases and the SIDS epidemic, has a common cause in the rising dietary deficit in Omega-3 brain-food. This paper suggests that aside from the wider concept of autism spectrum disorders (ASD) and pervasive developmental disorders (PDD), the rise in infantile autism (IA) in the last decade is the effect of deficient brain-food (Omega-3). The consequent delay of development, prolongs the 2nd regressive event in infancy to pruning of the centre in the Medial Frontal Lobe System that connects hippocampus and singulum. With a consequently defective supplementary motor area (SMA), the Delayed Response Function is affected leading to persistent psychosis. Post-pubertal episodic psychoses are associated with acute reduction of excitation, a risk of breakdown of circuitry, insufficient fill-in mechanisms, and silent spots. An acute psychosis occurs if the silent spots compromise SMA. Only two brain areas have continuous neurogenesis, indicating their important functions: the Hippocampus and Olfactory Bulb that belongs to the lateral frontal lobe system essential to survival. Concerned with necessity of action in response to the environment, it relies upon short-term memory and acute feedback mechanisms influenced by emotion and motivation from the external world. In contrast, the medial frontal lobe network is controlled by feed-forward predictive mechanisms related to storage of information The Delayed Response Function is mastered at 7 months, when 2nd event occurs with pruning of axons and dendrites. An abolished or defective delayed response function seriously incapacitates an individual: a defective "social brain" with an inability for conscious action and to communicate, predominates in IA. There is a near lack of speech, despite normal vision and hearing in the minority without marked adversity in pregnancy, at delivery or in infancy. The recent rise in IA despite

  17. Propranolol (Hemangiol) and severe infantile haemangiomas. The drug of first choice.

    PubMed

    2015-07-01

    Haemangiomas are benign vascular tumours that generally arise in the skin during the first days of life. They usually grow for a few months before stabilising and regressing over a period of several years, sometimes leaving sequelae. Because of their size or location, some haemangiomas cause: impairment of vital functions (vision, breathing); disfigurement with major problems of self-image; painful skin ulcers; and unsightly scars. When the growth of haemangioma is likely to cause complications, treatment with oral prednisolone at a dose of 2 to 3 mg/kg per day for several months can hasten its regression but carries a risk of numerous adverse effects, including electrolyte disturbances, cardiovascular and musculoskeletal disorders, hypercorticism, behavioural disorders, immunosuppression and growth retardation. Regrowth of the haemangioma sometimes occurs after prednisolone discontinuation. Propranolol, a beta-blocker, has been authorised in the European Union for the treatment of severe infantile haemangiomas, in the form of an oral solution to be used at a dose of 3 mg/kg per day for several months. Two randomised, unblinded trials with low statistical power compared propranolol with prednisolone in respectively 19 and 30 infants treated for several months. No difference in efficacy was observed. Treatment withdrawal seemed less frequent with propranolol. Two randomised, double-blind, placebo-controlled trials tested a 6-month course of propranolol. Propranololled to tumour regression in about half of the infants in one trial but, 17 months after propranolol withdrawal, tumour regrowth occurred in about 40% of the children considered to be in clinical remission. In the other trial, the haemangiomas shrank on average by about 60% with propranolol versus 14% with placebo. The known adverse effects of propranolol differ from those of corticosteroids. They mainly consist of hypoglycaemia, bradycardia, hypotension, bronchospasm, sleep disturbances, and

  18. IGF-2 and FLT-1/VEGF-R1 mRNA levels reveal distinctions and similarities between congenital and common infantile hemangioma.

    PubMed

    Picard, Arnaud; Boscolo, Elisa; Khan, Zia A; Bartch, Tatianna C; Mulliken, John B; Vazquez, Marie Paule; Bischoff, Joyce

    2008-03-01

    Common infantile hemangioma appears postnatally, grows rapidly, and regresses slowly. Two types of congenital vascular tumors present fully grown at birth and behave differently from infantile hemangioma. These rare congenital tumors have been designated rapidly involuting congenital hemangioma (RICH) and noninvoluting congenital hemangioma (NICH). RICH and NICH are similar in appearance, location, and size, and have some overlapping histologic features with infantile hemangioma. At a molecular level, neither expresses glucose transporter-1, a diagnostic marker of infantile hemangioma. To gain further insight into the molecular differences and similarities between congenital and common hemangioma, we analyzed expression of insulin-like growth factor-2, known to be highly expressed in infantile hemangioma and VEGF-receptors, by quantitative real-time PCR, in three RICH and five NICH specimens. We show that insulin-like growth factor-2 mRNA was expressed in both RICH and NICH, at a level comparable with that detected in common hemangioma over 4 y of age. In contrast, mRNA levels for membrane-associated fms-like tyrosine-kinase receptor, also known as VEGF receptor-1, were uniformly increased in congenital hemangiomas compared with proliferating or involuting phase common hemangioma. These results provide the first evidence of the molecular distinctions and similarities between congenital and postnatal hemangioma.

  19. Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

    PubMed

    Sasaki, Masayuki; Ohba, Chihiro; Iai, Mizue; Hirabayashi, Shinichi; Osaka, Hitoshi; Hiraide, Takuya; Saitsu, Hirotomo; Matsumoto, Naomichi

    2015-05-01

    Mutations in the inositol 1,4,5-triphosphate receptor type 1 gene (ITPR1) have been identified in families with early-onset spinocerebellar ataxia type 29 (SCA29) and late-onset SCA15, but have not been found in sporadic infantile-onset cerebellar ataxia. We examined if mutations of ITPR1 are also involved in sporadic infantile-onset SCA. Sixty patients with childhood-onset cerebellar atrophy of unknown etiology and their families were examined by whole-exome sequencing. We found de novo heterozygous ITPR1 missense mutations in four unrelated patients with sporadic infantile-onset, nonprogressive cerebellar ataxia. Patients displayed nystagmus, tremor, and hypotonia from very early infancy. Nonprogressive ataxia, motor delay, and mild cognitive deficits were common clinical findings. Brain magnetic resonance imaging revealed slowly progressive cerebellar atrophy. ITPR1 missense mutations cause infantile-onset cerebellar ataxia. ITPR1-related SCA includes sporadic infantile-onset cerebellar ataxia as well as SCA15 and SCA29.

  20. Duplication 16p11.2 in a child with infantile seizure disorder.

    PubMed

    Bedoyan, Jirair K; Kumar, Ravinesh A; Sudi, Jyotsna; Silverstein, Faye; Ackley, Todd; Iyer, Ramaswamy K; Christian, Susan L; Martin, Donna M

    2010-06-01

    Submicroscopic recurrent 16p11.2 rearrangements are associated with several neurodevelopmental disorders, including autism, mental retardation, and schizophrenia. The common 16p11.2 region includes 24 known genes, of which 22 are expressed in the developing human fetal nervous system. As yet, the mechanisms leading to neurodevelopmental abnormalities and the broader phenotypes associated with deletion or duplication of 16p11.2 have not been clarified. Here we report a child with spastic quadriparesis, refractory infantile seizures, severe global developmental delay, hypotonia, and microcephaly, and a de novo 598 kb 16p11.2 microduplication. Family history is negative for any of these features in parents and immediate family members. Sequencing analyses showed no mutations in DOC2A, QPRT, and SEZ6L2, genes within the duplicated 16p11.2 region that have been implicated in neuronal function and/or seizure related phenotypes. The child's clinical course is consistent with a rare seizure disorder called malignant migrating partial seizure disorder of infancy, raising the possibility that duplication or disruption of genes in the 16p11.2 interval may contribute to this severe disorder. PMID:20503337

  1. Endothelial and circulating C19MC microRNAs are biomarkers of infantile hemangioma

    PubMed Central

    Strub, Graham M.; Kirsh, Andrew L.; Whipple, Mark E.; Kuo, Winston P.; Keller, Rachel B.; Kapur, Raj P.; Majesky, Mark W.; Perkins, Jonathan A.

    2016-01-01

    Infantile hemangioma (IH) is the most common vascular tumor of infancy, and it uniquely regresses in response to oral propranolol. MicroRNAs (miRNAs) have emerged as key regulators of vascular development and are dysregulated in many disease processes, but the role of miRNAs in IH growth has not been investigated. We report expression of C19MC, a primate-specific megacluster of miRNAs expressed in placenta with rare expression in postnatal tissues, in glucose transporter 1–expressing (GLUT-1–expressing) IH endothelial cells and in the plasma of children with IH. Tissue or circulating C19MC miRNAs were not detectable in patients having 9 other types of vascular anomalies or unaffected children, identifying C19MC miRNAs as the first circulating biomarkers of IH. Levels of circulating C19MC miRNAs correlated with IH tumor size and propranolol treatment response, and IH tissue from children treated with propranolol or from children with partially involuted tumors contained lower levels of C19MC miRNAs than untreated, proliferative tumors, implicating C19MC miRNAs as potential drivers of IH pathogenesis. Detection of C19MC miRNAs in the circulation of infants with IH may provide a specific and noninvasive means of IH diagnosis and identification of candidates for propranolol therapy as well as a means to monitor treatment response. PMID:27660822

  2. [Frequency of congenital anomalies at the Instituto Materno Infantil, Bogota, Colombia].

    PubMed

    García, Herbert; Salguero, Gustavo Andrés; Moreno, Jeffer; Arteaga, Clara; Giraldo, Alejandro

    2003-06-01

    At the Instituto Materno Infantil (IMI) in Bogotá (Colombia), 5,686 births (5,597 live births and 89 stillbirths) were analyzed during two periods: from October, 1997, to April, 1998, and from July to November, 2000 (12 months). Congenital anomalies were detected in 4.4% of live newborn babies and in 7.8% of stillbirths. Major anomalies corresponded to 69% and mild anomalies to 31% (3% and 1.4% of all live births, respectively). The newborn babies with major anomalies, in comparison to the normal controls, had higher mortality at hospital discharge (p = 0.0001), lower average birth weight (p = 0.003), and family history of congenital anomalies (p = 0.0001). The only significant association for mild anomalies was with family history of congenital anomalies (p = 0.0001). The frequency of congenital anomalies was similar to that in other studies, although certain kinds of anomalies showed noticeable frequency differences. This may be a consequence of differences in record keeping or in detection methods.

  3. Retinoblastoma diagnosis: a proposal based on the experience of Centro Infantil Boldrini, Brazil.

    PubMed

    Palazzi, Maristela A; Stephan, Celso; Brandalise, Silvia R; Aguiar, Simone Dos Santos

    2013-08-01

    Advanced disease is a risk factor for eye loss in patients with retinoblastoma (RB). We still record critical rates of enucleation, especially for unilateral RB due to advanced stages of disease at diagnosis. This retrospective study of 223 RB patient records referred to treatment at Centro Infantil Boldrini, Brazil, between 1978 and 2008, showed that 176 patients (79%) presented intraocular tumors while 47 (21%) already had extraocular involvement. At the time of diagnosis, the age of patients was 26.2 months in the group that had enucleated eyes and 13.7 months in the group that preserved both eyes. Under a multiple logistic regression model, familial history (OR = 0.195; p = .01) and age at diagnosis in months (OR = 1.047; p = .04) were significantly correlated with enucleation. Strategies to early detect RB must be changed in order to offer better chances of ocular preservation with visual function. Authors propose a systematic referral of all children to the ophthalmologist for an indirect ophthalmoscopy once a year in the first two years of life, as a measure to be adopted by all pediatricians in daily routine to early detect the tumor.

  4. Association study with two markers of a human homeogene in infantile autism.

    PubMed Central

    Petit, E; Hérault, J; Martineau, J; Perrot, A; Barthélémy, C; Hameury, L; Sauvage, D; Lelord, G; Müh, J P

    1995-01-01

    Epidemiological data and family studies in autism show that there is a genetic susceptibility factor in the aetiology of this syndrome. We carried out an association study in infantile autism. Two markers of the homeogene EN2 involved in cerebellar development were tested in a population of 100 autistic children and in a population of 100 control children. With the MP4 probe showing a PvuII polymorphism, significant differences in the allele frequencies between the two populations were found (chi 2 = 7.99, df = 1, p < 0.01). With the MP5 probe showing an SstI polymorphism, no difference appeared (chi 2 = 1.17, not significant). Several clinical examinations allowed us to characterise the autistic children. Most of them had high scores for autistic behaviour and language disorders but low scores for neurological syndromes. Two children had a significant family history and six children had confirmed syndromes or diseases of genetic origin. Discriminant analysis between clinical and molecular data did not give significant results. These preliminary results must be supported by further analyses of this gene and by studies of its potential involvement in the pathophysiology of the autistic syndrome. PMID:7643354

  5. Topical timolol maleate for treatment of infantile haemangiomas: preliminary results of a prospective study.

    PubMed

    Semkova, K; Kazandjieva, J

    2013-03-01

    An infantile haemangioma (IH) is a benign tumour of infancy. The standard approach to uncomplicated lesions is 'wait and see', but active intervention is sometimes preferred to avoid the unpredictable risk of cosmetic disfigurement. Topical beta-blockers were recently introduced as an effective alternative in such cases, but data are still lacking. We report the initial phase of a prospective study evaluating the efficacy and safety of topical timolol gel for IH, and present the interim analysis of the first 25 patients who completed a 6-month course of treatment. These 25 patients, with 39 localized, superficial haemangiomas, were treated with timolol 0.1% gel for 6 months and evaluated at 4-week intervals using the Physician's Global Assessment Score; the mean change was an 85% improvement from baseline, and complete clearance was achieved in four children. The treatment was more effective for plaque than for nodular lesions, and for proliferating than for involuting lesions. No side-effects were seen or reported. These early data confirm that timolol is a very effective and relatively safe treatment for small, localized, superficial IHs.

  6. Efficacy of Topical Timolol as Primary Monotherapy in Cutaneous Facial Infantile Hemangiomas.

    PubMed

    Ng, Zhi Yang; Kang, Gavin Chun-Wui; Chang, Chun-Shin; Por, Yong Chen

    2016-09-01

    Recent studies have shown that infantile hemangiomas (IHs) undergo a rapid growth phase between 5.5 and 7.5 weeks of life and do not usually proliferate beyond 6 months; growth thereafter is usually proportionate to the child's growth. This review assesses the evidence for topical timolol as primary monotherapy for cutaneous facial IHs before 12 months of age, and to determine the differences in outcome between early (before 6 months) and late initiation (after 6 months) of timolol. A review of English language articles published up to November 2015 was performed using selected key words. Articles identified were further reviewed for relevance. The full text of studies included for final analysis was perused to include pertinent patient details, treatment protocol with timolol, complications (if any) reported, and response to treatment. Four studies met the inclusion criteria. In children before 12 months of age, the efficacy of topical timolol for the treatment of cutaneous facial IHs in achieving clinically significant improvement as defined by a standardized Global Assessment Score score of 3 and above ranged from 47% to 88%. One study also showed that IH regression was greater in patients started on timolol before 6 months of age compared with those started later (P <0.05). Topical timolol initiated in children before 12 months of age appears to be safe and clinically effective. There was insufficient data for detailed analysis of outcomes in patients who commenced treatment before and after 6 months of age.

  7. A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.

    PubMed

    Stogmann, E; El Tawil, S; Wagenstaller, J; Gaber, A; Edris, S; Abdelhady, A; Assem-Hilger, E; Leutmezer, F; Bonelli, S; Baumgartner, C; Zimprich, F; Strom, T M; Zimprich, A

    2009-02-01

    Neuronal ceroid lipofuscinoses (NCL) are lysosomal storage disorders and constitute the most common group of progressive neurodegenerative diseases in childhood. Most NCLs are inherited in a recessive manner and are clinically characterised by a variable age at onset, epileptic seizures, psychomotor decline, visual impairment and premature death. To date, eight causative genes have been identified to underlie various clinical forms of NCL. We performed a genome-wide linkage analysis followed by sequencing the recently described NCL gene MFSD8 in three affected and three unaffected members of a consanguineous Egyptian family with an autosomal recessively inherited progressive neurodegenerative disorder. The clinical picture of the patients was compatible with a late infantile NCL (LINCL); however, impairment of the visual system was not a cardinal symptom in the respective family. By linkage analysis, we identified two putative loci on chromosome 1p36.11-p35.1 and 4q28.1-q28.2. The latter locus (4q28.1-q28.2) contained the MFSD8 gene, comprising a novel homozygous missense mutation in exon 5 (c.362a>g /p.Tyr121Cys), which segregated with the disease in the three affected sibs. We describe a novel mutation in the previously identified MFSD8 gene in a family with a common phenotype of LINCL, but no clinical report of vision loss. Our results enlarge the mutational and perhaps the nosological spectrum of one of the recently identified subtypes of NCL, called CLN7. PMID:18850119

  8. Using health games for rehabilitation of patients with infantile cerebral palsy

    PubMed Central

    Lee, Wan-Chen; Reyes-Fernández, Miriam C.; Posada-Gómez, Rubén; Juárez-Martínez, Ulises; Martínez-Sibaja, Albino; Alor-Hernández, Giner

    2016-01-01

    [Purpose] The purposes of this study were to evaluate whether the therapeutic games developed by the study team are significantly effective for upper limb rehabilitation of patients with cerebral palsy and to assess the development of the games and the evolution of patients throughout the therapy sessions. [Subjects and Methods] This study demonstrates the results of using therapeutic games in patients with infantile cerebral palsy. The therapies were performed in 30-minute sessions for about 1 to 4 months. This study shows the progress of five children with cerebral palsy during the sessions. The time it took the children on each road and the times required to complete a task were measured. In addition, the level of difficulty of the games was gradually increased at each session. [Results] Results have shown good progress on the accuracy of the movements and an increase in concentration level during the execution of the games, showing an improvement in the patients’ performance by 40–55% faster. [Conclusions] Health games encourage children to comply with therapy. The advantage of the game is that the patient can perform the therapy at home, which could help achieve further progress in patients. PMID:27630417

  9. [Chinese experts consensus on the use of oral propranolol for treatment of infantile hemangiomas].

    PubMed

    Zheng, Jia-Wei; Wang, Xu-Kai; Qin, Zhong-Ping; Fan, Xin-Dong; Li, Kai; Yang, Yao-Wu; Huo, Ran; Liu, Shao-Hua; Zhao, Ji-Hong; Wang, Xiao-Yong; Zhou, De-Kai

    2016-06-01

    Infantile hemangioma (IH) is one of the most common benign vascular tumors in children. A variety of treatment methods have been documented for the management of IH over the past years, including pharmacotherapy via oral administration or injection of corticosteroids, vincristine, alpha interferon and bleomycin; laser therapy, radionuclide therapy, cryotherapy and excisional surgery. The therapeutic efficacy of each treatment modality is variable, while adverse effects or complications are common and sometimes serious. Since the serendipitous discovery of propranolol, a nonselective beta-adrenergic receptor blocker, being very efficacious in treating IH in 2008, oral propranolol has earned a role as a first-line medical therapy for complicated IH. However, the appropriate drug dosage, dosing regimen, time for initiation, optimal duration, monitoring for side effects remains controversial. To standardize the use of propranolol in treating IH, avoid overtreatment or under-treatment, as well as minimize complications, a Chinese experts consensus on the use of oral propranolol for treatment of IH has been approved and written by a multidisciplinary experts group based on an up-to-date literature review and repeated discussion. PMID:27609372

  10. Characterizing infantile hemangiomas with a near-infrared spectroscopic handheld wireless device

    NASA Astrophysics Data System (ADS)

    Fong, Christopher J.; Hoi, Jennifer W.; Kim, Hyun K.; Behr, Gerald; Geller, Lauren; Antonov, Nina; Flexman, Molly; Garzon, Maria; Hielscher, Andreas H.

    2015-03-01

    Infantile hemangiomas (IH) are common vascular growths that occur in 5-10% of neonates and have the potential to cause disfiguring and even life-threatening complications. Currently, no objective tool exist to monitor either progression or treatment of IH. To address this unmet clinical need, we have developed a handheld wireless device (HWD) that uses diffuse optical spectroscopy for the assessment of IH. The system employs 4 wavelengths (l=780nm, 805nm, 850nm, and 905nm) and 6 source-detector pairs with distances between 0.6 and 20 mm. Placed on the skin surface, backreflection data is obtained and a multispectral evolution algorithm is used to determine total hemoglobin concentration and tissue oxygen saturation. First results of an ongoing pilot study involving 13 patients (average enrollment age = 25 months) suggest that an increase in hypoxic stress over time can lead to the proliferation of IH. Involuting IH lesions showed an increase in tissue oxygen saturation as well as a decrease in total hemoglobin.

  11. Using health games for rehabilitation of patients with infantile cerebral palsy

    PubMed Central

    Lee, Wan-Chen; Reyes-Fernández, Miriam C.; Posada-Gómez, Rubén; Juárez-Martínez, Ulises; Martínez-Sibaja, Albino; Alor-Hernández, Giner

    2016-01-01

    [Purpose] The purposes of this study were to evaluate whether the therapeutic games developed by the study team are significantly effective for upper limb rehabilitation of patients with cerebral palsy and to assess the development of the games and the evolution of patients throughout the therapy sessions. [Subjects and Methods] This study demonstrates the results of using therapeutic games in patients with infantile cerebral palsy. The therapies were performed in 30-minute sessions for about 1 to 4 months. This study shows the progress of five children with cerebral palsy during the sessions. The time it took the children on each road and the times required to complete a task were measured. In addition, the level of difficulty of the games was gradually increased at each session. [Results] Results have shown good progress on the accuracy of the movements and an increase in concentration level during the execution of the games, showing an improvement in the patients’ performance by 40–55% faster. [Conclusions] Health games encourage children to comply with therapy. The advantage of the game is that the patient can perform the therapy at home, which could help achieve further progress in patients.

  12. Epilepsy in disintegrative psychosis and infantile autism: a long-term validation study.

    PubMed

    Mouridsen, S E; Rich, B; Isager, T

    1999-02-01

    This study aimed to investigate the validity of disintegrative psychosis (DP) as defined in the ICD-9. The history of epilepsy in 13 subjects with DP was compared with that of 39 subjects with infantile autism (IA) who were matched for sex, age, IQ, and socioeconomic status (SES). The average follow-up time was 22 and 23 years (range 11 to 33 years). A significant difference was found between the DP and IA groups in terms of incidence of epilepsy, 77% versus 33% respectively. The peak period of onset of epilepsy occurred before puberty in both groups. Different types of epilepsy were seen, but the psychomotor variant accounted for 50% in the DP group, while 46% of the IA group had the psychomotor and 62% had the grand mal variant. The types are not mutually exclusive. Individuals without epilepsy had significantly higher IQ scores than those with epilepsy, but only within the IA group. The increased risk of developing epilepsy in the DP group is most likely a reflection of an underlying early brain pathology probably present in most individuals with DP. On the whole our findings can be seen as a contribution to the validation of DP as separate from IA, as these two conditions could be distinguished in terms of the way they develop with reference to epilepsy.

  13. The presence of two different infantile Tay-Sachs disease mutations in a Cajun population

    SciTech Connect

    McDowell, G.A.; Blitzer, M.G. ); Mules, E.H. ); Fabacher, P. ); Shapira, E. )

    1992-11-01

    A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the [beta]-hexosaminidase A (Hex A) [alpha]-subunit exon 11 insertion mutation that is present in approximately 70% of Ashkenazi Jewish TSD heterozygotes. The mutation in the remaining allele was a single-base transition in the donor splice site of the [alpha]-subunit intron 9. To determine the origins of these two mutations in the Cajun population, the TSD carrier status was enzymatically determined for 90 members of four of the six families, and extensive pedigrees were constructed for all carriers. A single ancestral couple from France was found to be common to most of the carriers of the exon 11 insertion. Pedigree data suggest that this mutation has been in the Cajun population since its founding over 2 centuries ago and that it may be widely distributed within the population. In contrast, the intron 9 mutation apparently was introduced within the last century and probably is limited to a few Louisiana families. 29 refs., 4 figs.

  14. Endothelial and circulating C19MC microRNAs are biomarkers of infantile hemangioma.

    PubMed

    Strub, Graham M; Kirsh, Andrew L; Whipple, Mark E; Kuo, Winston P; Keller, Rachel B; Kapur, Raj P; Majesky, Mark W; Perkins, Jonathan A

    2016-01-01

    Infantile hemangioma (IH) is the most common vascular tumor of infancy, and it uniquely regresses in response to oral propranolol. MicroRNAs (miRNAs) have emerged as key regulators of vascular development and are dysregulated in many disease processes, but the role of miRNAs in IH growth has not been investigated. We report expression of C19MC, a primate-specific megacluster of miRNAs expressed in placenta with rare expression in postnatal tissues, in glucose transporter 1-expressing (GLUT-1-expressing) IH endothelial cells and in the plasma of children with IH. Tissue or circulating C19MC miRNAs were not detectable in patients having 9 other types of vascular anomalies or unaffected children, identifying C19MC miRNAs as the first circulating biomarkers of IH. Levels of circulating C19MC miRNAs correlated with IH tumor size and propranolol treatment response, and IH tissue from children treated with propranolol or from children with partially involuted tumors contained lower levels of C19MC miRNAs than untreated, proliferative tumors, implicating C19MC miRNAs as potential drivers of IH pathogenesis. Detection of C19MC miRNAs in the circulation of infants with IH may provide a specific and noninvasive means of IH diagnosis and identification of candidates for propranolol therapy as well as a means to monitor treatment response. PMID:27660822

  15. Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

    PubMed Central

    Messinger, Yoav H.; Mendelsohn, Nancy J.; Rhead, William; Dimmock, David; Hershkovitz, Eli; Champion, Michael; Jones, Simon A.; Olson, Rebecca; White, Amy; Wells, Cara; Bali, Deeksha; Case, Laura E.; Young, Sarah P.; Rosenberg, Amy S.; Kishnani, Priya S.

    2013-01-01

    Purpose Infantile Pompe disease resulting from a deficiency of lysosomal acid α-glucosidase (GAA) requires enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA). Cross-reactive immunologic material negative (CRIM-negative) Pompe patients develop high-titer antibody to the rhGAA and do poorly. We describe successful tolerance induction in CRIM-negative patients. Methods Two CRIM-negative patients with preexisting anti-GAA antibodies were treated therapeutically with rituximab, methotrexate, and gammaglobulins. Two additional CRIM-negative patients were treated prophylactically with a short course of rituximab and methotrexate, in parallel with initiating rhGAA. Results In both patients treated therapeutically, anti-rhGAA was eliminated after 3 and 19 months. All four patients are immune tolerant to rhGAA, off immune therapy, showing B-cell recovery while continuing to receive ERT at ages 36 and 56 months (therapeutic) and 18 and 35 months (prophylactic). All patients show clinical response to ERT, in stark contrast to the rapid deterioration of their nontolerized CRIM-negative counterparts. Conclusion The combination of rituximab with methotrexate ± intravenous gammaglobulins (IVIG) is an option for tolerance induction of CRIM-negative Pompe to ERT when instituted in the naïve setting or following antibody development. It should be considered in other conditions in which antibody response to the therapeutic protein elicits robust antibody response that interferes with product efficacy. PMID:22237443

  16. Genomic Imprinting of IGF2 Is Maintained in Infantile Hemangioma despite its High Level of Expression

    PubMed Central

    Yu, Ying; Wylie-Sears, Jill; Boscolo, Elisa; Mulliken, John B; Bischoff, Joyce

    2004-01-01

    Hemangioma, the most common tumor of infancy, is characterized by rapid growth and slow regression. Increased mRNA expression of insulin-like growth factor 2 (IGF2) has been detected in the proliferating phase by cDNA microarray analysis, but the underlying mechanism causing the increase remains unknown. Here, using quantitative real-time polymerase chain reaction (PCR) and immunohistochemistry, we show that IGF2 is highly expressed in both proliferating and involuting phase hemangioma, but is not detectable in other vascular lesions such as pyogenic granuloma, venous malformation, lymphatic malformation, or in normal infant skin. Loss of imprinting of the Igf2 gene has been associated with IGF2 overexpression in a variety of childhood tumors. To determine if loss of imprinting and consequent bi-allelic expression might contribute to the increased expression of IGF2, we examined the genomic imprinting status of Igf2 in 48 individual hemangiomas. We determined allele-specific Igf2 expression using reverse transcriptase–PCR combined with analysis of an Apa I–sensitive restriction fragment length polymorphism. Similar to heterozygous normal skin controls, all 15 informative hemangiomas showed uniform mono-allelic expression of Igf2. Therefore, loss of imprinting is not involved in the increased expression of IGF2 in infantile hemangioma. PMID:15706404

  17. Infantile Hepatic Hemangioendothelioma Associated With Congestive Heart Failure: Two Case Reports With Different Outcomes.

    PubMed

    Wang, Tao; Wang, Yibin; Liang, Yun; Lu, Guoyan

    2015-12-01

    Infantile hepatic hemangioendothelioma (IHH) is rare which can regress spontaneously. Arteriovenous shunts within hemangiomas, however, may result in pulmonary artery hypertension (PAH) and congestive heart failure (CHF).The authors report 2 young infants suffering from multifocal IHH associated with CHF were both treated with glucocorticoid and transcatheter arterial embolization (TAE), but had different outcomes. The PAH decreased immediately and the symptoms of CHF were alleviated after TAE for both of them. For the Tibetan infant, the development was normal with tumor regression by follow-up. For the Han ethnic neonate, PAH increased again in the seventh day with progressive cardiovascular insufficiency. Ultrasound showed a persisting perfusion caused by collateralization around occluded main feeders. Furthermore, a pulmonary infection occurred and ventilation was performed. As a result, the infant died from multiorgan failure caused by CHF and infection.TAE is a treatment of reducing shunting for hemangiomas. Fistula recanalization in multifocal IHH, however, might be an important risk factor affecting the outcome of TAE. TAE should be further evaluated with special attention to anatomy of feeding and draining vessels, and cardiopulmonary conditions. In addition, the patients were susceptible to secondary pulmonary infection because of lung congestion. As well, the infant from the high altitude area showed better adaptability to hypoxia.

  18. Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD).

    PubMed

    Gucev, Zoran; Tasic, Velibor

    2015-01-01

    Krabbe disease (KD) (globoid cell leukodystrophy) is a degenerative, lysosomal storage disease, caused by a severe loss of galactocerebrosidase (GALC) enzymatic activity. The inheritance is autosomal recessive. KD affects the white matter of the central and peripheral nervous systems. We present a 3 year old boy in whom the disease had an 'infantile' or 'classic' presentation, with spasticity, irritability, and developmental delay. In addition the boy showed progressive severe motor and mental deterioration, difficulties in swallowing and decerebration. Molecular analysis revealed that the child is a compound heterozygote: p.Asp187Val (c.560A>T) and p.Ile250Thr (c.749T>C). The father was the carrier of p.Asp187Val (c.560A>T), while the mother was the carrier of the p.Ile250Thr (c.749T>C) in exon 6 of the GALC gene. The clinical course in this compound heterozygote is severe and the patient passed away at the age of 3 years. Genotype-phenotype relations are discussed in this Macedonian patient with KD. PMID:27442402

  19. Native and Complexed IGF-1: Biodistribution and Pharmacokinetics in Infantile Neuronal Ceroid Lipofuscinosis

    PubMed Central

    Huhtala, Tuulia; Rytkönen, Jussi; Jalanko, Anu; Kaasalainen, Martti; Salonen, Jarno; Riikonen, Raili; Närvänen, Ale

    2012-01-01

    Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative disorder of childhood characterized by selective death of cortical neurons. Insulin-like growth factor 1 (IGF-1) is important in embryonic development and is considered as a potential therapeutic agent for several disorders of peripheral and central nervous systems. In circulation IGF-1 is mainly bound to its carrier protein IGFBP-3. As a therapeutic agent IGF-1 has shown to be more active as free than complexed form. However, this may cause side effects during the prolonged treatment. In addition to IGFBP-3 the bioavailability of IGF-1 can be modulated by using mesoporous silicon nanoparticles (NPs) which are optimal carriers for sustained release of unstable peptide hormones like IGF-1. In this study we compared biodistribution, pharmacokinetics, and bioavailability of radiolabeled free IGF-1, IGF-1/IGFBP-3, and IGF-1/NP complexes in a Cln1-/- knockout mouse model. IGF-1/NP was mainly accumulated in liver and spleen in all studied time points, whereas minor and more constant amounts were measured in other organs compared to free IGF-1 or IGF-1/IGFBP-3. Also concentration of IGF-1/NP in blood was relatively high and stable during studied time points suggesting continuous release of IGF-1 from the particles. PMID:22778966

  20. Development of a mouse model of infantile spasms induced by N-methyl-D-aspartate.

    PubMed

    Shi, Xiu-Yu; Yang, Xiao-Fan; Tomonoh, Yuko; Hu, Lin-Yan; Ju, Jun; Hirose, Shinichi; Zou, Li-Ping

    2015-12-01

    Using N-methyl-D-aspartate (NMDA) injection, we attempt to develop a mouse model for infantile spasms (IS). Experiments were performed in postnatal 11- to 13-day-old C57 and Balbc mice. In the pilot experiment, mice were injected with different doses of NMDA (7, 15, and 30 mg/kg) to determine the optimal age and convulsant doses of NMDA. In further experiment optimal age mice were divided into five groups: group A, control group that received intraperitoneal injection of physiological saline; group B, convulsion group that was given intraperitoneal NMDA; group C, pretreatment group that received adrenocorticotropin (ACTH) injection (100 IU/kg) 30 min before NMDA administration; group D, electroencephalogram (EEG) group that received EEG recording, group E, performance group that received motor and learning test at different time point after NMDA administration. The behaviors of each group were observed continuously for 3h, the latency and the total numbers of spasms were recorded. Pilot experiments showed that a 15 mg/kg dose of NMDA could induce typical spasm-like seizures in P13 C57 mice, NMDA administration caused anxiety and deficits in motor and cognitive functions at early time and that large doses of ACTH reduced the number of seizures and rating scale (P<0.05). The NMDA mouse model has the following characteristics: age dependency, spasm-like seizures, cognitive impairment and response to ACTH, which fulfills the criteria of an IS model. PMID:26600368

  1. Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

    PubMed

    Dimassi, S; Labalme, A; Ville, D; Calender, A; Mignot, C; Boutry-Kryza, N; de Bellescize, J; Rivier-Ringenbach, C; Bourel-Ponchel, E; Cheillan, D; Simonet, T; Maincent, K; Rossi, M; Till, M; Mougou-Zerelli, S; Edery, P; Saad, A; Heron, D; des Portes, V; Sanlaville, D; Lesca, G

    2016-02-01

    Infantile spasms syndrome (ISs) is characterized by clinical spasms with ictal electrodecrement, usually occurring before the age of 1 year and frequently associated with cognitive impairment. Etiology is widely heterogeneous, the cause remaining elusive in 40% of patients. We searched for de novo mutations in 10 probands with ISs and their parents using whole-exome sequencing (WES). Patients had neither consanguinity nor family history of epilepsy. Common causes of ISs were excluded by brain magnetic resonance imaging (MRI), metabolic screening, array-comparative genomic hybridization (CGH) and testing for mutations in CDKL5, STXBP1, and for ARX duplications. We found a probably pathogenic mutation in four patients. Missense mutations in SCN2A (p.Leu1342Pro) and KCNQ2 (p.Ala306Thr) were found in two patients with no history of epilepsy before the onset of ISs. The p.Asn107Ser missense mutation of ALG13 had been previously reported in four females with ISs. The fourth mutation was an in-frame deletion (p.Phe110del) in NR2F1, a gene whose mutations cause intellectual disability, epilepsy, and optic atrophy. In addition, we found a possibly pathogenic variant in KIF3C that encodes a kinesin expressed during neural development. Our results confirm that WES improves significantly the diagnosis yield in patients with sporadic ISs. PMID:26138355

  2. Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.

    PubMed

    Duszyc, Kinga; Terczynska, Iwona; Hoffman-Zacharska, Dorota

    2015-02-01

    Epilepsy in females with mental retardation (EFMR) is a rare early infantile epileptic encephalopathy (EIEE), phenotypically resembling Dravet syndrome (DS). It is characterised by a variable degree of intellectual deficits and epilepsy. EFMR is caused by heterozygous mutations in the PCDH19 gene (locus Xq22.1) encoding protocadherin-19, a protein that is highly expressed during brain development. The protein is involved in cell adhesion and probably plays an important role in neuronal migration and formation of synaptic connections. EFMR is considered X-linked of variable mutations' penetrance. Mutations in the PCDH19 gene mainly arise de novo, but if inherited, they show a unique pattern of transmission. Females with heterozygous mutations are affected, while hemizygous males are not, regardless of mutation carriage. This singular mode might be explained by cell interference as a pathogenic molecular mechanism leading to neuronal dysfunction. Recently, PCDH19-related EIEE turned out to be more frequent than initially thought, contributing to around 16% of cases (25% in female groups) in the SCN1A-negative DS-like patients. Therefore, the PCDH19 gene is now estimated to be the second, after SCN1A, most clinically relevant gene in epilepsy.

  3. Endothelial and circulating C19MC microRNAs are biomarkers of infantile hemangioma

    PubMed Central

    Strub, Graham M.; Kirsh, Andrew L.; Whipple, Mark E.; Kuo, Winston P.; Keller, Rachel B.; Kapur, Raj P.; Majesky, Mark W.; Perkins, Jonathan A.

    2016-01-01

    Infantile hemangioma (IH) is the most common vascular tumor of infancy, and it uniquely regresses in response to oral propranolol. MicroRNAs (miRNAs) have emerged as key regulators of vascular development and are dysregulated in many disease processes, but the role of miRNAs in IH growth has not been investigated. We report expression of C19MC, a primate-specific megacluster of miRNAs expressed in placenta with rare expression in postnatal tissues, in glucose transporter 1–expressing (GLUT-1–expressing) IH endothelial cells and in the plasma of children with IH. Tissue or circulating C19MC miRNAs were not detectable in patients having 9 other types of vascular anomalies or unaffected children, identifying C19MC miRNAs as the first circulating biomarkers of IH. Levels of circulating C19MC miRNAs correlated with IH tumor size and propranolol treatment response, and IH tissue from children treated with propranolol or from children with partially involuted tumors contained lower levels of C19MC miRNAs than untreated, proliferative tumors, implicating C19MC miRNAs as potential drivers of IH pathogenesis. Detection of C19MC miRNAs in the circulation of infants with IH may provide a specific and noninvasive means of IH diagnosis and identification of candidates for propranolol therapy as well as a means to monitor treatment response.

  4. Infantile granular parakeratosis: cytologic examination of superficial scrapings as an aid to diagnosis.

    PubMed

    Akkaya, A Deniz; Oram, Yasemin; Aydın, Özlem

    2015-01-01

    Granular parakeratosis (GP) is a benign disorder of keratinization presenting with unilateral or bilateral red to brown hyperkeratotic plaques and papules at the intertriginous areas. The first pediatric case of GP was reported in 2002, and only a few cases have been reported since. Although the exact etiology of GP is unknown, it is thought that certain environmental factors compromise the epidermal barrier and lead to proliferation and altered maturation of the epidermis in predisposed individuals. The histopathology is diagnostic and reveals parakeratosis together with retention of keratohyalin granules within a disproportionately thickened stratum corneum and usually the preservation of stratum granulosum. Herein we report seven cases of infantile GP, six of which also had atopic dermatitis. Cytologic examination confirmed our clinical diagnosis by demonstrating the retention of keratohyalin granules and preservation of the nuclei from the superficial scrapings of the lesions, which we propose as a novel diagnostic technique. In all seven cases the lesions developed after the overuse of topical products and resolved with avoidance of their excessive use. We propose that atopic skin may be more prone to develop GP because the epidermal barrier is disrupted, resulting in the enhanced transepidermal penetration of topical products. In conclusion, GP should be included in the differential diagnosis of diaper area eruptions, especially in atopic children. Cytologic examination of superficial scrapings of the lesions can easily confirm the diagnosis of GP. PMID:25660113

  5. A rare cause of death in infancy: idiopathic infantile arterial calcification.

    PubMed

    Amine, M; Faten, H; Rim, H; Nidhal, H S; Njim, L; Moussa, A; Zakhama, A

    2015-03-01

    The aim of this paper is to report the autopsy findings of an Idiopathic Infantile Arterial Calcification-new-born male and describe its follow-up. Y.R, a 23-days-old male, hasn't any relevant personal past medical or family history. The baby was weighing 3.2 kg at birth. He was breast fed and appeared to be perfectly normal. In the last 24 hours, he presented to the family doctor with vomitis, refuse of feeds without fever or diarrhea. He was diagnosed as having gastroenteritis and was medicated accordingly. A few hours later, he had an hematemese episode associated with facial cyanosis. Death occurred despite cardio-pulmonary resuscitation. Forensic autopsy was required. The macroscopic examination showed a bilateral pleural liquid effusion without any other abnormalities. Microscopic investigation revealed a generalized arterial calcification of all organs. Idiopathic arterial calcification is primarily a disease of infancy. It is characterized pathologically by generalized arterial calcification within the internal elastic lamina, associated with intimal fibrous proliferation. Death occur often in the first sixth months due to heart failure. PMID:26591630

  6. Infantile nystagmus syndrome: clinical characteristics, current theories of pathogenesis, diagnosis, and management.

    PubMed

    Richards, Michael D; Wong, Agnes

    2015-12-01

    Infantile nystagmus syndrome (INS) is an important clinical diagnosis because it is a common presenting sign of many ocular, neurologic, and systemic diseases. Although INS has been studied for more than a century, its diagnosis and treatment remains a challenge to clinicians because of its varied manifestations and multiple associations, and its pathogenesis continues to rouse considerable scientific debate. Fueled by these challenges, recent basic research and clinical investigations have provided new insights into INS. New genetic discoveries and technological advances in ocular imaging have refined our understanding of INS subtypes and offer new diagnostic possibilities. Unexpected surgical outcomes have led to new understanding of its pathogenesis based on novel hypothesized pathways of ocular motor control. Comparative studies on nonhuman visual systems have also informed models of the neural substrate of INS in humans. This review brings together the classic profile of this disorder with recent research to provide an update on the clinical features of INS, an overview of the current theories on how and why INS develops, and a practical approach to the diagnosis and management of INS.

  7. Using health games for rehabilitation of patients with infantile cerebral palsy.

    PubMed

    Lee, Wan-Chen; Reyes-Fernández, Miriam C; Posada-Gómez, Rubén; Juárez-Martínez, Ulises; Martínez-Sibaja, Albino; Alor-Hernández, Giner

    2016-08-01

    [Purpose] The purposes of this study were to evaluate whether the therapeutic games developed by the study team are significantly effective for upper limb rehabilitation of patients with cerebral palsy and to assess the development of the games and the evolution of patients throughout the therapy sessions. [Subjects and Methods] This study demonstrates the results of using therapeutic games in patients with infantile cerebral palsy. The therapies were performed in 30-minute sessions for about 1 to 4 months. This study shows the progress of five children with cerebral palsy during the sessions. The time it took the children on each road and the times required to complete a task were measured. In addition, the level of difficulty of the games was gradually increased at each session. [Results] Results have shown good progress on the accuracy of the movements and an increase in concentration level during the execution of the games, showing an improvement in the patients' performance by 40-55% faster. [Conclusions] Health games encourage children to comply with therapy. The advantage of the game is that the patient can perform the therapy at home, which could help achieve further progress in patients.

  8. The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis.

    PubMed

    Macauley, Shannon L; Pekny, Milos; Sands, Mark S

    2011-10-26

    Infantile neuronal ceroid lipofuscinosis (INCL) is an inherited neurodegenerative disorder affecting the CNS during infancy. INCL is caused by mutations in the CLN1 gene that lead to a deficiency in the lysosomal hydrolase, palmitoyl protein thioesterase 1 (PPT1). A murine model of INCL, the PPT1-deficient (PPT1(-/-)) mouse, is an accurate phenocopy of the human disease. The first pathological change observed in the PPT1(-/-) brain is regional areas of glial fibrillary acidic protein (GFAP) upregulation, which predicts future areas of neurodegeneration. We hypothesized that preventing GFAP and vimentin upregulation in reactive astrocytes will alter the CNS disease. To test this hypothesis, we generated mice simultaneously carrying null mutations in the GFAP, Vimentin, and PPT1 genes (GFAP(-/-)Vimentin(-/-)PPT1(-/-)). Although the clinical and pathological features of the GFAP(-/-)Vimentin(-/-)PPT1(-/-) mice are similar to INCL, the disease appears earlier and progresses more rapidly. One mechanism underlying this accelerated phenotype is a profound neuroinflammatory response within the CNS. Thus, our data identify a protective role for intermediate filament upregulation during astrocyte activation in INCL, a model of chronic neurodegeneration.

  9. Successful use of topical "Ankaferd Blood Stopper" for repetitive bleedings in an infant with infantile hemangioma.

    PubMed

    Annagür, Ali; Altunhan, Hüseyin; Konak, Murat; Ors, Rahmi

    2012-01-01

    Infantile hemangioma (IH) is the most common vascular tumor of childhood. A major feature of this tumor is rapid growth during a proliferation phase in the first year of life, followed by contraction through a slow involution phase. Several complications may emerge during this course. Bleeding at the site of the lesion and infection are the most common complications. 'Ankaferd Blood Stopper' (ABS) is a hemostatic agent produced as a mixture of five separate plant extracts. Provision of hemostasis by ABS is independent from coagulation factors and the standard coagulation cascade. Furthermore, ABS has an antimicrobial effect. In this article, we have presented a seven-year-old infant with IH on the lower lip who had been admitted with the symptoms of frequent bleedings and infection, and who was successfully treated with topical ABS in terms of control of bleeding and infection. To the best of our knowledge, this is the first reported case of IH that has been treated with ABS for bleeding. PMID:22993655

  10. Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature

    PubMed Central

    Hammoudah, Sahar Ahmed Fathi; El-Attar, Lama Mohammed

    2016-01-01

    Summary Infantile systemic hyalinosis (ISH) (OMIM 228600) is a rare fatal autosomal recessive disorder characterized by extensive deposition of hyaline material in many tissues. Consanguinity has been recorded in many cases. Herein we present two new Saudi cases with review of the literature. Our first proband was a 9 month-old male who was the first baby for parents descended from a closed consanguineous pedigree. The second proband was a 13 month-old male who was the first baby for consanguineous parents (3rd C). Both cases presented with bilateral painful limited limb movement with joints contractures, low birth weight (< P5), severe generalized stiff skin, hyper-pigmented skin over bony prominences, fleshy perianal masses and gingival hypertrophy. The first child died at 18th month as a result of recurrent chest infections. The second proband showed a severe progressive course of joint contractures, and died at 19th month because of failure to thrive and recurrent infections. Although the clinical features of ISH are characteristic, the disease is under/miss diagnosed. The role of consanguinity needed to be highlighted to the community. Careful clinical examination and molecular diagnosis will be helpful for genetic counseling, prenatal diagnosis and early treatment. PMID:27195198

  11. Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases.

    PubMed

    Singh, Ankur; Faruq, Mohammed; Mukerji, Mitali; Dwivedi, Manish Kumar; Pruthi, Sumit; Kapoor, Seema

    2014-01-01

    Autosomal dominant cerebellar ataxia type I is a heterogeneous group of spinocerebellar ataxias with variable neurologic presentations, with age of onset varying from infancy to adulthood. Autosomal dominant cerebellar ataxia type I is composed mainly of 3 prevalent spinocerebellar ataxia types with different pathogenic loci, specifically spinocerebellar ataxia 1 (6p24-p23), spinocerebellar ataxia 2 (12q24.1), and spinocerebellar ataxia 3 (14q32.1). The shared pathogenic mutational event is the expansion of the CAG repeat that results in polyglutamine extended stretches in the encoded proteins. CAG repeat disorders generally show the phenomenon of anticipation, which is more often associated with paternal transmission. In this report, we describe a patient with infantile-onset spinocerebellar ataxia type 2 (~320 CAG repeat) who inherited the disease from his father (47 CAG repeats). We have summarized the clinical, neuroimaging, electroencephalographic (EEG), and molecular data of previous cases and attempt to highlight the most consistent findings. Our intent is to help treating clinicians to suspect this disorder and to offer timely genetic counseling for a currently potentially untreatable disorder.

  12. The Outcome of Infantile Onset Pompe Disease in South of Iran

    PubMed Central

    Moravej, Hossein; Karamizadeh, Zohre; Paran, Maryam

    2016-01-01

    Background: Infantile Onset Pompe Disease (IOPD) is a rare autosomal recessive neuromuscular disorder. It is associated with cardiomegaly, hypotonia, paresis, and death in the first year of life. Since 2006, following the use of Alglucosidase alfa as Enzyme Replacement Therapy (ERT), the patients’ survival is improved to a noticeable extent. Objectives: The purpose of this study is to examine the outcome of IOPD patients in South of Iran and the degree of responsiveness to ERT. Patients and Methods: All patients who were diagnosed with IOPD on the bases of clinical symptoms, and enzyme assay on dried blood spot, were included in the study; and were followed up regarding cardiac function, locomotor activity, and cognition. Results: Six patients with IOPD were identified. All these six patients suffered from Hypertrophic Cardiomyopathy (HCM). Four (67%) of them also had generalized hypotonia. Three patients expired during the first weeks due to severe respiratory infection. One of them also got involved with Acute Cardiopulmonary Failure while receiving the fifth dose of ERT; and expired. However, the remaining two patients had a significant improvement after the maximum of 117 weeks of following up both cardiac and locomotor findings. These two patients were the same patients who showed cardiac symptoms from the beginning but did not have generalized hypotonia. Conclusions: Although ERT has a significant effect on enhancing the survival of IOPD patients, it should be associated with meticulous heart-respiratory cares during the first months of treatment and preventing infection especially nosocomial infections. PMID:26848380

  13. Using health games for rehabilitation of patients with infantile cerebral palsy.

    PubMed

    Lee, Wan-Chen; Reyes-Fernández, Miriam C; Posada-Gómez, Rubén; Juárez-Martínez, Ulises; Martínez-Sibaja, Albino; Alor-Hernández, Giner

    2016-08-01

    [Purpose] The purposes of this study were to evaluate whether the therapeutic games developed by the study team are significantly effective for upper limb rehabilitation of patients with cerebral palsy and to assess the development of the games and the evolution of patients throughout the therapy sessions. [Subjects and Methods] This study demonstrates the results of using therapeutic games in patients with infantile cerebral palsy. The therapies were performed in 30-minute sessions for about 1 to 4 months. This study shows the progress of five children with cerebral palsy during the sessions. The time it took the children on each road and the times required to complete a task were measured. In addition, the level of difficulty of the games was gradually increased at each session. [Results] Results have shown good progress on the accuracy of the movements and an increase in concentration level during the execution of the games, showing an improvement in the patients' performance by 40-55% faster. [Conclusions] Health games encourage children to comply with therapy. The advantage of the game is that the patient can perform the therapy at home, which could help achieve further progress in patients. PMID:27630417

  14. Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

    PubMed Central

    Shamseldin, Hanan E.; Faqeih, Eissa; Alasmari, Ali; Zaki, Maha S.; Gleeson, Joseph G.; Alkuraya, Fowzan S.

    2016-01-01

    Brain channelopathies represent a growing class of brain disorders that usually result in paroxysmal disorders, although their role in other neurological phenotypes, including the recently described NALCN-related infantile encephalopathy, is increasingly recognized. In three Saudi Arabian families and one Egyptian family all affected by a remarkably similar phenotype (infantile encephalopathy and largely normal brain MRI) to that of NALCN-related infantile encephalopathy, we identified a locus on 2q34 in which whole-exome sequencing revealed three, including two apparently loss-of-function, recessive mutations in UNC80. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex. Our results expand the clinical relevance of the UNC79-UNC80-NALCN channel complex. PMID:26708753

  15. Vision development in the monocular individual: implications for the mechanisms of normal binocular vision development and the treatment of infantile esotropia.

    PubMed Central

    Day, S

    1995-01-01

    PURPOSE: The purpose of this research is to study the vision development in monocular individuals so as to better understand normal binocular vision development and to refine the treatment of infants with infantile esotropia. METHODS: Thirty-six subjects with one clinically normal eye and one eye with no vision (no light perception or history of enucleation) are studied. In addition to measurement of standard parameters of development such as visual acuity, measurement of motion processing is made by both optokinetic and electrophysiologic techniques. A comparison is made of vision development among three populations: the monocular population, the normal population, and patients with a history of infantile esotropia. Such comparison is made to study the relative effects of interruption of binocularity and binocular competition. The monocular population represents individuals who have interruption of binocularity, whereas the infantile esotropia population has both interruption of binocularity and binocular competition. RESULTS: The OKN data suggest that the monucular population is more similar to the normal population than the esotropia population. The electrophysiologic data shows a statistically significant difference in the three populations. Motion processing is more fully developed in the monocular population than in the infantile esotropia population when compared to the normal population. CONCLUSIONS: 1. The development of motion processing appears to be particularly vulnerable to abnormal experience during the first year of life. 2. Monocular subjects have a less abnormal motion processing system when compared to patients with infantile esotropia even when monocularity is congenital. 3. The results indirectly support the premise that prealignment alternate occlusion is of benefit to the patient with infantile esotropia prior to realignment. 4. Development of the motion processing system does not necessarily parallel the development of other binocular

  16. Efficacy and tolerability of the Galanin Analog NAX 5055 in the multiple-hit rat model of symptomatic infantile spasms

    PubMed Central

    Gygax, Marine Jequier; Klein, Brian D.; White, H. Steve; Kim, Mimi; Galanopoulou, Aristea S.

    2013-01-01

    Infantile spasms are seizures manifesting in infantile epileptic encephalopathies that are associated with poor epilepsy and cognitive outcomes. The current therapies are not always effective or are associated with serious side effects. Early cessation of spasms has been proposed to improve long-term outcomes. To identify new therapies for infantile spasms with rapid suppression of spasms, we are using the multiple-hit rat model of infantile spasms, which is a model of refractory infantile spasms. Here, we are testing the efficacy and tolerability of a single dose of the galanin receptor 1 preferring analog, NAX 5055, in the multiple-hit model of spasms. To induce the model, postnatal day 3 (PN3) male Sprague-Dawley rats underwent right intracerebral infusions of doxorubicin and lipopolysaccharide; p-chlorophenylalanine was then injected intraperitoneally (i.p.) at PN5. After the onset of spasms at PN4, 11–14 rats/group were injected i.p. with either NAX 5055 (0.5, 1, 2, or 4 mg/kg) or vehicle. Video monitoring for spasms included a 1hour pre-injection period, followed by 5 hours of recording post-injection, and two 2 hour sessions on PN5. The study was conducted in a randomized, blinded manner. Neurodevelopmental reflexes were assessed daily as well as at 2 hours after injection. Respiratory function, heart rate, pulse distension, oximetry and blood glucose were measured 4 hours after injection. The relative expression of GalR1 and GalR2 mRNA over β-actin in the cerebral cortex and hippocampus was determined with real time reverse transcription polymerase chain reaction. There was no acute effect of NAX 5055 on spasm frequency after the single dose of NAX 5055 (n=11–13 rats/group, following exclusions). Neurodevelopmental reflexes, vital signs, blood glucose measured 4 hours post-injection, and survival were not affected. A reduction in pulse and breath distention of unclear clinical significance was observed with the 7mg/kg NAX 5055 dose. GalR1 mRNA was

  17. A case report on the efficacy of vigabatrin analogue (1S, 3S)-3-amino-4-difluoromethylenyl-1-cyclopentanoic acid (CPP-115) in a patient with infantile spasms.

    PubMed

    Doumlele, Kyra; Conway, Erin; Hedlund, Julie; Tolete, Patricia; Devinsky, Orrin

    2016-01-01

    West Syndrome is characterized by infantile spasms, a hypsarrhythmic electroencephalogram (EEG) pattern, and a poor neurodevelopmental prognosis. First-line treatments include adrenocorticotrophic hormone (ACTH) and vigabatrin, but adverse effects often limit their use. CPP-115 is a high-affinity vigabatrin analogue developed to increase therapeutic potency and to limit retinal toxicity. Here, we present a child treated with CPP-115 through an investigational new drug protocol who experienced a marked reduction of seizures with no evidence of retinal dysfunction. Given the potential consequences of ongoing infantile spasms and the limitations of available treatments, further assessment of CPP-115 is warranted. PMID:27668180

  18. Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum

    PubMed Central

    Ngoh, Adeline; McTague, Amy; Wentzensen, Ingrid M; Meyer, Esther; Applegate, Carolyn; Kossoff, Eric H; Batista, Denise A; Wang, Tao; Kurian, Manju A

    2014-01-01

    Homozygous deletions of chromosome 20p12.3, disrupting the promoter region and first three coding exons of the phospholipase C β1 gene (PLCB1), have previously been described in two reports of early infantile epileptic encephalopathy (EIEE). Both children were born to consanguineous parents, one presented with infantile spasms, the other with migrating partial seizures of infancy. We describe an infant presenting with severe intractable epilepsy (without a specific EIEE electroclinical syndrome diagnosis) and neurodevelopmental delay associated with compound heterozygous mutations in PLCB1. A case note review and molecular genetic investigations were performed for a child, approximately 10 months of age, admitted to Johns Hopkins University Hospital for developmental delay and new-onset seizures. The patient presented at 6 months of age with developmental delay, followed by the onset of intractable, focal, and generalized seizures associated with developmental regression from 10 months of age. Presently, at 2 years of age, the child has severe motor and cognitive delays. Diagnostic microarray revealed a heterozygous 476kb deletion of 20p12.3 (encompassing PLCB1), which was also detected in the mother. The genomic breakpoints for the heterozygous deletion were determined. In order to investigate the presence of a second PLCB1 mutation, direct Sanger sequencing of the coding region and flanking intronic regions was undertaken, revealing a novel heterozygous intron 1 splice site variant (c.99+1G>A) in both the index individual and the father. Advances in molecular genetic testing have greatly improved diagnostic rates in EIEE, and this report further confirms the important role of microarray investigation in this group of disorders. PLCB1-EIEE is now reported in a number of different EIEE phenotypes and our report provides further evidence for phenotypic pleiotropy encountered in early infantile epilepsy syndromes. PMID:24684524

  19. Nystagmus and Related Fixation Instabilities Following Extraction of Unilateral Infantile Cataract in the Infant Aphakia Treatment Study (IATS)

    PubMed Central

    Felius, Joost; Busettini, Claudio; Lynn, Michael J.; Hartmann, E. Eugenie; Lambert, Scott R.

    2014-01-01

    Purpose. To study eye movements in a large group of children after the removal of unilateral infantile cataract, and to compare fixation instabilities between treatment groups with or without IOL implantation. Methods. The Infant Aphakia Treatment Study (IATS) is a randomized, multicenter clinical trial comparing IOL to contact lens (CL) treatment with a unilateral infantile cataract in participants who underwent cataract surgery at 1 to 6 months of age. At age 4.5 years, eye movements were recorded in 103 participants, using a high-speed video camera while the child performed a fixation task. The recordings were inspected by masked readers for the presence of fixation instabilities (nystagmus and saccadic oscillations). Results. Overall, fixation instabilities were observed in 50 (60%) of 83 children who had evaluable recordings, with no differences between treatment groups (27 [64%] of 42 in the IOL group, 23 [56%] of 41 in the CL group; P = 0.51). Nystagmus was seen in 38% and saccadic oscillations in 31%, with no differences between treatment groups (P > 0.33). Children without a fixation instability had better visual acuity (P = 0.04). Conclusions. Nystagmus and saccadic oscillations are well-known consequences of infantile cataracts, presumably the result of visual deprivation during the critical period of visual development. After early cataract extraction, successful optical correction may reduce further form deprivation and minimize the incidence of these fixation instabilities. In this study, no differences in the presence of fixation instabilities were found between the two treatment strategies (CL or IOL) for optical correction after cataract removal. (ClinicalTrials.gov number, NCT00212134.) PMID:25097243

  20. Gastrointestinal symptoms of infantile colic and their change after light needling of acupuncture: a case series study of 913 infants

    PubMed Central

    2011-01-01

    Background Infantile colic is a common painful clinical condition associated with signs of distended intestines and an increase in colon peristalsis. However, clinical documentation of observed gastrointestinal functions in the condition is still lacking. Even though the ailment is common, no clear treatment guidelines exist. While acupuncture with minimal stimulation has been shown to be effective in reducing crying behaviour of infants suffering from colic, the documented effect of acupuncture on gastrointestinal function in children with infantile colic is scarce. This case series study aims to document the symptoms of routinely rated gastrointestinal function and the changes in these symptoms after minimal acupuncture in a larger group of children with infantile colic. Methods This study included 913 infants with normal weights, and lengths at birth. The infants' mean age was 5.4 weeks when the observations started, and had colic symptoms since two weeks after birth. Light needling stimulation of the acupuncture point LI4 was performed for 10-20 seconds bilaterally on a daily basis for a mean of 6.2 consecutive days. A questionnaire with verbal rating scales for the parents' evaluation was used before and after the treatment period. Results Before treatment the infants were assessed by the parents in terms of 'often have inflated stomachs' (99%) and 'seldom drool' (76%), 'regurgitate' (53%) and 'belch' (62%). Moreover, the reported frequency of defecation was 5-8 times per day (64%), with a yellowish-green colour (61%) and with a water-thin consistency (74%). After treatment, the variables of inflated stomachs, drooling and regurgitating were systematically changed, and rated by the parents as occurring 'sometimes' while belching was rated as occurring 'often' and the frequency of defecation was reduced to 1-4 times/day with a mustard yellow colour and a gruel-like consistency. The parents also rated their impression of the infants' general colic symptoms

  1. Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

    PubMed

    Haghighi, Alireza; Rezazadeh, Jamileh; Shadmehri, Azam Ahmadi; Haghighi, Amirreza; Kornreich, Ruth; Desnick, Robert J

    2011-09-01

    The β-hexosaminidase A (HEXA) mutations in the first reported cases of infantile Tay-Sachs disease in the Persian population were identified in two unrelated consanguineous families. The clinical diagnoses of the affected infants were confirmed by their markedly deficient levels of HEXA activity in plasma or peripheral leukocytes. The specific causative mutation in each family was determined by sequencing the HEXA alleles in both sets of related parents. Two mutations were identified: c.1A>G (p.MIV), which obliterated the initiating methionine in codon 1, and c.1177C>T (p.R393X), which predicted a termination codon or nonsense mutation.

  2. Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

    PubMed

    Haghighi, Alireza; Rezazadeh, Jamileh; Shadmehri, Azam Ahmadi; Haghighi, Amirreza; Kornreich, Ruth; Desnick, Robert J

    2011-09-01

    The β-hexosaminidase A (HEXA) mutations in the first reported cases of infantile Tay-Sachs disease in the Persian population were identified in two unrelated consanguineous families. The clinical diagnoses of the affected infants were confirmed by their markedly deficient levels of HEXA activity in plasma or peripheral leukocytes. The specific causative mutation in each family was determined by sequencing the HEXA alleles in both sets of related parents. Two mutations were identified: c.1A>G (p.MIV), which obliterated the initiating methionine in codon 1, and c.1177C>T (p.R393X), which predicted a termination codon or nonsense mutation. PMID:21796138

  3. Acute Corneal Hydrops in Children with Primary Infantile Glaucoma: A Report of 31 Cases over 23 Years at the LVPEI

    PubMed Central

    Mandal, Anil K.

    2016-01-01

    Purpose Relatively little data exist regarding the outcomes of children with primary infantile glaucoma presenting with acute corneal hydrops. The aim of our study was to determine the surgical outcome of children of infantile glaucoma who presented with acute corneal hydrops. Methods In total, 38 eyes of 31 consecutive children of infantile glaucoma presented with acute corneal hydrops who underwent primary combined trabeculotomy-trabeculectomy (CTT) by a single surgeon from January 1990 to December 2012 at the LV Prasad Eye Institute (LVPEI), a tertiary eye care centre in Southern India were enrolled in this retrospective study. Primary outcome measures were intraocular pressure (IOP) control (IOP ≤ 16 mmHg under anaesthesia or IOP ≤ 21 mmHg without anaesthesia) and clearance of corneal edema. Secondary outcome measures were visual acuity (VA), corneal diameter, bleb appearance, intraoperative and postoperative complications. Results Mean age at presentation was 6.4 months (range, 2–11 months) and seven eyes (23%) had bilateral affliction. At presentation, all eyes (100%) had moderate to severe degree of corneal edema with a mean preoperative IOP of 25.6 ±5.1 mmHg. Postoperatively, the IOP reduced to 12.0 ± 3.8 mmHg (difference = -13.6, 95% CI = -15.7 to -11.5, t = -13.18, p<0.0001), and the percentage reduction in IOP was 53.05%. Preoperatively 83% of the eyes were on antiglaucoma medication, and postoperatively 2 eyes (5.3%) required 1 antiglaucoma medication for control of IOP. Preoperatively, corneal edema was present in all eyes and postoperatively it cleared in all of them. Significant myopic astigmatism was present in 28 eyes (74%), the commonest being compound myopic astigmatism (75%) followed by simple myopic astigmatism (21%). Normal VA (best-corrected VA; BCVA ≥ 20/60) was achieved in 44.4% of the eyes and 22.2% eyes had low vision (BCVA, <20/60 to 20/400). Complete success (IOP control and clearance of corneal oedema) was obtained in 94

  4. Rare association of thin corpus callosum with infantile tremor syndrome in a 5.5-month-old infant

    PubMed Central

    Sharma, Chandra Madhur; Sharma, Deepti; Kumar, Romal; Ranjan, Rahul

    2015-01-01

    Infantile tremor syndrome (ITS) is a clinical disorder characterized by coarse tremors, anemia and regression of motor and mental milestones, presenting in malnourished children aged between 5 months and 3 years. Few reports of neuroimaging abnormalities in children with ITS are present. The most common finding of neuroimaging in ITS is cerebral atrophy with ex-vacuo enlargement of ventricles and subarachnoid space, some recent reports also showed pontine myelinolysis and cerebral hyperintensities. We did not find any report of thin corpus callosum associated with ITS in the literature. PMID:26557175

  5. Infantile Perianal Pyramidal Protrusion with Coexisting Perineal and Perianal Hemangiomas: A Fortuitous Association or Incomplete PELVIS Syndrome?

    PubMed Central

    Verma, Shyam B; Wollina, Uwe

    2014-01-01

    Two cases of infantile perianal pyramidal protrusions (IPPP), one pyramidal in shape and one leaf shaped, are being described by us. Both were notable for coexisting hemangiomas in the close vicinity. To the best of our knowledge we are reporting these two variants of IPPP with the associated neighboring hemangiomas for the first time in Indian dermatologic literature. We suggest that this presentation may be a part of one of the syndromes that comprise anorectal malformations with hemangiomas like PELVIS syndrome and others mentioned in the table. PMID:24470664

  6. Short adolescence in early hominids: infantile and adolescent growth of the human femur.

    PubMed

    Tardieu, C

    1998-10-01

    Did the first hominids have a short developmental period similar to that of the great apes or a longer period closer to that of modern humans? Evidence from studies on dental and facial growth favors the first point of view. Additional evidence presented in this report is provided by a morphogenetic analysis of the lower limb. Some morphological modifications undergone by the human femur during infantile and adolescent growth are shown to be excellent markers of different developmental stages. The angular remodelling of the femoral diaphysis, which results in femoral bicondylar angle, is a marker of infancy, while the reshaping of the distal femoral epiphysis is a marker of adolescence. This reshaping of the bony epiphysis consists of the strong projection of the external lip of the femoral trochlea, the increase of the radius of curvature of the external condyle, and the anteroposterior lengthening of the whole epiphysis. The growth spurt in linear dimensions of the femur, characteristic of human adolescence, is shown to be associated with qualitative changes of the distal femoral epiphysis engendered by the late closure of the distal epiphysis. The femur of the first hominids (Australopithecus afarensis) shows only features of infantile growth, whereas characters of both precocious and later growth are typical of later hominids (Homo). The absence of the derived epiphyseal features in Australopithecus would be linked to their early epiphyseal closure and short adolescent growth period; their presence in Homo would have been promoted by their delayed epiphyseal closure and prolonged adolescent growth period. The transition from Australopithecus to Homo appears to have involved a heterochronic process of time hypermorphosis (Gould, [1977], Ontogeny and Phylogeny [Cambridge: Harvard University Press]) in which the size of the femur increases, the epiphysis is modified, and the period of peripubertal growth is prolonged. The shape of the distal epiphyses of KNM

  7. The Protocol for the Early vs. Late Infantile Strabismus Surgery Study.

    PubMed

    Simonsz, H

    1993-01-01

    The Early vs. Late Infantile Strabismus Surgery Study Group is a group of strabismologists and orthoptists who investigate whether early or late surgery is preferable in infantile strabismus, in a non-randomized, prospective, multi-centre trial. Infants between 6 and 18 months of age will receive a standardized entry examination and then be operated either before their second anniversary in clinics A, or between their 32nd and 60th month of age in clinics B. The children will be evaluated at age six. After completion of the study, the two groups can then be compared regarding degree of binocular vision, angle of strabismus and visual acuity of the worse eye relative to the better. Zentrum zur methodischen Betreuung von Therapiestudien, Mrs H. Dinkel, Universität Heidelberg, Im Neuenheimer Feld 305, W-69120 Heidelberg. 49.6221.565500. fax: 564195 Germany PD Dr. H.J. Simonsz, Orthoptics & Neuroophthalmology, Afdeling Oogheelkunde, University Hospital Dijkzigt, Dr. Molewaterplein 40, NL 3015 GD Rotterdam. 3 i. 10.4639222, ask for beeper 3394 fax: 4635105 The Netherlands PD Dr. med. G.H. Rolling, Schule für Orthoptik, Universitäts-Augenklinik, Im Neuenheimer Feld 400, W-69047 Heidelberg. 49.6221.566627/34/39 fax: 565422 Germany Dipl.-Inform. Med. U. Haag, Universität Heidelberg, Zentrum zur methodischen Betreuung von Therapiestudien, Im Neuenheimer Feld 305, W-69120 Heidelberg. 49.6221.564192 fax: 564195 Germany Dr. A. Deák, Augenklinik, Korányi Fasor, U-6720 Szeged. 36.62.12321/10822 fax: 22826 Hungary Mr P. Fells, F.R.C.S., F.C. Ophth., Lower Corridor Suite, Moorfields Eye Hospital, City Road, ECIV 2PD London. 44.71.2533411 fax: 2534696 (lower corridor suite) England Prof. R. Frosini, Istituto di Clinica Oculista dell' Universita di Firenze, Insegnamento di Ottica Fisiopatologica, Viale Morgagni 85,1-50134 Florence. Dr. R. Gomez de Liaño, Nuñez de Balboa 81, E-28006 Madrid. 34.1.5763229/72318 Spain Dr. O. Haugen, Orthoptic Department, Department of

  8. Survival Advantage of Neonatal CNS Gene Transfer for Late Infantile Neuronal Ceroid Lipofuscinosis

    PubMed Central

    Sondhi, Dolan; Peterson, Daniel A.; Edelstein, Andrew M.; del Fierro, Katrina; Hackett, Neil R.; Crystal, Ronald G.

    2009-01-01

    Summary Late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal autosomal recessive neurodegenerative lysosomal storage disorder of childhood, is caused by mutations in the CLN2 gene, resulting in deficiency of the protein tripeptidyl peptidase I (TPP-I). We have previously shown that direct CNS administration of AAVrh.10hCLN2 to adult CLN2 knockout mice, a serotype rh.10 adeno-associated virus expressing the wild type CLN2 cDNA, will partially improve neurological function and survival. In this study, we explore the hypothesis that administration of AAVrh.10hCLN2 to the neonatal brain will significantly improve the results of AAVrh.10hCLN2 therapy. To assess this concept, AAVrh.10hCLN2 vector was administered directly to the CNS of CLN2 knockout mice at 2 days, 3 wk and 7 wk of age. While all treatment groups show a marked increase in total TPP-I activity over wild-type mice, neonatally treated mice displayed high levels of TPP-I activity in the CNS 1 yr after administration which was spread throughout the brain. Using behavioral markers, 2 day treated mice demonstrate marked improvement over 3 wk, 7 wk or untreated mice. Finally, neonatal administration of AAVrh.10hCLN2 was associated with markedly enhanced survival, with a median time of death 376 days for neonatal treated mice, 277 days for 3 wk treated mice, 168 days for 7 wk treated mice, and 121 days for untreated mice. These data suggest that neonatal treatment offers many unique advantages, and that early detection and treatment may be essential for maximal gene therapy for childhood lysosomal storage disorders affecting the CNS. PMID:18639872

  9. Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.

    PubMed

    Sá, Maria João Nabais; Rocha, Júlio C; Almeida, Manuela F; Carmona, Carla; Martins, Esmeralda; Miranda, Vasco; Coutinho, Miguel; Ferreira, Rita; Pacheco, Sara; Laranjeira, Francisco; Ribeiro, Isaura; Fortuna, Ana Maria; Lacerda, Lúcia

    2016-01-01

    Infantile Refsum disease (IRD) is one of the less severe of Zellweger spectrum disorders (ZSDs), a group of peroxisomal biogenesis disorders resulting from a generalized peroxisomal function impairment. Increased plasma levels of very long chain fatty acids (VLCFA) and phytanic acid are biomarkers used in IRD diagnosis. Furthermore, an increased plasma level of phytanic acid is known to be associated with neurologic damage. Treatment of IRD is symptomatic and multidisciplinary.The authors report a 3-year-old child, born from consanguineous parents, who presented with developmental delay, retinitis pigmentosa, sensorineural deafness and craniofacial dysmorphisms. While the relative level of plasma C26:0 was slightly increased, other VLCFA were normal. Thus, a detailed characterization of the phenotype was essential to point to a ZSD. Repeatedly increased levels of plasma VLCFA, along with phytanic acid and pristanic acid, deficient dihydroxyacetone phosphate acyltransferase activity in fibroblasts and identification of the homozygous pathogenic mutation c.2528G>A (p.Gly843Asp) in the PEX1 gene, confirmed this diagnosis. Nutritional advice and follow-up was proposed aiming phytanic acid dietary intake reduction. During dietary treatment, plasma levels of phytanic acid decreased to normal, and the patient's development evaluation showed slow progressive acquisition of new competences.This case report highlights the relevance of considering a ZSD in any child with developmental delay who manifests hearing and visual impairment and of performing a systematic biochemical investigation, when plasma VLCFA are mildly increased. During dietary intervention, a biochemical improvement was observed, and the long-term clinical effect of this approach needs to be evaluated.

  10. Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease.

    PubMed

    Matsunami, Masatoshi; Shimozawa, Nobuyuki; Fukuda, Akinari; Kumagai, Tadayuki; Kubota, Masaya; Chong, Pin Fee; Kasahara, Mureo

    2016-06-01

    Infantile Refsum disease (IRD) is a rare autosomal recessive disorder of peroxisome biogenesis characterized by generalized peroxisomal metabolic dysfunction, including accumulation of very long-chain fatty acids (VLCFAs) and phytanic acid (PA), as well as decreased plasmalogen contents (PL). An effective therapy for this intractable disease has not been established, and only supportive management with docosahexaenoic acid supplementation and low PA diet has been reported so far. A boy of 3 years and 8 months presented with facial dysmorphism, transaminitis, and psychomotor retardation. Biochemical analysis showed elevated PA and VLCFAs, with reduced PL in the serum. Immunofluorescence study of fibroblasts from the patient indicated a mosaic pattern of catalase-positive and -negative particles, and molecular analysis revealed compound heterozygous mutations of PEX6 The failure of medical management to prevent the progression of clinical symptoms and abnormal biochemistry prompted us to consider liver transplantation (LT). With the chances of receiving a deceased donor liver being poor, we performed a living-donor LT from the patient's heterozygous mother. At 6-month follow-up, the patient's serum PA levels had normalized. VLCFAs and PL levels had declined and increased, respectively. To the best of our knowledge, this is the second reported case in which IRD was treated by living-donor LT by using a heterozygous donor. Only long-term follow-up will reveal if there is any clinical improvement in the present case. With the liver being a major site for peroxisomal pathways, its replacement by LT may work as a form of partial enzyme therapy for patients with IRD.

  11. Comparative Analysis of the Extracellular Matrix Composition in Proliferating and Involuted Infantile Hemangiomas

    PubMed Central

    Park, Hyochun; Park, Hannara; O, Teresa M; Waner, Milton

    2015-01-01

    Background Changes in the composition of the extracellular matrix (ECM) occur between the proliferating and involuted phases of infantile hemangiomas (IH), and are associated with angiogenic growth. We examined the composition of the ECM in proliferating and involuted IHs and assessed correlations between the composition of the ECM and whether the IH was in the proliferating or the involuted phase. Methods We evaluated IH samples from a cohort of patients who had five proliferating IHs and five involuted IHs. The following ECM molecules were analyzed using enzyme-linked immunosorbent assays and immunohistochemistry: laminin, fibronectin, collagen type I, collagen type II, and collagen type III. Results The involuted IHs had higher levels of deposition of collagen type III than the proliferating IHs. The median values (interquartile ranges) were 1.135 (0.946-1.486) and 1.008 (0.780-1.166) (P=0.019), respectively. The level of laminin was higher in involuted IHs than in proliferating IHs, with median values (interquartile ranges) of 3.191 (2.945-3.191) and 2.479 (1.699-3.284) (P=0.047), respectively. Abundant collagen type III staining was found in involuted IHs. Laminin α4 chain staining was clearly present within the basement membrane adjacent to the blood vessels, and was significantly more intense in involuted IHs than in proliferative IHs. Conclusions Involuted hemangiomas showed extensive deposition of collagen III and laminin, suggesting that differences in the composition of the ECM reflect stages of the development of IHs. This pattern may be due to the rapid senescence of IHs. PMID:26430624

  12. The sub-clinical see-saw nystagmus embedded in infantile nystagmus.

    PubMed

    Dell'Osso, L F; Jacobs, J B; Serra, A

    2007-02-01

    A transient, decompensated vertical phoria in an individual with infantile nystagmus syndrome (INS) resulted in two images that oscillated vertically-a diplopic oscillopsia. Ocular motor studies during the vertical oscillopsia recreated by vertical prisms, led to the identification of a sub-clinical see-saw nystagmus (SSN), present under the prism-induced diplopic condition. Retrospective analysis of ocular motor recordings made prior to the above episode of vertical diplopia revealed the presence of that same sub-clinical SSN. The SSN had not been detected previously despite extensive observations and recordings of this subject's pendular IN over a period of forty years. Three- dimensional search-coil data from fourteen additional INS subjects (with pendular and jerk waveforms) confirmed the existence of sub-clinical SSN embedded within the clinically detectable horizontal-torsional IN in seven of the fifteen and a sub-clinical, conjugate, vertical component in the remaining eight. Unlike the clinically visible SSN found in achiasma, the cause of this sub-clinical SSN is hypothesized to be due to a failure of the forces of the oblique muscles (responsible for the torsional component of the IN) to balance out the associated forces of the vertical recti; the net result is a small, sub-clinical SSN. Thus, so-called "horizontal" IN is actually a horizontal-torsional oscillation with a secondary, sub-clinical SSN or conjugate vertical component. The suppression of oscillopsia by efference copy in INS appears to be accomplished for each eye individually, even in a binocular individual. However, failure to fuse the two images results in oscillopsia of one of them.

  13. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

    PubMed

    Boutry-Kryza, Nadia; Labalme, Audrey; Ville, Dorothee; de Bellescize, Julitta; Touraine, Renaud; Prieur, Fabienne; Dimassi, Sarra; Poulat, Anne-Lise; Till, Marianne; Rossi, Massimiliano; Bourel-Ponchel, Emilie; Delignières, Aline; Le Moing, Anne-Gaelle; Rivier, Clotilde; des Portes, Vincent; Edery, Patrick; Calender, Alain; Sanlaville, Damien; Lesca, Gaetan

    2015-02-01

    Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life. West syndrome represents a subset of ISs that associates spasms in clusters, a hypsarrhythmia EEG pattern and a developmental arrest or regression. Aetiology of ISs is widely heterogeneous including many genetic causes. Many patients, however, remain without etiological diagnosis, which is critical for prognostic purpose and genetic counselling. In the present study, we performed genetic screening of 73 patients with different types of ISs by array-CGH and molecular analysis of 5 genes: CDKL5, STXBP1, KCNQ2, and GRIN2A, whose mutations cause different types of epileptic encephalopathies, including ISs, as well as MAGI2, which was suggested to be related to a subset of ISs. In total, we found a disease-causing mutation or CNV (Copy Number Variation) in 15% of the patients. These included 6 point mutations found in CDKL5 (n = 3) and STXBP1 (n = 3), 3 microdeletions (10 Mb in 2q24.3, 3.2 Mb in 5q14.3 including the region upstream to MEF2C, and 256 kb in 9q34 disrupting EHMT1), and 2 microduplications (671 kb in 2q24.3 encompassing SCN2A, and 11.93 Mb in Xq28). In addition, we discuss 3 CNVs as potential risk factors, including one 16p12.1 deletion, one intronic deletion of the NEDD4 gene, and one intronic deletion of CALN1 gene. The present findings highlight the efficacy of combined cytogenetic and targeted mutation screening to improve the diagnostic yield in patient with ISs.

  14. Association of infantile bruxism and the terminal relationships of the primary second molars.

    PubMed

    Junqueira, Tatiana Helena; Nahás-Scocate, Ana Carla Raphaelli; Valle-Corotti, Karyna Martins do; Conti, Ana Claudia de Castro Ferreira; Trevisan, Shirley

    2013-01-01

    The aim of this study was to analyze the association between infantile bruxism and the terminal relationships of the primary second molars. A total of 937 pre-school children (both genders), aged from 2 to 6 years, from municipal schools in São Paulo were evaluated. In this study, a questionnaire considering the bruxism habit and the presence of headaches and/or restless sleep was answered by the parents/guardians. A clinical exam of occlusion in the anteroposterior direction (vertical plane - VP, mesial step - MS and distal step - DS) was performed by the examiners in the school environment. Student's t test, Fisher's test and a logistic regression test were applied for the statistical analysis at a significance level of 5%. The prevalence of the bruxism habit was 29.3% among the total sample. Because there was no significant difference between the sides evaluated, the left side was taken as the standard. Among those children with bruxism, 25.7% presented a mesial step terminal relationship at the primary second molars, 29.1% had DS, and 30.2% had VP. Regarding the association of the parafunctional habit with the type of terminal relationship, no significant results were found. Children who slept restlessly or suffered from headaches were verified to show a higher chance of expressing the habit (OR = 2.4 and 1.6, respectively). The prevalence of bruxism in the studied sample was 29.3%, and its association with the primary second molars' terminal relationship was not statistically significant.

  15. Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically?

    PubMed

    Carter, Randy L; Wrabetz, Lawrence; Jalal, Kabir; Orsini, Joseph J; Barczykowski, Amy L; Matern, Dietrich; Langan, Thomas J

    2016-11-01

    Krabbe's disease (KD) is a fatal neurodegenerative disorder, with the early-infantile form (EIKD) defined by onset of symptoms before age 6 months. Early and highly accurate identification of EIKD is required to maximize benefits of hematopoietic stem cell transplantation treatment. This study investigates the potential for accurate prediction of EIKD based on a novel newborn screening (NBS) tool developed from two biomarkers, galactocerebrosidase (GALC) enzyme activity and galactosylsphingosine concentration (psychosine [PSY]). Normative information about PSY and GALC, derived from distinct samples of normal newborns, was used to develop the novel diagnostic tool. Bivariate normal limits (BVNL) were constructed, assuming a multivariate normal distribution of natural logarithms of GALC and PSY of normal newborns. The (lnGALC, lnPSY) points for newborns in various "abnormal groups," including one group of infants who subsequently suffered EIKD, were plotted on a graph of BVNL. The points for all EIKD patients fell outside of BVNL (100% sensitivity). In a simulation study to compare the false-positive rate of existing univariate methods of diagnosis with our new BVNL-based method, we generated 100 million normal newborn data points. All fell within BVNL (i.e., zero false positives), whereas 5,682 false positives were observed when applying a two-tiered univariate method of the type suggested in the literature. These results suggest that (lnGALC, lnPSY) BVNLs will allow highly accurate prediction of EIKD, whereas two-tiered univariate approaches will not. Redevelopment of the BVNL based on GALCs and PSYs measured on a common large sample of normal newborns is required for NBS use. © 2016 Wiley Periodicals, Inc. PMID:27638594

  16. Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically?

    PubMed

    Carter, Randy L; Wrabetz, Lawrence; Jalal, Kabir; Orsini, Joseph J; Barczykowski, Amy L; Matern, Dietrich; Langan, Thomas J

    2016-11-01

    Krabbe's disease (KD) is a fatal neurodegenerative disorder, with the early-infantile form (EIKD) defined by onset of symptoms before age 6 months. Early and highly accurate identification of EIKD is required to maximize benefits of hematopoietic stem cell transplantation treatment. This study investigates the potential for accurate prediction of EIKD based on a novel newborn screening (NBS) tool developed from two biomarkers, galactocerebrosidase (GALC) enzyme activity and galactosylsphingosine concentration (psychosine [PSY]). Normative information about PSY and GALC, derived from distinct samples of normal newborns, was used to develop the novel diagnostic tool. Bivariate normal limits (BVNL) were constructed, assuming a multivariate normal distribution of natural logarithms of GALC and PSY of normal newborns. The (lnGALC, lnPSY) points for newborns in various "abnormal groups," including one group of infants who subsequently suffered EIKD, were plotted on a graph of BVNL. The points for all EIKD patients fell outside of BVNL (100% sensitivity). In a simulation study to compare the false-positive rate of existing univariate methods of diagnosis with our new BVNL-based method, we generated 100 million normal newborn data points. All fell within BVNL (i.e., zero false positives), whereas 5,682 false positives were observed when applying a two-tiered univariate method of the type suggested in the literature. These results suggest that (lnGALC, lnPSY) BVNLs will allow highly accurate prediction of EIKD, whereas two-tiered univariate approaches will not. Redevelopment of the BVNL based on GALCs and PSYs measured on a common large sample of normal newborns is required for NBS use. © 2016 Wiley Periodicals, Inc.

  17. Gestational age-specific associations between infantile acute bronchiolitis and asthma after age five

    PubMed Central

    Strickland, Matthew J.; Marsh, Caitlin A.; Darrow, Lyndsey A.

    2014-01-01

    Background Infantile acute bronchiolitis is a risk factor for the development of pediatric asthma. The associations might differ according to gestational age. Methods Datasets of emergency department (ED) visits (Jan 2002 to June 2010) and live birth records (Jan 2002 to Dec 2004) from the state of Georgia were linked for all children who survived one year. Exposure was an ED visit for acute bronchiolitis during infancy (AB), and the outcome was an ED visit for asthma after age five years. The risk of asthma among children with AB (n = 11,564) was compared with the risk of asthma among children who did not have an ED visit for AB but who utilized the ED for another reason during infancy (n = 131,694). Associations were estimated using log-binomial regression models that controlled for several plausible confounders. Effect measure modification of the risk ratio by gestational age was investigated. Results Crude asthma risks (per 100 children) through June 2010 were 4.5 for children with AB and 2.3 for children without AB. The adjusted risk ratio for the overall association was 1.89 (95% confidence interval (CI) 1.73, 2.108). We did not observe effect modification of the risk ratio by gestational age. Conclusion A positive association was observed between ED visits for AB and subsequent asthma ED visits after age five; associations did not vary meaningfully by gestational age. Sensitivity analyses did not suggest large biases due to differences in ED utilization across socio-demographic groups or loss to follow-up from residential migration. PMID:25256755

  18. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

    PubMed

    Kumar, Raman; Corbett, Mark A; Smith, Nicholas J C; Jolly, Lachlan A; Tan, Chuan; Keating, Damien J; Duffield, Michael D; Utsumi, Toshihiko; Moriya, Koko; Smith, Katherine R; Hoischen, Alexander; Abbott, Kim; Harbord, Michael G; Compton, Alison G; Woenig, Joshua A; Arts, Peer; Kwint, Michael; Wieskamp, Nienke; Gijsen, Sabine; Veltman, Joris A; Bahlo, Melanie; Gleeson, Joseph G; Haan, Eric; Gecz, Jozef

    2015-04-01

    We report siblings of consanguineous parents with an infantile-onset neurodegenerative disorder manifesting a predominant sensorimotor axonal neuropathy, optic atrophy and cognitive deficit. We used homozygosity mapping to identify an ∼12-Mbp interval identical by descent (IBD) between the affected individuals on chromosome 3q13.13-21.1 with an LOD score of 2.31. We combined family-based whole-exome and whole-genome sequencing of parents and affected siblings and, after filtering of likely non-pathogenic variants, identified a unique missense variant in syntaxin-binding protein 5-like (STXBP5L c.3127G>A, p.Val1043Ile [CCDS43137.1]) in the IBD interval. Considering other modes of inheritance, we also found compound heterozygous variants in FMNL3 (c.114G>C, p.Phe38Leu and c.1372T>G, p.Ile458Leu [CCDS44874.1]) located on chromosome 12. STXBP5L (or Tomosyn-2) is expressed in the central and peripheral nervous system and is known to inhibit neurotransmitter release through inhibition of the formation of the SNARE complexes between synaptic vesicles and the plasma membrane. FMNL3 is expressed more widely and is a formin family protein that is involved in the regulation of cell morphology and cytoskeletal organization. The STXBP5L p.Val1043Ile variant enhanced inhibition of exocytosis in comparison with wild-type (WT) STXBP5L. Furthermore, WT STXBP5L, but not variant STXBP5L, promoted axonal outgrowth in manipulated mouse primary hippocampal neurons. However, the FMNL3 p.Phe38Leu and p.Ile458Leu variants showed minimal effects in these cells. Collectively, our clinical, genetic and molecular data suggest that the IBD variant in STXBP5L is the likely cause of the disorder.

  19. [Epidemiological, clinical and biological features of infantile visceral leishmaniasis at Kairouan hospital (Tunisia): about 240 cases].

    PubMed

    Aissi, W; Ben Hellel, K; Habboul, Z; Ben Sghaier, I; Harrat, Z; Bouratbine, A; Aoun, K

    2015-10-01

    Visceral leishmaniasis (VL) is an important health problem in Tunisia. It is most common in children under five years of age. The governorate of Kairouan (central Tunisia) is one of the most affected foci. The aim of this study was to update the epidemiological, clinical and biological features of the disease. The study concerned all VL cases admitted in the pediatric department of Kairouan hospital during 10 years (from 2004 to 2013). For every patient included in this study and when available, data such as sex, age, geographical origin and the condition of the patient at admission (clinical and biological findings) were collected. The myelogram results were also exploited as well as results of serology, culture, Real-Time polymerase chain reaction (PCR) and isoenzymatic typing of Leishmania isolates. Two hundred and forty cases were recorded. Rural cases (87.1%) were more prevalent than urban ones (12.9%). Age ranged from 2 months to 13 years (median, 18 months). The female/male sex ratio was 1.03. The diagnosis delays ranged from 1 day to 8 months (median, 15 days). The most common clinical symptoms at admission were splenomegaly (97.9%), fever (79.9%) and hepatomegaly (47.3%). The principal biological disturbances were anemia (91.7%), thrombocytopenia (83.9%) and leucopenia (56.1%). Among the different biological tools used for diagnosis confirmation, PCR was the most sensitive (100%). All 43 typed stocks corresponded to Leishmania (L.) infantum species. Although zymodeme MON-1 was predictably the most frequent (27 cases), L. infantum MON-24 and MON-80 were responsible of no negligible numbers of cases (11 and 5 cases respectively). The present study gave an updated epidemiological, clinical and biological profile of infantile VL in Tunisia. The diagnosis delays were considerably shortened compared to previous reports. However, an even earlier diagnosis of cases is needed to improve the disease prognosis. Real-Time PCR showed to be helpful in VL management.

  20. Initiation and Use of Propranolol for Infantile Hemangioma: Report of a Consensus Conference

    PubMed Central

    Frommelt, Peter C.; Chamlin, Sarah L.; Haggstrom, Anita; Bauman, Nancy M.; Chiu, Yvonne E.; Chun, Robert H.; Garzon, Maria C.; Holland, Kristen E.; Liberman, Leonardo; MacLellan-Tobert, Susan; Mancini, Anthony J.; Metry, Denise; Puttgen, Katherine B.; Seefeldt, Marcia; Sidbury, Robert; Ward, Kendra M.; Blei, Francine; Baselga, Eulalia; Cassidy, Laura; Darrow, David H.; Joachim, Shawna; Kwon, Eun-Kyung M.; Martin, Kari; Perkins, Jonathan; Siegel, Dawn H.; Boucek, Robert J.; Frieden, Ilona J.

    2013-01-01

    Infantile hemangiomas (IHs) are common neoplasms composed of proliferating endothelial-like cells. Despite the relative frequency of IH and the potential severity of complications, there are currently no uniform guidelines for treatment. Although propranolol has rapidly been adopted, there is significant uncertainty and divergence of opinion regarding safety monitoring, dose escalation, and its use in PHACE syndrome (PHACE = posterior fossa, hemangioma, arterial lesions, cardiac abnormalities, eye abnormalities; a cutaneous neurovascular syndrome characterized by large, segmental hemangiomas of the head and neck along with congenital anomalies of the brain, heart, eyes and/or chest wall). A consensus conference was held on December 9, 2011. The multidisciplinary team reviewed existing data on the pharmacologic properties of propranolol and all published reports pertaining to the use of propranolol in pediatric patients. Workgroups were assigned specific topics to propose protocols on the following subjects: contraindications, special populations, pretreatment evaluation, dose escalation, and monitoring. Consensus protocols were recorded during the meeting and refined after the meeting. When appropriate, protocol clarifications and revision were made and agreed upon by the group via teleconference. Because of the absence of high-quality clinical research data, evidence-based recommendations are not possible at present. However, the team agreed on a number of recommendations that arose from a review of existing evidence, including when to treat complicated IH; contraindications and pretreatment evaluation protocols; propranolol use in PHACE syndrome; formulation, target dose, and frequency of propranolol; initiation of propranolol in infants; cardiovascular monitoring; ongoing monitoring; and prevention of hypoglycemia. Where there was considerable controversy, the more conservative approach was selected. We acknowledge that the recommendations are conservative in

  1. Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus

    PubMed Central

    Zhao, Hui; Huang, Xiu-Feng; Zheng, Zhi-Li; Deng, Wen-Li; Lei, Xin-Lan; Xing, Dong-Jun; Ye, Liang; Xu, Su-Zhong; Chen, Jie; Zhang, Fang; Yu, Xin-Ping; Jin, Zi-Bing

    2016-01-01

    Objectives Infantile nystagmus (IN) is a genetically heterogeneous condition characterised by involuntary rhythmic oscillations of the eyes accompanied by different degrees of vision impairment. Two genes have been identified as mainly causing IN: FRMD7 and GPR143. The aim of our study was to identify the genetic basis of both sporadic IN and X-linked IN. Design Prospective analysis. Patients Twenty Chinese patients, including 15 sporadic IN cases and 5 from X-linked IN families, were recruited and underwent molecular genetic analysis. We first performed PCR-based DNA sequencing of the entire coding region and the splice junctions of the FRMD7 and GPR143 genes in participants. Mutational analysis and co-segregation confirmation were then performed. Setting All clinical examinations and genetic experiments were performed in the Eye Hospital of Wenzhou Medical University. Results Two mutations in the FRMD7 gene, including one novel nonsense mutation (c.1090C>T, p.Q364X) and one reported missense mutation (c.781C>G, p.R261G), were identified in two of the five (40%) X-linked IN families. However, none of putative mutations were identified in FRMD7 or GPR143 in any of the sporadic cases. Conclusions The results suggest that mutations in FRMD7 appeared to be the major genetic cause of X-linked IN, but not of sporadic IN. Our findings provide further insights into FRMD7 mutations, which could be helpful for future genetic diagnosis and genetic counselling of Chinese patients with nystagmus. PMID:27036142

  2. Effects of augmented tenotomy and reattachment in the infantile nystagmus syndrome

    PubMed Central

    Dell’Osso, Louis F.; Orge, Faruk H.; Jacobs, Jonathan B.

    2016-01-01

    Purpose To test the hypothesis that augmented tenotomy and reattachment surgery (AT-R), which involves placing an additional suture in each distal tendon during the 4-muscle tenotomy and reattachment (T-R) or other infantile nystagmus syndrome (INS) procedures, could increase the beneficial effects of many types of extraocular muscle (EOM) surgery to treat INS. Methods Both infrared reflection and high-speed digital video systems were used to record the eye movements in 4 patients with INS before and after AT-R surgery. Data were analyzed using the eXpanded Nystagmus Acuity Function (NAFX) that is part of the OMtools software. Results Placement of the augmentation suture did not interfere with Kestenbaum, Anderson, bilateral medial rectus muscle recession, or T-R surgeries. The therapeutic effects of AT-R were similar to but not equal to those from the traditional single-suture surgeries (ie, broadening longest foveation domain [LFD] but no improvement of NAFX peak). The average of the NAFX percent improvements after AT-R was within 31% of those estimated from NAFX values before T-R; the average of the percent broadenings of the LFD values after AT-R was within 16%. Conclusions The AT-R does not improve the foveation quality in INS above the traditional T-R surgery. It is not improved by an additional suture; indeed, some improvements may be diminished by the added suture. The hypothesized augmented-tendon suture technique (sans tenotomy) has been modified and remains to be tested. PMID:27330478

  3. Psychiatric disorders in individuals diagnosed with infantile autism as children: a case control study.

    PubMed

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben; Nedergaard, Niels Jørgen

    2008-01-01

    The objective of this study was to compare the prevalence and types of psychiatric disorders in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with psychiatric disorders in 336 matched controls from the general population using data from the nationwide Danish Psychiatric Central Register. The average observation time was 32.5 years, and mean age at follow-up was 40.6 years (range 25-55 years). Of the 118 individuals with IA, 57 (48.3%) had been in contact with psychiatric hospitals (inpatient hospitalization or outpatient visits) during the follow-up period, compared with 20/336 (6.0%) in the control group (p < 0.0001). This observation should alert general psychiatrists to the possibility of additional treatable psychiatric disorders occurring in individuals with IA. Of the 118 individuals in the IA group, 20 individuals (17%) had been given a comorbid psychiatric diagnosis during the observation period, compared with 9 individuals (2.7%) in the control group. Of the subjects with IA, 3.4% had received a diagnosis of schizophrenia (F20) at least once since the index admission in childhood, 0.8% had been diagnosed with delusional disorder (F22), 0.8% with acute psychotic disorder (F23), and 1.6% with unspecified non-organic psychosis (F29). In the control group, 0.9% had been diagnosed with schizophrenia (p = 0.08). In the group with IA, 3.4% had received a diagnosis in the broad category of affective disorders compared with 1.2% in the control group (p = 0.21). Issues associated with using registers in the ascertainment of co-occurring psychiatric disorders in IA are discussed.

  4. Comparative Study of Bone Marrow and Blood B Cells in Infantile and Acquired Agammaglobulinemia

    PubMed Central

    Abdou, Nabih I.; Casella, Salvatore R.; Abdou, Nancy L.; Abrahamsohn, Ises A.

    1973-01-01

    The status of immunoglobulin (Ig) receptors of the bone marrow dependent (B) cells present in either the bone marrow (BM) or peripheral blood (PB) of three patients with infantile agammaglobulinemia (I-AGG), or seven patients with acquired agammaglobulinemia (A-AGG) is compared with those of 12 controls. Quantitative and qualitative changes of the different classes of Ig receptors on B cells were evaluated by their capacity to bind [125I]anti-Ig, to be stained with fluorescinated anti-Ig and their in vitro proliferative capacity upon incubation with the anti-Ig. Patients with I-AGG lacked B cells in both the BM and PB. Whereas BM cells of patients with A-AGG carried receptors similar to control cells, their blood B cells had fewer IgM, IgG, and IgA cells which failed to proliferate in vitro in the presence of the anti-Ig. An anti-IgM of the IgG class was detected in the sera of patients with A-AGG but not in sera of I-AGG. The isolated anti-IgM agglutinated human red cells coated with IgM. The anti-IgM partially blocked the binding of fluorescinated or radiolabeled anti-IgM to IgM peripheral blood lymphocytes of normal controls. The eluted anti-IgM in presence of complement was partially cytotoxic to normal cells. It is concluded that I-AGG-B cell defect is due to failure of B cell development in the bone marrow compartment whereas the peripheral exclusion of IgM cells by an anti-IgM with the subsequent failure of differentiation of both IgG and IgA cells could be an important mechanism in A-AGG-B cell defect. PMID:4580388

  5. Analysis of the therapeutic evolution in the management of airway infantile hemangioma

    PubMed Central

    Vivas-Colmenares, Grecia V; Fernandez-Pineda, Israel; Lopez-Gutierrez, Juan Carlos; Fernandez-Hurtado, Miguel Angel; Garcia-Casillas, Maria Antonia; Matute de Cardenas, Jose Antonio

    2016-01-01

    AIM: To analyze the evolution in the management of airway infantile hemangioma (AIH) and to report the results from 3 pediatric tertiary care institutions. METHODS: A retrospective study of patients with diagnosis of AIH and treated in 3 pediatric tertiary care institutions from 1996 to 2014 was performed. RESULTS: Twenty-three patients with diagnosis of AIH were identified. Mean age at diagnosis was 6 mo (range, 1-27). Single therapy was indicated in 16 patients and 7 patients received combined therapy. Two therapeutic groups were identified: Group A included 14 patients who were treated with steroids, interferon, laser therapy and/or surgery; group B included 9 patients treated with oral propranolol. In group A, oral corticosteroids were used in 9 patients with a good response in 3 cases (no requiring other therapeutic option), the other patients required additional treatment options. Cushing syndrome was observed in 3 patients. One patient died of a fulminant sepsis. Open surgical excision and endoscopic therapy were performed in 11 patients (in 5 of them as a single treatment) with a response rate of 54.5%. Stridor persisted in 2 cases, and one patient died during the clinical course of bronchial aspiration. In group B, oral propranolol was used in 9 patients (in 8 of them as a single treatment) with a response rate of 100%, with an mean treatment duration of 7 mo (range, 5-10); complications were not observed. CONCLUSION: Our experience and the medical literature support the use of propranolol as a first line of treatment in AIH. PMID:26862508

  6. [Emotional self-regulation in infantile attention deficit hyperactivity disorder and P300 evoked potentials].

    PubMed

    Roca, Patricia; Mulas, Fernando; Ortiz-Sánchez, Pedro; Gandía-Benetó, Rubén

    2015-02-25

    Introduccion. Las dificultades de regulacion emocional en los pacientes con trastorno por deficit de atencion/hiperactividad (TDAH) han despertado un interes marcado en los ultimos años, y existe una linea de trabajo en la identificacion de correlatos neurofisiologicos. Objetivo. Analizar, en una muestra de niños con TDAH con y sin tratamiento, medidas de funcionamiento emocional y su correlacion con el componente P300. Pacientes y metodos. La muestra constaba de 71 niños con TDAH, de los que casi la mitad tomaba medicacion. Se analizo el potencial P300 auditivo. Los padres cumplimentaron una escala de comportamiento ejecutivo en el hogar –Behavior Rating Inventory of Executive Function (BRIEF)–, de la que se tomo el indice de autorregulacion emocional, y la escala de expresion emocional. Resultados. Se hallaron correlaciones significativas entre la amplitud del P300 y el indice de autorregulacion emocional de la version para preescolares del BRIEF, y se encontro relacion entre la latencia del P300 y la gravedad de los sintomas. Conclusion. Los resultados enfatizan la utilidad de los potenciales evocados para el estudio de correlatos ejecutivos y condiciones asociadas en el funcionamiento diario de los niños con TDAH.

  7. Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease)

    PubMed Central

    Katz, Martin L; Coates, Joan R; Sibigtroth, Christine M; Taylor, Jacob D; Carpentier, Melissa; Young, Whitney M; Wininger, Fred A; Kennedy, Derek; Vuillemenot, Brian R; O'Neill, Charles A

    2014-01-01

    Using a canine model of classical late-infantile neuronal ceroid lipofuscinosis (CLN2 disease), a study was conducted to evaluate the potential pharmacological activity of recombinant human tripeptidyl peptidase-1 (rhTPP1) enzyme replacement therapy administered directly to the cerebrospinal fluid (CSF). CLN2 disease is a hereditary neurodegenerative disorder resulting from mutations in CLN2, which encodes the soluble lysosomal enzyme tripeptidyl peptidase-1 (TPP1). Infants with mutations in both CLN2 alleles develop normally but in the late-infantile/early-childhood period undergo progressive neurological decline accompanied by pronounced brain atrophy. The disorder, a form of Batten disease, is uniformly fatal, with clinical signs starting between 2 and 4 years of age and death usually occurring by the early teenage years. Dachshunds homozygous for a null mutation in the canine ortholog of CLN2 (TPP1) exhibit a similar disorder that progresses to end stage at 10.5–11 months of age. Administration of rhTPP1 via infusion into the CSF every other week, starting at approximately 2.5 months of age, resulted in dose-dependent significant delays in disease progression, as measured by delayed onset of neurologic deficits, improved performance on a cognitive function test, reduced brain atrophy, and increased life span. Based on these findings, a clinical study evaluating the potential therapeutic value of rhTPP1 administration into the CSF of children with CLN2 disease has been initiated. PMID:24938720

  8. Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.

    PubMed

    Naiki, Misako; Ochi, Nobuhiko; Kato, Yusuke S; Purevsuren, Jamiyan; Yamada, Kenichiro; Kimura, Reiko; Fukushi, Daisuke; Hara, Shinya; Yamada, Yasukazu; Kumagai, Toshiyuki; Yamaguchi, Seiji; Wakamatsu, Nobuaki

    2014-05-01

    Mitochondrial trifunctional protein (MTP) is a hetero-octamer composed of four α- and four β-subunits that catalyzes the final three steps of mitochondrial β-oxidation of long chain fatty acids. HADHA and HADHB encode the α-subunit and the β-subunit of MTP, respectively. To date, only two cases with MTP deficiency have been reported to be associated with hypoparathyroidism and peripheral polyneuropathy. Here, we report on two siblings with autosomal recessive infantile onset hypoparathyroidism, peripheral polyneuropathy, and rhabdomyolysis. Sequence analysis of HADHA and HADHB in both siblings shows that they were homozygous for a mutation in exon 14 of HADHB (c.1175C>T, [p.A392V]) and the parents were heterozygous for the mutation. Biochemical analysis revealed that the patients had MTP deficiency. Structural analysis indicated that the A392V mutation identified in this study and the N389D mutation previously reported to be associated with hypoparathyroidism are both located near the active site of MTP and affect the conformation of the β-subunit. Thus, the present patients are the second and third cases of MTP deficiency associated with missense HADHB mutation and infantile onset hypoparathyroidism. Since MTP deficiency is a treatable disease, MTP deficiency should be considered when patients have hypoparathyroidism as the initial presenting feature in infancy.

  9. CHINESE HAMSTER OVARY CELL-DERIVED RECOMBINANT HUMAN ACID α-GLUCOSIDASE IN INFANTILE-ONSET POMPE DISEASE

    PubMed Central

    Kishnani, Priya Sunil; Nicolino, Marc; Voit, Thomas; Rogers, R. Curtis; Tsai, Anne Chun-Hui; Waterson, John; Herman, Gail E.; Amalfitano, Andreas; Thurberg, Beth L.; Richards, Susan; Davison, Mark; Corzo, Deyanira; Chen, YT

    2009-01-01

    Objective To conduct an open-label, multinational, multicenter study examining the safety and efficacy of recombinant human acid α-glucosidase (rhGAA) in treatment of infantile-onset Pompe disease. Study design We enrolled 8 infant patients who had Pompe disease with GAA activity <1% of normal, cardiomyopathy, and hypotonia. In the 52-week initial phase, rhGAA was infused intravenously at 10 mg/kg weekly; an extension phase continued survivors’ treatment with 10 to 20 mg/kg of rhGAA weekly or 20 mg/kg every 2 weeks for as long as 153 weeks. Safety measurements included adverse events, laboratory tests, and anti-rhGAA antibody titers. Efficacy evaluations included survival, ventilator use, echo-cardiograms, growth, and motor and cognitive function. Result After 52 weeks of treatment, 6 of 8 patients were alive, and 5 patients were free of invasive ventilator support. Clinical improvements included ameliorated cardiomyopathy and improved growth and cognition. Five patients acquired new motor milestones; 3 patients walked independently. Four patients died after the initial study phase; the median age at death or treatment withdrawal for all patients was 21.7 months, significantly later than expected for patients who were not treated. Treatment was safe and well tolerated; no death was drug-related. Conclusion rhGAA improved ventilator-free survival, cardiomyopathy, growth, and motor function in patients with infantile-onset Pompe disease compared with outcomes expected for patients without treatment. PMID:16860134

  10. Characterization and chromosomal mapping of a mouse ortholog of the late-infantile ceroid-lipofuscinosis gene CLN2.

    PubMed

    Katz, M L; Liu, P C; Grob-Nunn, S E; Shibuya, H; Johnson, G S

    1999-11-01

    Late-infantile ceroid-lipofuscinosis (CLN2) is an autosomal recessively inherited, neurodegenerative disease in humans. The CLN2 locus has been mapped to Chromosome (Chr) 11p15, and its sequence and genomic organization have recently been reported. In the present study, the cDNA sequence, exon/intron organization, and chromosomal localization of a mouse ortholog of the CLN2 gene are described. The mouse cDNA contains an open reading frame that predicts a protein product of 562 amino acids. The mouse and human coding regions are 86% and 88% identical at the nucleic acid and amino acid levels, respectively. One less codon appears in the mouse cDNA when compared with the human ortholog. The mouse gene (Cln2) spans more than 6 kb and consists of 13 exons separated by introns ranging in size from 111 to 1259 bp. Length polymorphism in an (AC)(n) microsatellite in intron 3 of the mouse Cln2 gene was used to perform segregation analysis with The Jackson Laboratory DNA Panel Mapping Resource. On the basis of this analysis, the Cln2 gene was localized to a region of mouse Chr 7 that corresponds to human Chr 11p15. Characterization of the mouse Cln2 gene will facilitate generation of a mouse model for late-infantile ceroid-lipofuscinosis by gene targeting and identification of functionally important regions of the Cln2 protein.

  11. Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).

    PubMed

    Katz, Martin L; Coates, Joan R; Sibigtroth, Christine M; Taylor, Jacob D; Carpentier, Melissa; Young, Whitney M; Wininger, Fred A; Kennedy, Derek; Vuillemenot, Brian R; O'Neill, Charles A

    2014-11-01

    Using a canine model of classical late-infantile neuronal ceroid lipofuscinosis (CLN2 disease), a study was conducted to evaluate the potential pharmacological activity of recombinant human tripeptidyl peptidase-1 (rhTPP1) enzyme replacement therapy administered directly to the cerebrospinal fluid (CSF). CLN2 disease is a hereditary neurodegenerative disorder resulting from mutations in CLN2, which encodes the soluble lysosomal enzyme tripeptidyl peptidase-1 (TPP1). Infants with mutations in both CLN2 alleles develop normally but in the late-infantile/early-childhood period undergo progressive neurological decline accompanied by pronounced brain atrophy. The disorder, a form of Batten disease, is uniformly fatal, with clinical signs starting between 2 and 4 years of age and death usually occurring by the early teenage years. Dachshunds homozygous for a null mutation in the canine ortholog of CLN2 (TPP1) exhibit a similar disorder that progresses to end stage at 10.5-11 months of age. Administration of rhTPP1 via infusion into the CSF every other week, starting at approximately 2.5 months of age, resulted in dose-dependent significant delays in disease progression, as measured by delayed onset of neurologic deficits, improved performance on a cognitive function test, reduced brain atrophy, and increased life span. Based on these findings, a clinical study evaluating the potential therapeutic value of rhTPP1 administration into the CSF of children with CLN2 disease has been initiated.

  12. Expression of components of the renin-angiotensin system in proliferating infantile haemangioma may account for the propranolol-induced accelerated involution.

    PubMed

    Itinteang, Tinte; Brasch, Helen D; Tan, Swee T; Day, Darren J

    2011-06-01

    Infantile haemangioma is a benign tumour of the microvasculature characterised by excessive proliferation of immature endothelial cells. It typically undergoes rapid proliferation during infancy followed by spontaneous slow involution during childhood often leaving a fibro-fatty residuum. In 2008, propranolol, a non-selective β-blocker, was serendipitously discovered to induce accelerated involution of a proliferating infantile haemangioma. However, the mechanism by which propranolol causes this dramatic effect is unclear. Using immunohistochemical staining, we show that the CD34+ endothelial progenitor cells of the microvessels in proliferating infantile haemangioma express angiotensin-converting enzyme and angiotensin II receptor-2, but not angiotensin II receptor-1. We have also shown using our in vitro explant model that the cells emanating from proliferating haemangioma biopsies form blast-like structures that proliferate in the presence of angiotensin II. We present here a plausible model involving the renin-angiotensin system that may account for the propranolol-induced accelerated involution of proliferating infantile haemangioma.

  13. Cytoplasmic expression of Wilms tumor transcription factor-1 (WT1): a useful immunomarker for young-type fibromatoses and infantile fibrosarcoma.

    PubMed

    Magro, Gaetano; Salvatorelli, Lucia; Vecchio, Giada Maria; Musumeci, Giuseppe; Rita, Alaggio; Parenti, Rosalba

    2014-09-01

    There is increasing evidence that Wilms' tumor transcription factor-1 (WT1) is expressed in the cytoplasm of neoplastic cells from different benign and malignant tumors. Only a few studies on WT1 cytoplasmic immunolocalization are available in pediatric tumors. The aim of the present study was to investigate immunohistochemically the expression and distribution of WT1 in a large series of soft tissue fibroblastic/myofibroblastic lesions occurring in children and adolescents. Notably WT1 was not expressed in nodular fasciitis and desmoid-type (adult) fibromatosis, while it stained diffusely and strongly in several infantile-type fibromatoses, such as fibrous hamartoma of infancy, myofibroma/myofibromatosis, and lipofibromatosis. Interestingly, WT1 cytoplasmic expression was also found in all cases (10/10) of infantile fibrosarcomas examined. The present study shows that a diffuse WT1 cytoplasmic expression is of complementary diagnostic value to conventional myofibroblastic markers (α-smooth muscle actin; desmin) in confirming diagnosis of young-type fibromatoses or infantile fibrosarcoma and in ruling out both desmoid-type fibromatoses and nodular fasciitis. WT1 cytoplasmic expression in infantile fibrosarcoma is a novel finding which could be exploitable as an immunomarker for this tumor. Although highly sensitive, WT1 cytoplasmic immunostaining is not specific for infantile fibrosarcoma, and thus it should be evaluated in the context of a wide immunohistochemical panel when pathologists are dealing with spindle cell lesions of soft tissues in children and adolescents. Accordingly we recommend that a correct diagnosis of fibroblastic/myofibroblastic soft tissue lesion in pediatric patients is usually achieved on the basis of a careful correlation of morphological and immunohistochemical findings in the appropriate clinical context. The different cellular localization of WT1, namely nuclear, cytoplasmic or nucleo-cytoplasmic, in different benign and malignant

  14. [Age-related transformation of infantile spasms into drug-resistant forms of epilepsy].

    PubMed

    Volkov, I V; Volkova, O K

    2012-01-01

    An objective of this paper was to study treatment outcomes in patients with infantile spasms (IS) in the evolutionary aspects and from the point of view of drug resistance. We have treated 124 children with IS. Standard therapy included hormones synacthen depot (0.03-0.05 mg/kg) or dexasone (0.3-0.5 mg.kg). The drug regimen was as follows: 10 injections daily initially, following with 5 injections every other day, then 5 injections every two days, plus a valproate in dose 30-40 mg/kg/day. Seventy-three patients were followed up: 21 patients continued to manifest spasms despite the use of several adequate and well-tolerated antiepileptic drugs (AEDs) as a monotherapy, as well as a combination therapy. The patients were divided into 2 groups. In Group 1 (n=12) the remission period was from 0 to 4 months, while in Group 2 (n=9) remission lasted from 7 months up to 4 years. The patients demonstrated all types of IS and modified hypsarrhythmia. In Group 1, the patients were relieved of IS in 66% of the cases and the EEGs showed no epileptic activity in 58%. 83% of the patients then experienced a return of IS and 50% of the patients had hypsarrhythmia. Adding 2 and 3 AEDs to the treatment did not bring any change. A transformation of hypsarrhythmia was observed as the patients grew older. All patients in Group 2 had a cessation of IS, and 77% of the patients had no hypsarrhythmia. In one third of the cases, the IS returned while the other two thirds had focal seizures. EEGs predominantly demonstrated the focal epileptic activity. Adding 2 AEDs had positive effect on seizures in 66% of the cases and EEGs improved in 88% of the cases. Adding 3 AEDs had no effect on the course of the condition in one third of the cases, and in most cases the EEGs did not change. In Group 1, the condition was of drug-resistant nature, and in Group 2 we saw a remission in the condition. After the hormone regimen was completed, a relief of the epileptic activity was achieved for most patients

  15. Infantile hemangioma-derived stem cells and endothelial cells are inhibited by class 3 semaphorins

    SciTech Connect

    Nakayama, Hironao; Huang, Lan; Kelly, Ryan P.; Oudenaarden, Clara R.L.; Dagher, Adelle; Hofmann, Nicole A.; Moses, Marsha A.; Bischoff, Joyce; Klagsbrun, Michael

    2015-08-14

    Class 3 semaphorins were discovered as a family of axon guidance molecules, but are now known to be involved in diverse biologic processes. In this study, we investigated the anti-angiogenic potential of SEMA3E and SEMA3F (SEMA3E&F) in infantile hemangioma (IH). IH is a common vascular tumor that involves both vasculogenesis and angiogenesis. Our lab has identified and isolated hemangioma stem cells (HemSC), glucose transporter 1 positive (GLUT1{sup +}) endothelial cells (designated as GLUT1{sup sel} cells) based on anti-GLUT1 magnetic beads selection and GLUT1-negative endothelial cells (named HemEC). We have shown that these types of cells play important roles in hemangiogenesis. We report here that SEMA3E inhibited HemEC migration and proliferation while SEMA3F was able to suppress the migration and proliferation in all three types of cells. Confocal microscopy showed that stress fibers in HemEC were reduced by SEMA3E&F and that stress fibers in HemSC were decreased by SEMA3F, which led to cytoskeletal collapse and loss of cell motility in both cell types. Additionally, SEMA3E&F were able to inhibit vascular endothelial growth factor (VEGF)-induced sprouts in all three types of cells. Further, SEMA3E&F reduced the level of p-VEGFR2 and its downstream p-ERK in HemEC. These results demonstrate that SEMA3E&F inhibit IH cell proliferation and suppress the angiogenic activities of migration and sprout formation. SEMA3E&F may have therapeutic potential to treat or prevent growth of highly proliferative IH. - Highlights: • SEMA3E&F reduce actin stress fibers and induce cytoskeletal collapse in HemEC. • SEMA3E&F inhibit angiogenic activities of HemEC. • SEMA3E&F can interrupt the VEGF-A-VEGFR2-ERK signaling pathway in HemEC. • Plexin D1 and NRP2 are induced during HemSC/GLUT1{sup sel}-to-EC differentiation.

  16. [COMPARISON OF FREE CARNITINE LEVELS WITH NUTRITIONAL STATUS IN INFANTILE NEPHROPATHYC CISTINOSIS PATIENTS].

    PubMed

    Guillén-López, Sara; Ibarra-González, Isabel; Belmont Martínez, Leticia; Juárez-Cruz, Merit Valeria; Vela-Amieva, Marcela

    2015-12-01

    Introducción: la cistinosis nefropática infantil (CNI) es una enfermedad genética debida a un defecto del transporte de la cistina, con la subsecuente acumulación de este aminoácido predominantemente en el riñón. Existen pocos estudios sobre la evaluación del estado nutricional en pacientes con esta patología, pero se sabe que tienen una excreción de carnitina urinaria aumentada, lo que puede dar como resultado una deficiencia plasmática y muscular de este compuesto; sin embargo, la suplementación de carnitina en CNI es controversial. Objetivo: comparar la concentración sanguínea de carnitina libre (C0) con el estado nutricional de una cohorte de pacientes con CNI. Material y métodos: evaluación antropométrica mediante la medición de peso, talla, perímetro braquial (PB) y pliegue cutáneo tricipital (PCT). La C0 se cuantificó mediante espectrometría de masas en tándem en muestras de sangre en ayuno. Resultados: se analizaron 10 pacientes con CNI, 5 con y 5 sin trasplante renal. De acuerdo con el IMC, 3/10 presentaron desnutrición. La reserva de masa magra se encontró baja en 8/10 pacientes (3 no trasplantados y todos los trasplantados). El PB mostró correlación con las concentraciones sanguíneas de C0 (r2 = 0,353); Los pacientes no trasplantados tuvieron niveles de C0 significativamente más bajos que los trasplantados (Chi2 = 0,0027). Conclusión: en esta población de pacientes con CNI se encontró un 70% de sujetos con C0 baja, que se correlaciona con la masa magra disminuida. Es recomendable hacer una evaluación nutricional de rutina que incluya los tres parámetros antropométricos como parte del seguimiento médico-nutricional integral de estos pacientes.

  17. [The Laboratório de Biologia Infantil, 1935-1941: from forensic medicine to social assistance].

    PubMed

    Silva, Renato da

    2011-12-01

    This analysis of the history of the Laboratório de Biologia Infantil (Children's Biology Laboratory) discusses topics related to childhood and adolescence published in the Arquivos de Medicina Legal e Identificação do Rio de Janeiro. It underscores the political-institutional and intellectual contexts that prompted the 1930s debate about childhood among physicians, teachers, educators, and politicians, with a special focus on Leonídio Ribeiro, founder and first editor of the journal. The Laboratório inaugurated a medical and scientific routine for studying, treating, and providing assistance within institutions that had been created to repress, care for, and cure, and as such it represented an important chapter in the history of so-called abandoned and delinquent childhood.

  18. [The Laboratório de Biologia Infantil, 1935-1941: from forensic medicine to social assistance].

    PubMed

    Silva, Renato da

    2011-12-01

    This analysis of the history of the Laboratório de Biologia Infantil (Children's Biology Laboratory) discusses topics related to childhood and adolescence published in the Arquivos de Medicina Legal e Identificação do Rio de Janeiro. It underscores the political-institutional and intellectual contexts that prompted the 1930s debate about childhood among physicians, teachers, educators, and politicians, with a special focus on Leonídio Ribeiro, founder and first editor of the journal. The Laboratório inaugurated a medical and scientific routine for studying, treating, and providing assistance within institutions that had been created to repress, care for, and cure, and as such it represented an important chapter in the history of so-called abandoned and delinquent childhood. PMID:22281962

  19. Epidemiologic evidence supporting the role of maternal vitamin D deficiency as a risk factor for the development of infantile autism.

    PubMed

    Grant, William B; Soles, Connie M

    2009-07-01

    This study examines whether maternal vitamin D deficiency is a risk factor for infantile autism disease (IAD). We used epidemiologic data seasonal variation of birth rates and prevalence of IAD for cohorts born before 1985. For seven studies reporting spring-to-summer excess birth rates for IAD, the season progressed from broad near 30 degrees N latitude, spring/summer in midlatitudes, to winter at the highest latitude. Also, using data from 10 studies, we found a strong effective latitudinal (related to wintertime solar ultraviolet B radiation) increase in IAD prevalence. These findings are consistent with maternal vitamin D deficiency's being a risk factor for IAD, possibly by affecting fetal brain development as well as possibly by affecting maternal immune system status during pregnancy. Further investigation of this hypothesis is warranted. PMID:20592795

  20. "Dancing on eggs": Charles H. Bynum, racial politics, and the National Foundation for Infantile Paralysis, 1938-1954.

    PubMed

    Mawdsley, Stephen E

    2010-01-01

    In 1938, President Franklin D. Roosevelt and his law partner Basil O'Connor formed the National Foundation for Infantile Paralysis (NFIP) to battle the viral disease poliomyelitis. Although the NFIP program was purported to be available for all Americans irrespective of "race, creed, or color," officials encountered numerous difficulties upholding this pledge in a nation divided by race. In 1944, NFIP officials hired educator Charles H. Bynum to head a new department of "Negro Activities." Between 1944 and 1954, Bynum negotiated the NFIP bureaucracy to educate officials and influence their national health policy. As part of the NFIP team, he helped increase interracial fund-raising in the March of Dimes, improve polio treatment for black Americans, and further the civil rights movement. PMID:20657055

  1. "Dancing on eggs": Charles H. Bynum, racial politics, and the National Foundation for Infantile Paralysis, 1938-1954.

    PubMed

    Mawdsley, Stephen E

    2010-01-01

    In 1938, President Franklin D. Roosevelt and his law partner Basil O'Connor formed the National Foundation for Infantile Paralysis (NFIP) to battle the viral disease poliomyelitis. Although the NFIP program was purported to be available for all Americans irrespective of "race, creed, or color," officials encountered numerous difficulties upholding this pledge in a nation divided by race. In 1944, NFIP officials hired educator Charles H. Bynum to head a new department of "Negro Activities." Between 1944 and 1954, Bynum negotiated the NFIP bureaucracy to educate officials and influence their national health policy. As part of the NFIP team, he helped increase interracial fund-raising in the March of Dimes, improve polio treatment for black Americans, and further the civil rights movement.

  2. Retrospective follow up of gross motor development in children using propranolol for treatment of infantile haemangioma at Sydney Children's Hospital.

    PubMed

    Gonski, Kate; Wargon, Orli

    2014-08-01

    Questions have been raised as to whether propranolol, which crosses the blood-brain barrier, when used early in life may have an adverse effect on gross motor development. A retrospective survey asking questions about gross motor development was sent to the families of children who had been prescribed oral propranolol for infantile haemangioma at Sydney Children's Hospital between 2008 and 2013. It was found that of the 84 patients surveyed, four were delayed in walking unassisted. There was a statistically significant influence if the child was taking other medications which included prednisolone, vincristine, omeprazole, ranitidine, salbutamol, Flixotide, Timoptol and antibiotics. This was not further analysed in this study because of the low numbers involved. There was no statistically significant influence of gestational age, birth weight or length of time on propranolol. This study adds to the retrospective data available; however large-scale prospective studies are needed to identify unexpected long-term side-effects.

  3. Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES).

    PubMed

    Pardo, Carlos A; Nabbout, Rima; Galanopoulou, Aristea S

    2014-04-01

    The mechanisms of epileptogenesis in pediatric epileptic syndromes are diverse, and may involve disturbances of neurodevelopmental trajectories, synaptic homeostasis, and cortical connectivity, which may occur during brain development, early infancy, or childhood. Although genetic or structural/metabolic factors are frequently associated with age-specific epileptic syndromes, such as infantile spasms and West syndrome, other syndromes may be determined by the effect of immunopathogenic mechanisms or energy-dependent processes in response to environmental challenges, such as infections or fever in normally-developed children during early or late childhood. Immune-mediated mechanisms have been suggested in selected pediatric epileptic syndromes in which acute and rapidly progressive encephalopathies preceded by fever and/or infections, such as febrile infection-related epilepsy syndrome, or in chronic progressive encephalopathies, such as Rasmussen encephalitis. A definite involvement of adaptive and innate immune mechanisms driven by cytotoxic CD8(+) T lymphocytes and neuroglial responses has been demonstrated in Rasmussen encephalitis, although the triggering factor of these responses remains unknown. Although the beneficial response to steroids and adrenocorticotropic hormone of infantile spasms, or preceding fever or infection in FIRES, may support a potential role of neuroinflammation as pathogenic factor, no definite demonstration of such involvement has been achieved, and genetic or metabolic factors are suspected. A major challenge for the future is discovering pathogenic mechanisms and etiological factors that facilitate the introduction of novel targets for drug intervention aimed at interfering with the disease mechanisms, therefore providing putative disease-modifying treatments in these pediatric epileptic syndromes. PMID:24639375

  4. Evaluation of the efficacy and safety of topical timolol maleate combined with oral propranolol treatment for parotid mixed infantile hemangiomas

    PubMed Central

    Tong, Shuang; Xu, Da-Peng; Liu, Zi-Mei; Du, Yang; Wang, Xu-Kai

    2016-01-01

    The aim of the present study was to assess the efficacy and safety of topical timolol maleate combined with oral propranolol for parotid infantile hemangiomas. Between October 2012 and April 2014, propranolol was administered orally at a dose of 1.0–1.5 mg/kg/day to 22 infants with proliferating hemangiomas in the Department of Oral and Maxillofacial Surgery (Hospital of Stomatology, China Medical University, Shenyang, Liaoning, China). A small amount of 0.5% timolol maleate eye drop solution was topically applied with medical cotton swabs to the area of the lesion twice a day, every 12 h. The study group consisted of 9 males and 13 females, aged 2–9 months, with a median age of 4.7 months. The lesions were all located in the parotid region, and measured between 3.5×4×0.5 and 7×8×3 cm in volume. The planned duration of therapy was 6–8 months, or the two drugs were stopped when complete regression of the lesions was obtained. The therapeutic outcomes and safety were assessed by the change in the size and color of the tumor, and the presence of adverse effects throughout the course of treatment. The mean duration of therapy was 21.1 weeks and ranged from 3 to 8 months. Of the 22 patients, 16 demonstrated an excellent response, 6 showed a good response and 2 displayed a moderate response. No major collateral effects were observed. Overall, oral propranolol combined with topical timolol maleate may be used as the first-line therapeutic choice in the treatment of infantile parotid mixed hemangioma. PMID:27588127

  5. Three horizontal muscle surgery for large-angle infantile esotropia: validation of a table of amounts of surgery

    PubMed Central

    Camuglia, J E; Walsh, M J; Gole, G A

    2011-01-01

    Purpose To validate a table of amounts of three horizontal muscle surgery in patients with large-angle infantile esotropia (≥60 prism dioptres, PD). Methods A prospective interventional case series reporting the postoperative alignment of 51 patients (27 male, 24 female) over a 15-year period was conducted. Surgery amounts were according to a published table developed on a previous patient cohort (n=49), using bilateral medial rectus recession with graded unilateral lateral rectus resection. Kaplan–Meier life-table survival curves were formulated for success to orthotropia (±10 PD) after one and subsequent horizontal muscle surgeries for up to 8 years follow-up. Results The median preoperative deviation was 65 PD (range 60–80 PD) and median age at surgery was 11.8 months (range 5.1 months–3.6 years). Surgical success to orthotropia (±10 PD) after one surgery was 100% at 2 months, 95.7% at 6 months, 91.3% at 12 months, 77.8% at 4 years, and 73.6% at 8 years. Postoperative failure requiring further horizontal surgery occurred in 17.6% (residual esotropia 4, consecutive exotropia 5). Conclusions Our second cohort has reproduced the success rate of the previous cohort (77.8% vs 77.1% at 4 years). If the published table of surgical amounts is used, three horizontal muscle surgery in large-angle infantile esotropia (≥60 PD) appears to have a good long-term success rate, and does not lead to the high rates of either residual esotropia or consecutive exotropia reported by others in the literature. PMID:21818127

  6. Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families.

    PubMed

    Okuda, Hiroko; Noguchi, Atsuko; Kobayashi, Hatasu; Kondo, Daiki; Harada, Kouji H; Youssefian, Shohab; Shioi, Hirotomo; Kabata, Risako; Domon, Yuki; Kubota, Kazufumi; Kitano, Yutaka; Takayama, Yasunori; Hitomi, Toshiaki; Ohno, Kousaku; Saito, Yoshiaki; Asano, Takeshi; Tominaga, Makoto; Takahashi, Tsutomu; Koizumi, Akio

    2016-01-01

    Painful peripheral neuropathy has been correlated with various voltage-gated sodium channel mutations in sensory neurons. Recently Nav1.9, a voltage-gated sodium channel subtype, has been established as a genetic influence for certain peripheral pain syndromes. In this study, we performed a genetic study in six unrelated multigenerational Japanese families with episodic pain syndrome. Affected participants (n = 23) were characterized by infantile recurrent pain episodes with spontaneous mitigation around adolescence. This unique phenotype was inherited in an autosomal-dominant mode. Linkage analysis was performed for two families with 12 affected and nine unaffected members, and a single locus was identified on 3p22 (LOD score 4.32). Exome analysis (n = 14) was performed for affected and unaffected members in these two families and an additional family. Two missense variants were identified: R222H and R222S in SCN11A. Next, we generated a knock-in mouse model harboring one of the mutations (R222S). Behavioral tests (Hargreaves test and cold plate test) using R222S and wild-type C57BL/6 (WT) mice, young (8-9 weeks old; n = 10-12 for each group) and mature (36-38 weeks old; n = 5-6 for each group), showed that R222S mice were significantly (p < 0.05) more hypersensitive to hot and cold stimuli than WT mice. Electrophysiological studies using dorsal root ganglion neurons from 8-9-week-old mice showed no significant difference in resting membrane potential, but input impedance and firing frequency of evoked action potentials were significantly increased in R222S mice compared with WT mice. However, there was no significant difference among Nav1.9 (WT, R222S, and R222H)-overexpressing ND7/23 cell lines. These results suggest that our novel mutation is a gain-of-function mutation that causes infantile familial episodic pain. The mouse model developed here will be useful for drug screening for familial episodic pain syndrome associated with SCN11A mutations. PMID:27224030

  7. Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families

    PubMed Central

    Kondo, Daiki; Harada, Kouji H.; Youssefian, Shohab; Shioi, Hirotomo; Kabata, Risako; Domon, Yuki; Kubota, Kazufumi; Kitano, Yutaka; Takayama, Yasunori; Hitomi, Toshiaki; Ohno, Kousaku; Saito, Yoshiaki; Asano, Takeshi; Tominaga, Makoto

    2016-01-01

    Painful peripheral neuropathy has been correlated with various voltage-gated sodium channel mutations in sensory neurons. Recently Nav1.9, a voltage-gated sodium channel subtype, has been established as a genetic influence for certain peripheral pain syndromes. In this study, we performed a genetic study in six unrelated multigenerational Japanese families with episodic pain syndrome. Affected participants (n = 23) were characterized by infantile recurrent pain episodes with spontaneous mitigation around adolescence. This unique phenotype was inherited in an autosomal-dominant mode. Linkage analysis was performed for two families with 12 affected and nine unaffected members, and a single locus was identified on 3p22 (LOD score 4.32). Exome analysis (n = 14) was performed for affected and unaffected members in these two families and an additional family. Two missense variants were identified: R222H and R222S in SCN11A. Next, we generated a knock-in mouse model harboring one of the mutations (R222S). Behavioral tests (Hargreaves test and cold plate test) using R222S and wild-type C57BL/6 (WT) mice, young (8–9 weeks old; n = 10–12 for each group) and mature (36–38 weeks old; n = 5–6 for each group), showed that R222S mice were significantly (p < 0.05) more hypersensitive to hot and cold stimuli than WT mice. Electrophysiological studies using dorsal root ganglion neurons from 8–9-week-old mice showed no significant difference in resting membrane potential, but input impedance and firing frequency of evoked action potentials were significantly increased in R222S mice compared with WT mice. However, there was no significant difference among Nav1.9 (WT, R222S, and R222H)-overexpressing ND7/23 cell lines. These results suggest that our novel mutation is a gain-of-function mutation that causes infantile familial episodic pain. The mouse model developed here will be useful for drug screening for familial episodic pain syndrome associated with SCN11A mutations

  8. Nueva opción de tratamiento para mujeres jóvenes con cáncer de seno sensible a las hormonas

    Cancer.gov

    Un fármaco usado para el tratamiento del cáncer de seno (mama), conocido como exemestano, es más eficaz que tamoxifeno, un fármaco preventivo de uso común para el cáncer de seno, en la prevención de la recidiva del cáncer de seno en mujeres jóvenes que ta

  9. Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

    PubMed Central

    Cartault, François; Munier, Patrick; Benko, Edgar; Desguerre, Isabelle; Hanein, Sylvain; Boddaert, Nathalie; Bandiera, Simonetta; Vellayoudom, Jeanine; Krejbich-Trotot, Pascale; Bintner, Marc; Hoarau, Jean-Jacques; Girard, Muriel; Génin, Emmanuelle; de Lonlay, Pascale; Fourmaintraux, Alain; Naville, Magali; Rodriguez, Diana; Feingold, Josué; Renouil, Michel; Munnich, Arnold; Westhof, Eric; Fähling, Michael; Lyonnet, Stanislas; Henrion-Caude, Alexandra

    2012-01-01

    The human genome is densely populated with transposons and transposon-like repetitive elements. Although the impact of these transposons and elements on human genome evolution is recognized, the significance of subtle variations in their sequence remains mostly unexplored. Here we report homozygosity mapping of an infantile neurodegenerative disease locus in a genetic isolate. Complete DNA sequencing of the 400-kb linkage locus revealed a point mutation in a primate-specific retrotransposon that was transcribed as part of a unique noncoding RNA, which was expressed in the brain. In vitro knockdown of this RNA increased neuronal apoptosis, consistent with the inappropriate dosage of this RNA in vivo and with the phenotype. Moreover, structural analysis of the sequence revealed a small RNA-like hairpin that was consistent with the putative gain of a functional site when mutated. We show here that a mutation in a unique transposable element-containing RNA is associated with lethal encephalopathy, and we suggest that RNAs that harbor evolutionarily recent repetitive elements may play important roles in human brain development. PMID:22411793

  10. Topical propranolol cream in treatment of superficial infantile hemangiomas: a literature review and 4 years of clinical experience.

    PubMed

    Kovačević, Maja; Lukinović Škudar, Vesna; Maričić, Goran; Krnjević-Pezić, Gordana; Stanimirović, Andrija

    2014-01-01

    The clinical efficacy and safety profile of propranolol 1% cream in treatment of superficial infantile hemangiomas (IHs) were determined in a preliminary randomized group of eight infants. Five boys and three girls, 3 to 12 months old, with an IHs superficial capillary type on the forehead, posterior side of the neck, forearm, abdomen, or posterior side of the trunk were examined at our outpatient clinic between 2011 and 2014. Topical propranolol was applied twice daily for 10 months with clinical evaluation and photographic documentation performed every 1 to 2 months. Size, texture, and color changes were monitored. Therapeutic efficacy was evaluated using the Archauer system: Grade I (bad) reduction in size < 25%, Grade II (medium) reduction between 26% and 50%, Grade III (good) reduction between 51% and 75%, and Grade IV (excellent) reduction > 75%. The majority of hemangiomas treated, 62.5%, achieved Grade IV. A Grade III outcome was noticed in one patient with an IH (12.5%) and Grade II in 25% of patients with IHs on the abdomen. The treatment was well tolerated without side effects, which indicates that topical application of 1% propranolol is a safe, effective, and cheap therapeutic option for treating superficial IHs. PMID:25527040

  11. [An evaluation of the 4 years of the Oral Rehydration Service of the Hospital Infantil de Monterrey].

    PubMed

    Muraira-Gutiérrez, A; Méndez-Jara, A; Ruiz-Villalpando, G

    1992-06-01

    At four years of being founded the Service of Oral Hydration from Hospital Infantil de Monterrey, we carried out this investigation to know its productivity, to determine costs of internments, death rates due to diarrhea and dehydration in the hospital and at a State level. The statistics from the hospital were revised in the previous and subsequent years to the institution of the Service in September of 1986, so as the statistics of death due to diarrhea from the State Health Department. The cases attended were 12,139, from which 9,024 belonged to plan A, 2,983 to plan B and 72 to plan C. Three hundred (300) doctors were trained and nine (9) research studies were accomplished. A decrease was achieved from the hospital rate admission by diarrhea and dehydration, throw the oral dehydration therapy in a 66%, the mortality rate was reduced 72% and an expenditure of $619,243,480.00 pesos in drugs and auxiliary examinations of diagnostic was avoided. At a State level the general death rate due to diarrhea got a cutdown of 13.1 to 5.8, and in infants under a year old decreased from 275 to 122.3. The oral hydration therapy applied in the State seems to be the main reason in that results.

  12. Pentalogy of Cantrell: Forty-two Years of Experience in the Hospital Infantil de Mexico Federico Gomez.

    PubMed

    Balderrábano-Saucedo, Norma; Vizcaíno-Alarcón, Alfredo; Sandoval-Serrano, Erika; Segura-Stanford, Begoña; Arévalo-Salas, Luis A; de la Cruz, Lorenzo Reyes; Espinosa-Islas, Gonzalo; Puga-Muñuzuri, Francisco Javier

    2011-04-01

    Pentalogy of Cantrell is a rare disease. Approximately 185 cases have been reported around the world. The authors performed a retrospective study that reviewed the clinical files and pathological samples of 22 cases of pentalogy of Cantrell treated at the Hospital Infantil de México Federico Gómez. Thirteen patients had ectopia cordis associated with pentalogy of Cantrell (group I), and there were 9 cases without ectopia cordis (group II). In group I, the following types of congenital heart disease were found: single ventricle (4), double-outlet right ventricle (4), ventricular septal defect (3), aortic coarctation (1), and atrial septal defect (1). In group II, the following types of congenital heart disease were found: double-outlet right ventricle (3), double-inlet left ventricle (2), ventricular septal defect (2), tetralogy of Fallot (1), and hypoplastic right ventricle syndrome (1). Nine cases had a ventricular diverticulum (40%). Ten patients (45%) had some other congenital anomaly associated with pentalogy of Cantrell. Thirteen patients underwent surgery (59%), which included cardiac surgery in 10 cases (45%). Sixteen patients died (73%): 11 from group I and 5 from group II (P < .05). Little more than 50 years since it was first described, pentalogy of Cantrell remains a disease with high mortality, especially in patients with associated ectopia cordis.

  13. [Severe malnutrition: epidemiological and clinical characteristics of children hospitalized in the Instituto Materno Infantil de Pernambuco (IMIP), Brazil].

    PubMed

    Falbo, Ana Rodrigues; Alves, João Guilherme Bezerra

    2002-01-01

    Ninety-nine children admitted to the Instituto Materno Infantil de Pernambuco with severe malnutrition from May 1999 to May 2000 were investigated in a cross-sectional study focusing on key epidemiological and clinical variables. The majority of the children (88.9%) were less than 6 months of age, 42.4% had a history of low birth weight, and 36.4% were premature. Some 19.2% had never been breastfed, and 49.5% had been breastfed for less than 2 months. Some 15.2% of the mothers were illiterate. Most of the families (86.1%) had incomes less than twice the minimum wage (approximately US$150/month), and 51.5% had migrated from rural areas. Only 26.3% of the homes had running water, and 40.4% lacked sewage disposal facilities. Diarrhea was the reason for hospital admission in 55.6% of the cases. Hospital mortality was 34.3% in this group.

  14. Palivizumab outcomes registry data from Spain: Infección Respiratoria Infantil por Virus Respiratorio Sincitial (IRIS) Study Group.

    PubMed

    Carbonell-Estrany, Xavier

    2003-02-01

    Respiratory syncytial virus (RSV) is the leading cause of lower respiratory illness in children <2 years of age. Severe RSV infection requiring hospitalization is linked to gestational age, chronic cardiopulmonary conditions and immunosuppression. The Infección Respiratoria Infantil por Virus Respiratorio Sincitial (IRIS) Study group in Spain conducted two pivotal epidemiologic studies establishing that serious RSV illness among premature infants was responsible for high rehospitalization rates (approximately 13%). RSV lower respiratory tract illness also correlated with prolonged hospital stay and more intensive care unit admissions. In Europe recent availability of palivizumab, a humanized monoclonal antibody to RSV, is a major therapeutic advancement directed against prevention of lower respiratory tract infection secondary to this viral pathogen. To ensure proper and optimal usage of palivizumab, the IRIS group, in conjunction with the Spanish Neonatology Group, developed prophylaxis guidelines for neonates. Palivizumab prophylaxis is strongly recommended in premature infants < or =28 weeks gestation or those affected with chronic lung disease. Additionally, palivizumab is recommended for infants with a gestational age of 29 to 32 weeks, without evidence of chronic lung disease and who are <6 months old at the onset of the RSV season. It was thought that slightly older premature infants (33 to 35 weeks gestational age) should be assessed on an individual basis to determine whether prophylaxis is warranted. The IRIS Study Group is currently determining the effectiveness of these recommendations by measuring the incidence of RSV-related hospital admissions in infants born at < or =32 weeks gestational age who are receiving palivizumab prophylaxis.

  15. Clinical-epidemiological profile of children with schistosomal myeloradiculopathy attended at the Instituto Materno-Infantil de Pernambuco.

    PubMed

    Araújo, Karina Conceição G M; Rosa e Silva, Cristiana da; Barbosa, Constança Simões; Ferrari, Teresa C A

    2006-09-01

    The most critical phase of exposure to schistosomal infection is the infancy, because of the more frequent contact with contaminated water and the immaturity of the immune system. One of the most severe presentations of this parasitosis is the involvement of the spinal cord, which prognosis is largely dependent on early diagnosis and treatment. Reports on this clinical form of schistosomiasis in children are rare in the literature. We present here the clinical-epidemiological profile of schistosomal myeloradiculopathy (SMR) from ten children who were admitted at the Instituto Materno-Infantil de Pernambuco over a five-year period. They were evaluated according to an investigation protocol. Most of these patients presented an acute neurological picture which included as the main clinical manifestations: sphincteral disorders, low back and lower limbs pain, paresthesia, lower limbs muscle weakness and absence of deep tendon reflex, and impairment of the gait. The diagnosis was presumptive in the majority of the cases. This study emphasizes the importance of considering the diagnosis of SMR in pediatric patients coming from endemic areas who present a low cord syndrome, in order to start the appropriate therapy and avoid future complications.

  16. A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera.

    PubMed

    Galvin, Nancy; Vogler, Carole; Levy, Beth; Kovacs, Attila; Griffey, Megan; Sands, Mark S

    2008-01-01

    Infantile neuronal ceroid lipofuscinosis (INCL), also known as Santavuori-Haltia disease, is an inherited neurodegenerative disorder caused by a mutation in the gene encoding the lysosomal enzyme palmitoyl-protein-thioesterase-1 (PPT1). Fatty acid-modified proteins are not degraded and accumulate as granular osmiophilic deposits in cells in the central nervous system; patients have blindness, seizures, progressive psychomotor deterioration, and die in early childhood. Although the disease manifests clinically primarily with neurological symptoms, visceral storage also accumulates. A murine model of INCL due to PPT1 deficiency exhibits clinical findings and pathology similar to those seen in patients with INCL. Homozygous PPT1-deficient mice have a shortened life span and neurological abnormalities including seizures, blindness, and mental and motor deficits. Widespread granular osmiophilic deposits (GRODs) accumulate in lysosomes in neurons and glia in the brain, retinal cells, kidney glomerular cells, aortic smooth muscle cells, and, in lesser amounts, in the fixed-tissue macrophage system. Accumulation of GRODs in aortic smooth muscle cells is accompanied by abnormalities in cardiac function and aortic root dilatation. This PPT1-deficient murine model is a well-defined genetic system that can be used to test potential therapies for lysosomal storage disease and to study the pathophysiology of INCL. PMID:17990914

  17. [The course of infantile autism through adulthood. An overview of long-term follow-up data].

    PubMed

    Schonauer, K; Klar, M; Kehrer, H E; Arolt, V

    2001-05-01

    The symptoms of infantile autism were first described almost 60 years ago. In contrast to its course in puberty and adolescence, follow-up-data on the late course in adulthood are decidedly sparse. As the outcome of research in the literature, we found 21 methodologically heterogeneous follow-up-studies. The arithmetic mean age of all subjects investigated was 24.0 years. The results are supplemented by various case reports and sporadic biographical reports by affected persons. On the basis of the available data, the discontinuous and dynamic changes of course verified in puberty and adolescence are not applicable to the third and fourth decades to the same extent. Gains in competence and autonomy appear to develop in the vocational rather than in the domestic sphere. The significantly more favorable courses of the form described by Asperger are continued in adulthood. The disorder-associated lack of empathy and social interaction is by no means experienced in terms of self-satisfaction by those concerned but rather as a loss. Interpersonal sexual needs are expressed by a substantial proportion of autistic adults. The cumulative mortality rates of the follow-up-studies suggest that the mortality rate among autistic patients is higher than among their non-autistic peers.

  18. A reversal learning task detects cognitive deficits in a Dachshund model of late-infantile neuronal ceroid lipofuscinosis

    PubMed Central

    Sanders, Douglas N.; Kanazono, Shinichi; Wininger, Fred A.; Whiting, Rebecca E.H.; Flournoy, Camille A.; Coates, Joan R.; Castaner, Lani J.; O’Brien, Dennis P.; Katz, Martin L.

    2011-01-01

    The neuronal ceroid lipofuscinoses (NCLs) are autosomal recessive lysosomal storage diseases characterized by progressive neurodegeneration and by accumulation of autofluorescent storage material in the central nervous system and other tissues. One of the most prominent clinical signs of NCL is progressive decline in cognitive function. We previously described a frame shift mutation of TPP1 in miniature long-haired Dachshunds which causes an early-onset form of NCL analogous to classical late-infantile onset NCL (CLN2) in children. Dogs homozygous for the TPP1 mutation exhibit progressive neurological signs similar to those exhibited by human patients. In order to establish biomarkers for evaluating the efficacy of ongoing therapeutic studies in this canine model, we characterized phenotypic changes in 13 dogs through 9 months of age. Cognitive function was assessed using a T-maze reversal learning task. Cognitive dysfunction was detected in affected dogs as early as 6 months of age and worsened as the disease progressed. Physical and neurological examination, funduscopy, and electroretinography (ERG) were performed at regular intervals. Only changes in ERG responses revealed signs of disease progression earlier than the reversal learning task. In the later stages of the disease clinical signs of visual and motor deficits became evident. The visual and motor deficits were not severe enough to affect the performance of dogs in the T-maze. Declining performance on the reversal learning task is a sensitive measure of higher order cognitive dysfunction which can serve as a useful biomarker of disease progression. PMID:21745338

  19. Plasma lipoproteins and monocyte-macrophages in a peroxisome-deficient system: study of a patient with infantile refsum disease.

    PubMed

    Mandel, H; Berant, M; Meiron, D; Aizin, A; Oiknine, J; Brook, J G; Aviram, M

    1992-01-01

    Hypocholesterolaemia in infantile Refsum disease (IRD) may link peroxisomes and lipoprotein metabolism. In our patient, plasma cholesterol levels were reduced to 26% and 29% of control in LDL and HDL fractions, respectively. Plasma apolipoproteins B-100 and A-I levels were 52% and 66% of controls, respectively. In the kindred, plasma cholesterol concentration was 61-73% of controls. The HDL-cholesterol/apo A-I ratios were: patient 0.12; kindred 0.17; controls 0.28. Analysis of the IRD patient's lipoprotein revealed compositional abnormalities in all fractions. The patient's LDL demonstrated a substantial reduction in its lipid-to-protein ratio. Alterations in plasma lipoproteins affect their interaction with macrophages. Upon incubation of the patient's LDL with J-774 macrophages, its cellular uptake, measured as cholesterol esterification rate, was only 66% of a control rate. The abnormal LDL of the IRD patient showed also only 25% of control susceptibility to in vitro oxidation. Studies of cellular cholesterol metabolism in the patient's monocyte-derived macrophages (MDM) showed 57% increased cholesterol esterification rate in comparison to normal MDM. The possible link between lipoprotein abnormalities and monocyte-macrophage cholesterol metabolism is discussed.

  20. Impaired IQ and Academic Skills in Adults Who Experienced Moderate to Severe Infantile Malnutrition: A Forty-Year Study

    PubMed Central

    Waber, Deborah P.; Bryce, Cyralene P.; Girard, Jonathan M.; Zichlin, Miriam; Fitzmaurice, Garrett M.; Galler, Janina R.

    2013-01-01

    Objectives To evaluate IQ and academic skills in adults who experienced an episode of moderate to severe infantile malnutrition and a healthy control group, all followed since childhood in the Barbados Nutrition Study. Methods IQ and academic skills were assessed in 77 previously malnourished adults (mean age=38.4 years; 53% male) and 59 controls (mean age=38.1 years; 54% male). Group comparisons were carried out by multiple regression and logistic regression, adjusted for childhood socioeconomic factors. Results The previously malnourished group showed substantial deficits on all outcomes relative to healthy controls (p<0.0001). IQ scores in the Intellectual Disability range (< 70) were 9 times more prevalent in the previously malnourished group (OR=9.18; 95% CI=3.50-24.13). Group differences in IQ of approximately one standard deviation were stable from adolescence through mid-life. Discussion Moderate to severe malnutrition during infancy is associated with a significantly elevated incidence of impaired IQ in adulthood, even when physical growth is completely rehabilitated. An episode of malnutrition during the first year of life carries risk for significant lifelong functional morbidity. PMID:23484464

  1. Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis.

    PubMed

    Shen, Jiandong; Cram, David Stephen; Wu, Wei; Cai, Lingbo; Yang, Xiaoyu; Sun, Xueping; Cui, Yugui; Liu, Jiayin

    2013-08-01

    Late infantile neuronal ceroid lipofuscinosis (NCL-2) is a severe debilitating autosomal recessive disease caused by mutations in TPP1. There are no effective treatments, resulting in early childhood death. A couple with two affected children presented for reproductive genetic counselling and chose to undertake IVF and preimplantation genetic diagnosis (PGD) to avoid the possibility of another affected child. However, DNA testing revealed only one mutation in the proband inherited from mother. Linkage analysis identified five informative linked short tandem repeat markers to aid the genetic diagnosis. Following IVF, five cleavage-stage embryos were biopsied and blastomeres were first subjected to whole-genome amplification, then a series of down-stream molecular genetic analyses to diagnose TPP1 genotype and finally array comparative genomic hybridization (CGH) to assess the chromosomal ploidy of each embryo. Two unaffected euploid embryos were identified for transfer. One was transferred on day 5 resulting in an ongoing pregnancy. Confirmatory prenatal diagnosis by amniocentesis showed concordance of the embryo and fetal diagnosis. As far as is known, this is the first successful report of PGD for NCL-2 using double-factor PGD with simultaneous single-gene testing and array CGH to identify an unaffected and chromosomally normal embryo for transfer.

  2. Communal nesting exerts epigenetic influences on affective and social behaviors in rats selectively bred for an infantile trait.

    PubMed

    Martinez, Ashley Rae; Brunelli, Susan A; Zimmerberg, Betty

    2015-02-01

    Communal nesting (CN) is a mouse model of early social enrichment during pregnancy and lactation. In this study, a rat model of CN was developed to determine if CN exerts an epigenetic effect in rats selectively bred for an infantile affective trait (high and low rates of ultrasonic distress calls). High and Low offspring from CN groups were compared to standard reared (SN) offspring on five measures of social and affective behavior at three critical ages. A differential effect of the CN paradigm on High and Low lines was seen in measures of anxiety and arousal, but not in measures of depression or social behavior. Neonatal CN subjects emitted fewer distress calls than SN subjects when separated from their dams, and the High line subjects were more affected by the CN procedure. As juveniles, CN subjects showed increased social behaviors in tests of juvenile parenting and play compared to SN subjects. In adulthood, CN differentially increased the activity of Low line subjects. All CN subjects displayed less anxiety behavior in an open field compared to SN subjects; High line subjects were more anxious than Lows. CN reduced immobility and increased attempts to escape on the Porsolt forced swim task relative to SN subjects. These results extend the usefulness of this early enrichment paradigm from mice to rats, and found some rodent species differences in outcomes dependent on the behavioral test. They also emphasize the importance of social contact during pregnancy and lactation on offspring's optimal development across behaviors and ages. PMID:25446220

  3. Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease

    PubMed Central

    Gulsuner, Suleyman; Stapleton, Gail A.; Walsh, Tom; Lee, Ming K.; Mandell, Jessica B.; Morales, Augusto; Klevit, Rachel E.; King, Mary-Claire; Rogers, R. Curtis

    2016-01-01

    Mutations in nuclear genes required for the replication and maintenance of mitochondrial DNA cause progressive multisystemic neuromuscular disorders with overlapping phenotypes. Biallelic mutations in C10orf2, encoding the Twinkle mitochondrial DNA helicase, lead to infantile-onset cerebellar ataxia (IOSCA), as well as milder and more severe phenotypes. We present a 13-year-old girl with ataxia, severe hearing loss, optic atrophy, peripheral neuropathy, and hypergonadotropic hypogonadism. Whole-exome sequencing revealed that the patient is compound heterozygous for previously unreported variants in the C10orf2 gene: a paternally inherited frameshift variant (c.333delT; p.L112Sfs*3) and a maternally inherited missense variant (c.904C>T; p.R302W). The identification of novel C10orf2 mutations extends the spectrum of mutations in the Twinkle helicase causing recessive disease, in particular the intermediate IOSCA phenotype. Structural modeling suggests that the p.R302W mutation and many other recessively inherited Twinkle mutations impact the position or interactions of the linker region, which is critical for the oligomeric ring structure and activity of the helicase. This study emphasizes the utility of whole-exome sequencing for the genetic diagnosis of a complex multisystemic disorder. PMID:27551684

  4. Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification.

    PubMed

    Meng, Yu; Sohar, Istvan; Wang, Lingling; Sleat, David E; Lobel, Peter

    2012-01-01

    Late-infantile neuronal ceroid lipofuscinosis (LINCL) is a recessive genetic disease of childhood caused by deficiencies in the lysosomal protease tripeptidyl peptidase I (TPP1). Disease is characterized by progressive and extensive neuronal death. One hurdle towards development of enzyme replacement therapy is delivery of TPP1 to the brain. In this study, we evaluated the effect of modifying N-linked glycans on recombinant human TPP1 on its pharmacokinetic properties after administration via tail vein injection to a mouse model of LINCL. Unmodified TPP1 exhibited a dose-dependent serum half-life of 12 min (0.12 mg) to 45 min (2 mg). Deglycosylation or modification using sodium metaperiodate oxidation and reduction with sodium borohydride increased the circulatory half-life but did not improve targeting to the brain compared to unmodified TPP1. Analysis of liver, brain, spleen, kidney and lung demonstrated that for all preparations, >95% of the recovered activity was in the liver. Interestingly, administration of a single 2 mg dose (80 mg/kg) of unmodified TPP1 resulted in ∼10% of wild-type activity in brain. This suggests that systemic administration of unmodified recombinant enzyme merits further exploration as a potential therapy for LINCL.

  5. Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

    PubMed

    Pierce, Sarah B; Gulsuner, Suleyman; Stapleton, Gail A; Walsh, Tom; Lee, Ming K; Mandell, Jessica B; Morales, Augusto; Klevit, Rachel E; King, Mary-Claire; Rogers, R Curtis

    2016-07-01

    Mutations in nuclear genes required for the replication and maintenance of mitochondrial DNA cause progressive multisystemic neuromuscular disorders with overlapping phenotypes. Biallelic mutations in C10orf2, encoding the Twinkle mitochondrial DNA helicase, lead to infantile-onset cerebellar ataxia (IOSCA), as well as milder and more severe phenotypes. We present a 13-year-old girl with ataxia, severe hearing loss, optic atrophy, peripheral neuropathy, and hypergonadotropic hypogonadism. Whole-exome sequencing revealed that the patient is compound heterozygous for previously unreported variants in the C10orf2 gene: a paternally inherited frameshift variant (c.333delT; p.L112Sfs*3) and a maternally inherited missense variant (c.904C>T; p.R302W). The identification of novel C10orf2 mutations extends the spectrum of mutations in the Twinkle helicase causing recessive disease, in particular the intermediate IOSCA phenotype. Structural modeling suggests that the p.R302W mutation and many other recessively inherited Twinkle mutations impact the position or interactions of the linker region, which is critical for the oligomeric ring structure and activity of the helicase. This study emphasizes the utility of whole-exome sequencing for the genetic diagnosis of a complex multisystemic disorder. PMID:27551684

  6. PRX-00023, a selective serotonin 1A receptor agonist, reduces ultrasonic vocalizations in infant rats bred for high infantile anxiety.

    PubMed

    Brunelli, Susan A; Aviles, Jessica A; Gannon, Kimberly S; Branscomb, Aron; Shacham, Sharon

    2009-11-01

    To address the development of early anxiety disorders across the lifespan, the High USV line of rats was bred based on rates of infant ultrasonic vocalization in the 40-50 kHz range of predominant frequencies (USV) to maternal separation at postnatal day (P) 10. In this study, rates of USV in High line infants (pups: Postnatal Day 11+/-1) were compared to those of randomly-bred controls in response to EPIX compound PRX-00023, a unique serotonin (5-HT) agonist, acting exclusively at the 5-HT1A receptor, or buspirone, a nonspecific 5HT1A agonist. After testing, pups were examined for sedation and other drug-related effects. The results indicated that all doses of buspirone reduced USV rates in isolation, consistent with other reports. PRX-00023 significantly reduced USV rates at the lowest doses (0.01-0.05 mg/kg). None of the PRX-00023 doses produced sedation, whereas all but the lowest dose of buspirone (0.1 mg/kg) produced sedation effects. The results suggest that this compound alleviates infantile anxiety-like behavior with great specificity in rats bred for high anxiety/depressive phenotypes by selectively targeting 5-HT1A receptors, possibly by both pre- and post-synaptic mechanisms. PMID:19576924

  7. A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus

    PubMed Central

    Choi, Jae-Hwan; Shin, Jin-Hong; Seo, Je Hyun; Jung, Jae-Ho; Choi, Kwang-Dong

    2015-01-01

    Idiopathic infantile nystagmus (IIN) is the involuntary oscillation of the eyes with onset in the first few months of life. The most common form of inheritance is X-linked, and mutations in FRMD7 gene are a major cause. To identify the FRMD7 gene mutations associated with X-linked IIN, we performed PCR-based DNA direct sequencing in 4 affected subjects from 2 Korean families. We also assessed structural abnormalities of retina and optic nerve head using optical coherence tomography (OCT). Genetic analysis revealed a A>G transversion at nucleotide c.1, the first base of the start codon. This mutation leads to the loss of the primary start codon ATG for methionine, which is replaced by a triplet GTG for valine. The alternative in-frame start codon is not present around a mutation. OCT revealed the morphological changes within the optic nerve head, including shallow cup depth and small cup-to-disc ratio. In summary, we identified a novel start codon mutation within the FRMD7 gene of 2 Korean families. Our data expands the mutation spectrum of FRMD7 causing IIN. We also demonstrated abnormal developments of afferent system in patients with FRMD7 mutations using OCT, which may help to understand the etiological factor in development of nystagmus. PMID:26268155

  8. [The role of microcurrent reflexotherapy in combination with neuroprotector in the rehabilitation of the patients with infantile cerebral palsy].

    PubMed

    Ukhanova, T A; Noivikova, E E; Dement'eva, E V

    2012-01-01

    The objective of the present study was to estimate the therapeutic efficacy of the combined treatment of infantile cerebral palsy by means of microcurrent reflexotherapy (MCRT) in combination with the neuroprotector cortexin. This treatment including 15 sessions with the use of a MAKS apparatus was given to 69 children at the age from 3 to 7 years. They were randomly allocated to two groups. The patients of group 1 underwent three courses of MCRT and two courses of cortexin therapy in conjunction with massage and remedial gymnastics, those in group 2 were treated with massage and remedial gymnastics alone. Positive dynamics in the patients' clinical conditions was documented in the end of the rehabilitative program. Specifically, 60.5% of the children in group 1 developed the ability to walk unassisted compared with 38.6% in group 2. Positive changes in the brain functional status were documented, based on the results of the electroencephalographic study, in 21 (71%) and 16 (53%) children of groups 1 and 2 respectively.

  9. Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy.

    PubMed

    van Gelder, C M; van Capelle, C I; Ebbink, B J; Moor-van Nugteren, I; van den Hout, J M P; Hakkesteegt, M M; van Doorn, P A; de Coo, I F M; Reuser, A J J; de Gier, H H W; van der Ploeg, A T

    2012-05-01

    Classic infantile Pompe disease is an inherited generalized glycogen storage disorder caused by deficiency of lysosomal acid α-glucosidase. If left untreated, patients die before one year of age. Although enzyme-replacement therapy (ERT) has significantly prolonged lifespan, it has also revealed new aspects of the disease. For up to 11 years, we investigated the frequency and consequences of facial-muscle weakness, speech disorders and dysphagia in long-term survivors. Sequential photographs were used to determine the timing and severity of facial-muscle weakness. Using standardized articulation tests and fibreoptic endoscopic evaluation of swallowing, we investigated speech and swallowing function in a subset of patients. This study included 11 patients with classic infantile Pompe disease. Median age at the start of ERT was 2.4 months (range 0.1-8.3 months), and median age at the end of the study was 4.3 years (range 7.7 months -12.2 years). All patients developed facial-muscle weakness before the age of 15 months. Speech was studied in four patients. Articulation was disordered, with hypernasal resonance and reduced speech intelligibility in all four. Swallowing function was studied in six patients, the most important findings being ineffective swallowing with residues of food (5/6), penetration or aspiration (3/6), and reduced pharyngeal and/or laryngeal sensibility (2/6). We conclude that facial-muscle weakness, speech disorders and dysphagia are common in long-term survivors receiving ERT for classic infantile Pompe disease. To improve speech and reduce the risk for aspiration, early treatment by a speech therapist and regular swallowing assessments are recommended.

  10. The Efficacy and Safety of the Probiotic Bacterium Lactobacillus reuteri DSM 17938 for Infantile Colic: A Meta-Analysis of Randomized Controlled Trials

    PubMed Central

    Wang, Ning; Sun, Fei; Wang, Lin; Liu, Xiao-Hong

    2015-01-01

    Objective To evaluate the efficacy and safety of Lactobacillus reuteri DSM 17938 for treating infantile colic. Methods A systematic literature retrieval was carried out to obtain randomized controlled trials of L. reuteri DSM 17938 for infantile colic. Trials were performed before May 2015 and retrieved from the PubMed, EMBASE, Cochrane library, CNKI, WanFang, VIP, and CBM databases. Data extraction and quality evaluation of the trials were performed independently by two investigators. A meta-analysis was performed using STATA version 12.0. Results Six randomized controlled trials of 423 infants with colic were included. Of these subjects, 213 were in the L. reuteri group, and 210 were in the placebo group. Lactobacillus reuteri increased colic treatment effectiveness at two weeks (RR = 2.84; 95% CI: 1.24–6.50; p = 0.014) and three weeks (relative risk [RR] = 2.33; 95% CI: 1.38–3.93; P = 0.002) but not at four weeks (RR = 1.41; 95% CI: 0.52–3.82; P = 0.498). Lactobacillus reuteri decreased crying time (min/d) at two weeks (weighted mean difference [WMD] = –42.89; 95% CI: –60.50 to –25.29; P = 0.000) and three weeks (WMD = –45.83; 95% CI: –59.45 to –32.21; P = 0.000). In addition, L. reuteri did not influence infants’ weight, length or head circumference and was not associated with serious adverse events. Conclusions Lactobacillus reuteri possibly increased the effectiveness of treatment for infantile colic and decreased crying time at two to three weeks without causing adverse events. However, these protective roles are usurped by gradual physiological improvements. The study is limited by the heterogeneity of the trials and should be considered with caution. Higher quality, multicenter randomized controlled trials with larger samples are needed. PMID:26509502

  11. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

    PubMed

    Chong, Jessica X; Caputo, Viviana; Phelps, Ian G; Stella, Lorenzo; Worgan, Lisa; Dempsey, Jennifer C; Nguyen, Alina; Leuzzi, Vincenzo; Webster, Richard; Pizzuti, Antonio; Marvin, Colby T; Ishak, Gisele E; Ardern-Holmes, Simone; Richmond, Zara; Bamshad, Michael J; Ortiz-Gonzalez, Xilma R; Tartaglia, Marco; Chopra, Maya; Doherty, Dan

    2016-04-01

    Infantile encephalopathies are a group of clinically and biologically heterogeneous disorders for which the genetic basis remains largely unknown. Here, we report a syndromic neonatal encephalopathy characterized by profound developmental disability, severe hypotonia, seizures, diminished respiratory drive requiring mechanical ventilation, brain atrophy, dysgenesis of the corpus callosum, cerebellar vermis hypoplasia, and facial dysmorphism. Biallelic inactivating mutations in TBCK (TBC1-domain-containing kinase) were independently identified by whole-exome sequencing as the cause of this condition in four unrelated families. Matching these families was facilitated by the sharing of phenotypic profiles and WES data in a recently released web-based tool (Geno2MP) that links phenotypic information to rare variants in families with Mendelian traits. TBCK is a putative GTPase-activating protein (GAP) for small GTPases of the Rab family and has been shown to control cell growth and proliferation, actin-cytoskeleton dynamics, and mTOR signaling. Two of the three mutations (c.376C>T [p.Arg126(∗)] and c.1363A>T [p.Lys455(∗)]) are predicted to truncate the protein, and loss of the major TBCK isoform was confirmed in primary fibroblasts from one affected individual. The third mutation, c.1532G>A (p.Arg511His), alters a conserved residue within the TBC1 domain. Structural analysis implicated Arg511 as a required residue for Rab-GAP function, and in silico homology modeling predicted impaired GAP function in the corresponding mutant. These results suggest that loss of Rab-GAP activity is the underlying mechanism of disease. In contrast to other disorders caused by dysregulated mTOR signaling associated with focal or global brain overgrowth, impaired TBCK function results in progressive loss of brain volume. PMID:27040692

  12. Molecular analysis and test of linkage between the FMR-I gene and infantile autism in multiplex families

    SciTech Connect

    Hallmayer, J.; Pintado, E.; Lotspeich, L.; Spiker, D.; Kraemer, H.C.; Lee Wong, D.; Lin, A.; Herbert, J.; Cavalli-Sforza, L.L.; Ciaranello, R.D.

    1994-11-01

    Approximately 2%-5% of autistic children show cytogenetic evidence of the fragile X syndrome. This report tests whether infantile autism in multiplex autism families arises from an unusual manifestion of the fragile X syndrome. This could arise either by expansion of the (CGG)n trinucleotide repeat in FMR-1 or from a mutation elsewhere in the gene. We studied 35 families that met stringent criteria for multiplex autism. Amplification of the trinucleotide repeat and analysis of methylation status were performed in 79 autistic children and in 31 of their unaffected siblings by Southern blot analysis. No examples of amplified repeats were seen in the autistic or control children or in their parents or grandparents. We next examined the hypothesis that there was a mutation elsewhere in the FMR-1 gene, by linkage analysis in 32 of these families. We tested four different dominant models and a recessive model. Linkage to FMR-1 could be excluded (lod score between -24 and -62) in all models by using probes DXS548, FRAXAC1, and FRAXAC2 and the CGG repeat itself. Tests for heterogeneity in this sample were negative, and the occurrence of positive lod scores in this data set could be attributed to chance. Analysis of the data by the affected-sib method also did not show evidence for linkage of any marker to autism. These results enable us to reject the hypothesis that multiplex autism arises from expansion of the (CGG)n trinucleotide repeat in FMR-1. Further, because the overall lod scores for all probes in all models tested were highly negative, linkage to FMR-1 can also be ruled out in multiplex autistic families. 35 refs., 2 figs., 5 tabs.

  13. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

    PubMed Central

    Chong, Jessica X.; Caputo, Viviana; Phelps, Ian G.; Stella, Lorenzo; Worgan, Lisa; Dempsey, Jennifer C.; Nguyen, Alina; Leuzzi, Vincenzo; Webster, Richard; Pizzuti, Antonio; Marvin, Colby T.; Ishak, Gisele E.; Ardern-Holmes, Simone; Richmond, Zara; Bamshad, Michael J.; Ortiz-Gonzalez, Xilma R.; Tartaglia, Marco; Chopra, Maya; Doherty, Dan

    2016-01-01

    Infantile encephalopathies are a group of clinically and biologically heterogeneous disorders for which the genetic basis remains largely unknown. Here, we report a syndromic neonatal encephalopathy characterized by profound developmental disability, severe hypotonia, seizures, diminished respiratory drive requiring mechanical ventilation, brain atrophy, dysgenesis of the corpus callosum, cerebellar vermis hypoplasia, and facial dysmorphism. Biallelic inactivating mutations in TBCK (TBC1-domain-containing kinase) were independently identified by whole-exome sequencing as the cause of this condition in four unrelated families. Matching these families was facilitated by the sharing of phenotypic profiles and WES data in a recently released web-based tool (Geno2MP) that links phenotypic information to rare variants in families with Mendelian traits. TBCK is a putative GTPase-activating protein (GAP) for small GTPases of the Rab family and has been shown to control cell growth and proliferation, actin-cytoskeleton dynamics, and mTOR signaling. Two of the three mutations (c.376C>T [p.Arg126∗] and c.1363A>T [p.Lys455∗]) are predicted to truncate the protein, and loss of the major TBCK isoform was confirmed in primary fibroblasts from one affected individual. The third mutation, c.1532G>A (p.Arg511His), alters a conserved residue within the TBC1 domain. Structural analysis implicated Arg511 as a required residue for Rab-GAP function, and in silico homology modeling predicted impaired GAP function in the corresponding mutant. These results suggest that loss of Rab-GAP activity is the underlying mechanism of disease. In contrast to other disorders caused by dysregulated mTOR signaling associated with focal or global brain overgrowth, impaired TBCK function results in progressive loss of brain volume. PMID:27040692

  14. Isolation, characterization, and in vitro propagation of infantile hemangioma stem cells and an in vivo mouse model

    PubMed Central

    2011-01-01

    Background Infantile hemangiomas (IH) are the most common benign tumors of infancy. The typical clinical course consists of rapid growth during the first year of life, followed by natural and gradual involution over a multi-year time span through unknown cellular mechanisms. Some tumors respond to medical treatment with corticosteroids or beta-blockers, however, when this therapy fails or is incomplete, surgical extirpation may be necessary. Noninvasive therapies to debulk or eliminate these tumors would be an important advance. The development of an in vitro cell culture system and an animal model would allow new insights into the biological processes involved in the development and pathogenesis of IH. Results We observed that proliferative stage IH specimens contain significantly more SALL4+ and CD133+ cells than involuting tumors, suggesting a possible stem cell origin. A tumor sphere formation assay was adapted to culture IH cells in vitro. Cells in IH tumor spheres express GLUT1, indicative of an IH cell of origin, elevated levels of VEGF, and various stem/progenitor cell markers such as SALL4, KDR, Oct4, Nanog and CD133. These cells were able to self-renew and differentiate to endothelial lineages, both hallmarks of tumor stem cells. Treatment with Rapamycin, a potent mTOR/VEGF inhibitor, dramatically suppressed IH cell growth in vitro. Subcutaneous injection of cells from IH tumor spheres into immunodeficient NOD-SCID mice produced GLUT1 and CD31 positive tumors with the same cellular proliferation, differentiation and involution patterns as human hemangiomas. Conclusions The ability to propagate large numbers of IH stem cells in vitro and the generation of an in vivo mouse model provides novel avenues for testing IH therapeutic agents in the future. PMID:22192404

  15. CAUSING AND CURING INFANTILE ESOTROPIA IN PRIMATES: THE ROLE OF DECORRELATED BINOCULAR INPUT (AN AMERICAN OPHTHALMOLOGICAL SOCIETY THESIS)

    PubMed Central

    Tychsen, Lawrence

    2007-01-01

    Purpose: Human infants at greatest risk for esotropia are those who suffer cerebral insults that could decorrelate signals from the 2 eyes during an early critical period of binocular, visuomotor development. The author reared normal infant monkeys, under conditions of binocular decorrelation, to determine if this alone was sufficient to cause esotropia and associated behavioral as well as neuroanatomic deficits. Methods: Binocular decorrelation was imposed using prism-goggles for durations of 3 to 24 weeks (in 6 experimental, 2 control monkeys). Behavioral recordings were obtained, followed by neuroanatomic analysis of ocular dominance columns and binocular, horizontal connections in the striate visual cortex (area V1). Results: Concomitant, constant esotropia developed in each monkey exposed to decorrelation for a duration of 12 to 24 weeks. The severity of ocular motor signs (esotropia-angle; dissociated vertical deviation; latent nystagmus; pursuit/optokinetic tracking asymmetry; fusional vergence deficits), and the loss of V1 binocular connections, increased as a function of decorrelation duration. Stereopsis was deficient and motion visual evoked potentials were asymmetric. Monkeys exposed to decorrelation for 3 weeks showed transient esotropia but regained normal visuomotor behaviors and binocular V1 connections. Conclusions: Binocular decorrelation is a sufficient cause of infantile esotropia when imposed during a critical period of visuomotor development. The systematic relationship between severity of visuomotor sign, and severity of V1 connectivity deficit, provides a neuroanatomic mechanism for several of these signs. Restoration of binocular fusion and V1 connections, after short durations of decorrelation, helps explain the benefits of early repair in human strabismus. PMID:18427630

  16. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

    PubMed

    Chong, Jessica X; Caputo, Viviana; Phelps, Ian G; Stella, Lorenzo; Worgan, Lisa; Dempsey, Jennifer C; Nguyen, Alina; Leuzzi, Vincenzo; Webster, Richard; Pizzuti, Antonio; Marvin, Colby T; Ishak, Gisele E; Ardern-Holmes, Simone; Richmond, Zara; Bamshad, Michael J; Ortiz-Gonzalez, Xilma R; Tartaglia, Marco; Chopra, Maya; Doherty, Dan

    2016-04-01

    Infantile encephalopathies are a group of clinically and biologically heterogeneous disorders for which the genetic basis remains largely unknown. Here, we report a syndromic neonatal encephalopathy characterized by profound developmental disability, severe hypotonia, seizures, diminished respiratory drive requiring mechanical ventilation, brain atrophy, dysgenesis of the corpus callosum, cerebellar vermis hypoplasia, and facial dysmorphism. Biallelic inactivating mutations in TBCK (TBC1-domain-containing kinase) were independently identified by whole-exome sequencing as the cause of this condition in four unrelated families. Matching these families was facilitated by the sharing of phenotypic profiles and WES data in a recently released web-based tool (Geno2MP) that links phenotypic information to rare variants in families with Mendelian traits. TBCK is a putative GTPase-activating protein (GAP) for small GTPases of the Rab family and has been shown to control cell growth and proliferation, actin-cytoskeleton dynamics, and mTOR signaling. Two of the three mutations (c.376C>T [p.Arg126(∗)] and c.1363A>T [p.Lys455(∗)]) are predicted to truncate the protein, and loss of the major TBCK isoform was confirmed in primary fibroblasts from one affected individual. The third mutation, c.1532G>A (p.Arg511His), alters a conserved residue within the TBC1 domain. Structural analysis implicated Arg511 as a required residue for Rab-GAP function, and in silico homology modeling predicted impaired GAP function in the corresponding mutant. These results suggest that loss of Rab-GAP activity is the underlying mechanism of disease. In contrast to other disorders caused by dysregulated mTOR signaling associated with focal or global brain overgrowth, impaired TBCK function results in progressive loss of brain volume.

  17. Early Surgical Management of Large Scalp Infantile Hemangioma Using the TopClosure® Tension-Relief System.

    PubMed

    Zhu, Zhanyong; Yang, Xilin; Zhao, Yueqiang; Fan, Huajun; Yu, Mosheng; Topaz, Moris

    2015-11-01

    Infantile hemangiomas (IHs) are the most common benign vascular neoplasms of infancy and childhood. The majority do not need medical intervention. However, large ulcerated scalp IHs may lead to fatal bleeding as well as severe cosmetic disfigurement that indicate early surgical excision, inflicting substantial surgical risks, with short- and long-term morbidity.The TopClosure Tension-Relief System (TRS) is an innovative skin stretching and wound closure-secure system that facilitates primary closure of relatively large skin defects. This system has been shown as a substitute for skin grafts, flaps, or tissue expanders.We describe a case of a giant IH of the scalp usually requiring a complex surgical approach, which was immediately primarily closed applying the TRS.A 3-day-old female infant presented with a giant scalp hemangioma at birth that rapidly grew in the neonatal period with early signs of ulceration. The patient underwent surgical resection of the giant scalp hemangioma with immediate primary closure of the defect using the TRS. Surgical procedure and postoperative period were uneventful.Early surgical resections of IHs at infancy carry substantial surgical risks and morbidity. This is the first reported case of early resection of a scalp hemangioma in the neonatal period, with successful immediate primary closure by application of stress-relaxation technique through the TRS. The application of the TopClosure TRS in this age group has significant advantages. It reduces the complexity and length of surgery, reducing blood loss, eliminating donor site morbidity, improving wound aesthetics, and minimizing the need for future reconstructive procedures.

  18. Early Surgical Management of Large Scalp Infantile Hemangioma Using the TopClosure® Tension-Relief System.

    PubMed

    Zhu, Zhanyong; Yang, Xilin; Zhao, Yueqiang; Fan, Huajun; Yu, Mosheng; Topaz, Moris

    2015-11-01

    Infantile hemangiomas (IHs) are the most common benign vascular neoplasms of infancy and childhood. The majority do not need medical intervention. However, large ulcerated scalp IHs may lead to fatal bleeding as well as severe cosmetic disfigurement that indicate early surgical excision, inflicting substantial surgical risks, with short- and long-term morbidity.The TopClosure Tension-Relief System (TRS) is an innovative skin stretching and wound closure-secure system that facilitates primary closure of relatively large skin defects. This system has been shown as a substitute for skin grafts, flaps, or tissue expanders.We describe a case of a giant IH of the scalp usually requiring a complex surgical approach, which was immediately primarily closed applying the TRS.A 3-day-old female infant presented with a giant scalp hemangioma at birth that rapidly grew in the neonatal period with early signs of ulceration. The patient underwent surgical resection of the giant scalp hemangioma with immediate primary closure of the defect using the TRS. Surgical procedure and postoperative period were uneventful.Early surgical resections of IHs at infancy carry substantial surgical risks and morbidity. This is the first reported case of early resection of a scalp hemangioma in the neonatal period, with successful immediate primary closure by application of stress-relaxation technique through the TRS. The application of the TopClosure TRS in this age group has significant advantages. It reduces the complexity and length of surgery, reducing blood loss, eliminating donor site morbidity, improving wound aesthetics, and minimizing the need for future reconstructive procedures. PMID:26632734

  19. Early Surgical Management of Large Scalp Infantile Hemangioma Using the TopClosure® Tension-Relief System

    PubMed Central

    Zhu, Zhanyong; Yang, Xilin; Zhao, Yueqiang; Fan, Huajun; Yu, Mosheng; Topaz, Moris

    2015-01-01

    Abstract Infantile hemangiomas (IHs) are the most common benign vascular neoplasms of infancy and childhood. The majority do not need medical intervention. However, large ulcerated scalp IHs may lead to fatal bleeding as well as severe cosmetic disfigurement that indicate early surgical excision, inflicting substantial surgical risks, with short- and long-term morbidity. The TopClosure Tension-Relief System (TRS) is an innovative skin stretching and wound closure-secure system that facilitates primary closure of relatively large skin defects. This system has been shown as a substitute for skin grafts, flaps, or tissue expanders. We describe a case of a giant IH of the scalp usually requiring a complex surgical approach, which was immediately primarily closed applying the TRS. A 3-day-old female infant presented with a giant scalp hemangioma at birth that rapidly grew in the neonatal period with early signs of ulceration. The patient underwent surgical resection of the giant scalp hemangioma with immediate primary closure of the defect using the TRS. Surgical procedure and postoperative period were uneventful. Early surgical resections of IHs at infancy carry substantial surgical risks and morbidity. This is the first reported case of early resection of a scalp hemangioma in the neonatal period, with successful immediate primary closure by application of stress-relaxation technique through the TRS. The application of the TopClosure TRS in this age group has significant advantages. It reduces the complexity and length of surgery, reducing blood loss, eliminating donor site morbidity, improving wound aesthetics, and minimizing the need for future reconstructive procedures. PMID:26632734

  20. Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.

    PubMed

    Wilmshurst, Jo M; Gaillard, William D; Vinayan, Kollencheri Puthenveettil; Tsuchida, Tammy N; Plouin, Perrine; Van Bogaert, Patrick; Carrizosa, Jaime; Elia, Maurizio; Craiu, Dana; Jovic, Nebojsa J; Nordli, Doug; Hirtz, Deborah; Wong, Virginia; Glauser, Tracy; Mizrahi, Eli M; Cross, J Helen

    2015-08-01

    Evidence-based guidelines, or recommendations, for the management of infants with seizures are lacking. A Task Force of the Commission of Pediatrics developed a consensus document addressing diagnostic markers, management interventions, and outcome measures for infants with seizures. Levels of evidence to support recommendations and statements were assessed using the American Academy of Neurology Guidelines and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. The report contains recommendations for different levels of care, noting which would be regarded as standard care, compared to optimal care, or "state of the art" interventions. The incidence of epilepsy in the infantile period is the highest of all age groups (strong evidence), with epileptic spasms the largest single subgroup and, in the first 2 years of life, febrile seizures are the most commonly occurring seizures. Acute intervention at the time of a febrile seizure does not alter the risk for subsequent epilepsy (class 1 evidence). The use of antipyretic agents does not alter the recurrence rate (class 1 evidence), and there is no evidence to support initiation of regular antiepileptic drugs for simple febrile seizures (class 1 evidence). Infants with abnormal movements whose routine electroencephalography (EEG) study is not diagnostic, would benefit from video-EEG analysis, or home video to capture events (expert opinion, level U recommendation). Neuroimaging is recommended at all levels of care for infants presenting with epilepsy, with magnetic resonance imaging (MRI) recommended as the standard investigation at tertiary level (level A recommendation). Genetic screening should not be undertaken at primary or secondary level care (expert opinion). Standard care should permit genetic counseling by trained personal at all levels of care (expert opinion). Genetic evaluation for Dravet syndrome, and other infantile-onset epileptic encephalopathies, should be available

  1. Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.

    PubMed

    Wilmshurst, Jo M; Gaillard, William D; Vinayan, Kollencheri Puthenveettil; Tsuchida, Tammy N; Plouin, Perrine; Van Bogaert, Patrick; Carrizosa, Jaime; Elia, Maurizio; Craiu, Dana; Jovic, Nebojsa J; Nordli, Doug; Hirtz, Deborah; Wong, Virginia; Glauser, Tracy; Mizrahi, Eli M; Cross, J Helen

    2015-08-01

    Evidence-based guidelines, or recommendations, for the management of infants with seizures are lacking. A Task Force of the Commission of Pediatrics developed a consensus document addressing diagnostic markers, management interventions, and outcome measures for infants with seizures. Levels of evidence to support recommendations and statements were assessed using the American Academy of Neurology Guidelines and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. The report contains recommendations for different levels of care, noting which would be regarded as standard care, compared to optimal care, or "state of the art" interventions. The incidence of epilepsy in the infantile period is the highest of all age groups (strong evidence), with epileptic spasms the largest single subgroup and, in the first 2 years of life, febrile seizures are the most commonly occurring seizures. Acute intervention at the time of a febrile seizure does not alter the risk for subsequent epilepsy (class 1 evidence). The use of antipyretic agents does not alter the recurrence rate (class 1 evidence), and there is no evidence to support initiation of regular antiepileptic drugs for simple febrile seizures (class 1 evidence). Infants with abnormal movements whose routine electroencephalography (EEG) study is not diagnostic, would benefit from video-EEG analysis, or home video to capture events (expert opinion, level U recommendation). Neuroimaging is recommended at all levels of care for infants presenting with epilepsy, with magnetic resonance imaging (MRI) recommended as the standard investigation at tertiary level (level A recommendation). Genetic screening should not be undertaken at primary or secondary level care (expert opinion). Standard care should permit genetic counseling by trained personal at all levels of care (expert opinion). Genetic evaluation for Dravet syndrome, and other infantile-onset epileptic encephalopathies, should be available

  2. Basil O'Connor, the National Foundation for Infantile Paralysis and the Reorganization of Polio Research in the United States, 1935-41.

    PubMed

    Wilson, Daniel J

    2015-07-01

    The costs associated with polio research in the late 1920s were high, while sources for research funding remained scarce. This began to change in the early 1930s with the creation of three private philanthropies that would form the basis of a system to fund polio research adequately: the International Committee for the Study of Infantile Paralysis (1928), The President's Birthday Ball Commission (1934), and the National Foundation for Infantile Paralysis (1938). This article explores how these three organizations shaped the process for directing funds to polio research. Beginning with the International Committee, all three philanthropies used medical advisory committees as vehicles for the review of proposals for research. The National Foundation adopted many of the policies and procedures of the earlier organizations, drawing on the experiences, misfortunes, and successes of its predecessors. The National Foundation also relied on some of the same personnel, although the microbiologist and writer Paul de Kruif, who was an influential figure in the early years, was gradually pushed out. This essay explores the establishment of the medical advisory committees of the National Foundation and reveals how by 1941 under leadership of Basil O'Connor and Dr. Thomas Rivers they developed a systematic and readily legitimated process for directing funding. By 1941, the NFIP had in place the fund-raising capacity to underwrite the scientific research that would ultimately produce two successful polio vaccines in the next twenty years.

  3. Prenatal and postnatal studies of a late infantile GM2 gangliosidosis in a family of Syrian origin: a possible B1 variant.

    PubMed

    Shukry, A; Goldman, B; Shihab, S; Peleg, L

    1993-10-01

    We describe late infantile Tay-Sachs disease with high residual hexosaminidase A activity in two siblings of a Syrian Druze family. The patients' leukocytes had 26% of normal hexosaminidase A activity when tested with the conventional fluorogenic substrate 4-methyl-umbelliferyl-2-acetamido-2-deoxy-beta-D-glucopyranoside (4-MUG) and only about 10% when assayed with the sulfated substrate, 4-methyl-umbelliferal- beta-N-acetyl-glucosamine-6-sulfate (4-MUGS). According to the standard procedure of the heterozygote screening program (employing 4-MUG and heat inactivation), the parents were not diagnosed as an at-risk couple since the father was classified as a noncarrier. However, both parents' levels were clearly within the carrier range on the basis of 4-MUGS. The unique catalytic characteristics of the patients' enzyme forward the assumption that the affected sibs are B1 variants. The parents' enzymatic levels, together with their known consanguinity, might indicate that these patients are homozygotes for the rare mutation and not genetic compounds as has been documented for most of the infantile B1 variants. To the best of our knowledge this is the first reported case of B1 variant in a child of that extraction. PMID:8244659

  4. Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase.

    PubMed Central

    Lu, J Y; Verkruyse, L A; Hofmann, S L

    1996-01-01

    Palmitoyl-protein thioesterase is a lysosomal long-chain fatty acyl hydrolase that removes fatty acyl groups from modified cysteine residues in proteins. Mutations in palmitoyl-protein thioesterase were recently found to cause the neurodegenerative disorder infantile neuronal ceroid lipofuscinosis, a disease characterized by accumulation of amorphous granular deposits in cortical neurons, leading to blindness, seizures, and brain death by the age of three. In the current study, we demonstrate that [35S]cysteine-labeled lipid thioesters accumulate in immortalized lymphoblasts of patients with infantile neuronal ceroid lipofuscinosis. The accumulation in cultured cells is reversed by the addition of recombinant palmitoyl-protein thioesterase that is competent for lysosomal uptake through the mannose-6-phosphate receptor. The [35S]cysteine-labeled lipids are substrates for palmitoyl-protein thioesterase in vitro, and their formation requires prior protein synthesis. These data support a role for palmitoyl-protein thioesterase in the lysosomal degradation of S-acylated proteins and define a major new pathway for the catabolism of acylated proteins in the lysosome. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 PMID:8816748

  5. Remembering the Chaos - But Life Went on and the Wound Healed. A Four Year Follow Up with Parents having had a Baby with Infantile Colic

    PubMed Central

    Landgren, Kajsa; Lundqvist, Anita; Hallström, Inger

    2012-01-01

    Objective: To elucidate parent´s experience of having had a baby with colic four years previously and of how the colic and care influenced the family in a long-term perspective. Methodology and Participants: A qualitative inductive follow-up study with 13 individual and one focus group interview including four parents. Altogether ten mothers and seven fathers representing 12 families, who had been interviewed when they were in the midst of the colicky period four years ago, were in the present study interviewed between December 2010 and May 2011. Parents’ narratives were analysed using content analysis. Results: Parent´s memories of the exhausting colic period were vivid, but when the colic had healed the family relationships also healed. Although it had taken longer time for some parents to attach to their child they now experienced a close relationship with their four year old child and felt confident in their role as parent. The colic scream was still unbearable and evoked negative feelings in the parents. Parents had decreased confidence in Child Health services and made suggestions for improvements in the health care approach. Most of all they wished for an effective treatment of infantile colic. Conclusion: The family relationships were healed and the colic left only few residual symptoms but parents still had decreased confidence in the Child Health Center. Consequently, there is a need to raise awareness to parents’ situation when having a child with infantile colic. PMID:22655001

  6. Extensión del Formalismo de Orbitales de Defecto Cuántico al tratamiento del efecto Stark (SQDO).

    NASA Astrophysics Data System (ADS)

    Menéndez, J. M.; Martín, I.; Velasco, A. M.

    El estudio experimental de las interacciones de átomos Rydberg altamente excitados con campos eléctricos ha experimentado un creciente interés durante las dos últimas décadas debido, en gran medida, al desarrollo de nuevas técnicas para crear y estudiar átomos Rydberg en el laboratorio. Acompañando a estas nuevas técnicas experimentales, es necesario el desarrollo de modelos teóricos que nos permitan contrastar sus medidas y conocer mejor los fundamentos de los mismos. Desde el punto de vista teórico el conocimiento del desdoblamiento de los niveles energéticos de un átomo en función de la magnitud del campo eléctrico aplicado (lo que se conoce como mapa Stark) es el mejor punto de partida para la descripción del sistema y un prerrequisito fundamental para el cálculo de distintas propiedades atómicas en presencia del campo eléctrico tales como intensidades de transición, umbrales de ionización de campo eléctrico, tiempos de vida, posición y anchura de cruces evitados, etc. En este trabajo presentamos la adaptación del método de orbitales de defecto cuántico [1,2,3] al tratamiento del efecto Stark (SQDO) [4] y su aplicación al cálculo de los desdoblamientos energéticos y fuerzas de oscilador de estados Rydberg en los átomos de Li, Na y K. El propósito de este estudio es, por un lado, desarrollar métodos fiables para la determinación de propiedades atómicas en presencia de campos eléctricos y, por otro, mostrar la fiabilidad de las funciones de onda QDO en la descripción del efecto Stark en sistemas atómicos.

  7. Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis.

    PubMed

    Lu, Jui-Yun; Nelvagal, Hemanth R; Wang, Lingling; Birnbaum, Shari G; Cooper, Jonathan D; Hofmann, Sandra L

    2015-01-01

    The neuronal ceroid lipofuscinoses (NCLs) are a group of related hereditary lysosomal storage disorders characterized by progressive loss of neurons in the central nervous system resulting in dementia, loss of motor skills, seizures and blindness. A characteristic intralysosomal accumulation of autofluorescent storage material occurs in the brain and other tissues. Three major forms and nearly a dozen minor forms of NCL are recognized. Infantile-onset NCL (CLN1 disease) is caused by severe deficiency in a soluble lysosomal enzyme, palmitoyl-protein thioesterase-1 (PPT1) and no therapy beyond supportive care is available. Homozygous Ppt1 knockout mice reproduce the known features of the disease, developing signs of motor dysfunction at 5 months of age and death around 8 months. Direct delivery of lysosomal enzymes to the cerebrospinal fluid is an approach that has gained traction in small and large animal models of several other neuropathic lysosomal storage diseases, and has advanced to clinical trials. In the current study, Ppt1 knockout mice were treated with purified recombinant human PPT1 enzyme delivered to the lumbar intrathecal space on each of three consecutive days at 6 weeks of age. Untreated PPT1 knockout mice and wild-type mice served as additional controls. Four enzyme concentration levels (0, 2.6, 5.3 and 10.6 mg/ml of specific activity 20 U/mg) were administered in a volume of 80 μl infused over 8 min. Each group consisted of 16-20 mice. The treatment was well tolerated. Disease-specific survival was 233, 267, 272, and 284days for each of the four treatment groups, respectively, and the effect of treatment was highly significant (p<0.0001). The timing of motor deterioration was also delayed. Neuropathology was improved as evidenced by decreased autofluorescent storage material in the spinal cord and a decrease in CD68 staining in the cortex and spinal cord. The improvements in motor function and survival are similar to results reported for

  8. Distant metastatic spread of molecularly proven infantile fibrosarcoma of the chest in a 2-month-old girl: case report and review of literature.

    PubMed

    van Grotel, Martine; Blanco, Esther; Sebire, Neil J; Slater, Olga; Chowdhury, Tanzina; Anderson, John

    2014-04-01

    Infantile fibrosarcoma (IFS) is a malignant neoplasm, arising in children younger than 2 years of age and with a hallmark chromosomal translocation t(12;15)(p13;q26) encoding an ETV6-NTRK3 fusion oncoprotein. A review of the world literature found no reported cases of molecularly proven IFS with distant metastatic spread at presentation. We report the case of a 2-month-old infant girl presenting with a chest wall primary IFS bearing and expressing the ETV6-NTRK3 fusion, who had several pulmonary metastatic deposits at diagnosis. She achieved complete remission with chemotherapy and surgery. To our knowledge, this is the first reported case of molecularly proven IFS with distant metastatic spread.

  9. A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia.

    PubMed

    Lim, Byung Chan; Min, Byung-Joo; Park, Woong-Yang; Oh, Sun Kyung; Woo, Mi Jung; Choi, Jin Sun; Kim, Ki Joong; Hwang, Yong Seung; Chae, Jong Hee

    2014-02-01

    The voltage-gated sodium channel genes and HOXD genes are clustered on chromosome 2q, and duplication of this region is associated with 2 clinical phenotypes: early-onset epilepsy and mesomelic dysplasia Kantaputra type, respectively. We report a case involving 2q24.3-2q32.1 duplication encompassing both the voltage-gated sodium channel and HOXD gene clusters, which were detected by a comparative genomic hybridization array. The associated clinical features were early-infantile-onset epilepsy, hypoplastic left heart syndrome, and global developmental delay. However, no features of mesomelic dysplasia were found. A fluorescent in situ hybridization study showed that the noncontiguous insertion of the duplicated chromosome 2q segment into chromosome 6q was inherited from the father, who has a balanced insertional translocation. The unique genotype-phenotype correlation in the present case suggests that dosage-sensitive effects might apply only to the voltage-gated sodium channel genes.

  10. Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: Incorporation of linkage disequilibrium in multipoint analysis

    SciTech Connect

    Hellsten, E.; Vesa, J.; Peltonen, L.; Jaervela, I. ); Speer, M.C.; Ott, J. New York State Psychiatric Institute, New York ); Maekelae, T.P.; Alitalo, K. )

    1993-06-01

    Infantile neuronal ceroid lipofuscinosis, INCL, CLN1, is an autosomally inherited progressive neuro-generative disorder. The disease results in the massive death of cortical neurons, suggesting an essential role for the CLN1 gene product in the normal neuronal maturation during the first years of life. Identification of new multiallelic markers has now made possible the construction of a refined genetic map encompassing the CLN1 locus at 1p32. Strong allelic association was detected with a new, highly polymorphic HY-TM1 marker. The authors incorporated this observed linkage disequilibrium into multipoint linkage analysis, which significantly increased the informativeness of the limited family material and facilitated refined assignment of the CLN1 locus. 23 refs., 2 figs., 4 tabs.

  11. Kinetics of 3H-serotonin uptake by platelets in infantile autism and developmental language disorder (including five pairs of twins)

    SciTech Connect

    Katsui, T.; Okuda, M.; Usuda, S.; Koizumi, T.

    1986-03-01

    The kinetics of 5-HT uptake by platelets was studied in cases of infantile autism and developmental language disorder (DLD) and normal subjects. Two patients of the autism group were twins, and the seven patients of the DLD group were members of four pairs of twins. The Vmax values (means +/- SD) for autism and DLD were 6.46 +/- .90 pmol 5-HT/10(7) cells/min and 4.85 +/- 1.50 pmol 5-HT/10(7) cells/min, respectively. These values were both significantly higher than that of 2.25 +/- .97 pmole 5-HT/10(7) cells/min for normal children. The Km values of the three groups were not significantly different. Data on the five pairs of twins examined suggested that the elevated Vmax of 5-HT uptake by platelets was determined genetically.

  12. Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: no evidence for a major gene in this candidate region.

    PubMed Central

    Chung, E; Coffey, R; Parker, K; Tam, P; Pembrey, M E; Gardiner, R M

    1993-01-01

    A genetic component in the aetiology of infantile pyloric stenosis (PS) is well established. Segregation analysis is compatible with a multifactorial sex modified threshold model of inheritance but a major gene of low penetrance has not been excluded. PS has been reported to occur in 57% (four of seven) of cases with duplication of chromosome 9q11-q33. Twenty families with PS were studied using genetic markers at loci D9S55, D9S111, D9S15, D9S12, D9S56, D9S59, and ASS from this region of chromosome 9. Pairwise lod scores of -2 were obtained with all these markers at recombination fractions greater or equal to 0.04 under both autosomal dominant and autosomal recessive models of inheritance. This provides evidence against the existence of a major locus predisposing to PS within chromosome 9q11-q33. PMID:8320701

  13. [Prevention rather than cure: the emergence and first stage of the Centros de Higiene Infantil in Mexico City, 1922-1932].

    PubMed

    Alanís, Mercedes

    2015-01-01

    This article deals with the main features of the emergence and first ten years of the Centros de Higiene Infantil, facilities run by the Departamento de Salubridad Pública from 1922 on in Mexico City with the goal of providing care for mothers from pregnancy onwards and children from birth to two years of age. It reviews the actions that gave rise to this project and how it became established. It analyzes the structure of these centers, the characteristics of the mothers and children seen there and the functions performed by doctors and nurses, stressing the notion of preventing childhood illnesses, and ends with a first assessment of the effects and limitations of these centers.

  14. Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia.

    PubMed

    Komaru, Keiichi; Satou, Yasuhito; Al-Shawafi, Hiba A; Numa-Kinjoh, Natsuko; Sohda, Miwa; Oda, Kimimitsu

    2016-03-01

    Tissue-nonspecific alkaline phosphatase (TNSALP) is a membrane glycoprotein with a proposed role in bone mineralization. Indeed, mutations in TNSALP have been identified in patients with hypophosphatasia (HPP), a genetic disease characterized by hypomineralization of bone and teeth and a deficiency in serum ALP activity. TNSALP has five potential N-glycosylation sites at N140, N230, N271, N303 and N430 by standard nomenclature. A mutation at one of these sites, N430, was recently detected in a patient with infantile HPP. Using site-directed mutagenesis, we demonstrated that TNSALP has five N-glycans in transfected COS-1 cells and that individual single N-glycan deletion mutants of TNSALP retain the dimeric structure required for ALP activity, excluding the possibility that any single N-glycan plays a vital role in the structure and function of TNSALP. However, we found that TNSALP (N430Q) and TNSALP (N430E) mutants, but not a TNSALP (N430D) mutant, failed to form dimers. The TNSALP (N430S) mutant linked to infantile HPP was glycosylation-defective and unable to dimerise, similar to TNSALP (N430Q) and TNSALP (N430E) mutants; therefore, TNSALP (N430S) was established as a severe allele without strong ALP activity. By contrast to individual single N-glycan deletion mutants, TNSALP devoid of all five N-glycans was present to a much lesser extent than wild-type TNSALP in transfected cells, possibly reflecting its instability. A comprehensive analysis of a series of multiple N-glycan depletion mutants in TNSALP revealed that three N-glycans on N230, N271 and N303 were the minimal requirement for the structure and function of TNSALP and a prerequisite for its stable expression in a cell.

  15. Nuevas estrategias de gestión, tratamiento y valorización de los efluentes organicos pecuarios: Experiencias en USDA. (Management strategies for organic livestock effluents,innovative treatment and valorization)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    En la actualidad el impacto potencial de los residuos ganaderos en el medio-ambiente representa uno de los desafíos más grandes de la agricultura. Las tecnologías de tratamiento pueden tener un importante papel en el manejo de los residuos ganaderos dando más flexibilidad en los programas de la apli...

  16. Imaging and serum biomarkers reflecting the functional efficacy of extended erythropoietin treatment in rats following infantile traumatic brain injury.

    PubMed

    Robinson, Shenandoah; Winer, Jesse L; Berkner, Justin; Chan, Lindsay A S; Denson, Jesse L; Maxwell, Jessie R; Yang, Yirong; Sillerud, Laurel O; Tasker, Robert C; Meehan, William P; Mannix, Rebekah; Jantzie, Lauren L

    2016-06-01

    OBJECTIVE Traumatic brain injury (TBI) is a leading cause of death and severe morbidity for otherwise healthy full-term infants around the world. Currently, the primary treatment for infant TBI is supportive, as no targeted therapies exist to actively promote recovery. The developing infant brain, in particular, has a unique response to injury and the potential for repair, both of which vary with maturation. Targeted interventions and objective measures of therapeutic efficacy are needed in this special population. The authors hypothesized that MRI and serum biomarkers can be used to quantify outcomes following infantile TBI in a preclinical rat model and that the potential efficacy of the neuro-reparative agent erythropoietin (EPO) in promoting recovery can be tested using these biomarkers as surrogates for functional outcomes. METHODS With institutional approval, a controlled cortical impact (CCI) was delivered to postnatal Day (P)12 rats of both sexes (76 rats). On postinjury Day (PID)1, the 49 CCI rats designated for chronic studies were randomized to EPO (3000 U/kg/dose, CCI-EPO, 24 rats) or vehicle (CCI-veh, 25 rats) administered intraperitoneally on PID1-4, 6, and 8. Acute injury (PID3) was evaluated with an immunoassay of injured cortex and serum, and chronic injury (PID13-28) was evaluated with digitized gait analyses, MRI, and serum immunoassay. The CCI-veh and CCI-EPO rats were compared with shams (49 rats) primarily using 2-way ANOVA with Bonferroni post hoc correction. RESULTS Following CCI, there was 4.8% mortality and 55% of injured rats exhibited convulsions. Of the injured rats designated for chronic analyses, 8.1% developed leptomeningeal cyst-like lesions verified with MRI and were excluded from further study. On PID3, Western blot showed that EPO receptor expression was increased in the injured cortex (p = 0.008). These Western blots also showed elevated ipsilateral cortex calpain degradation products for αII-spectrin (αII-SDPs; p < 0

  17. Imaging and serum biomarkers reflecting the functional efficacy of extended erythropoietin treatment in rats following infantile traumatic brain injury.

    PubMed

    Robinson, Shenandoah; Winer, Jesse L; Berkner, Justin; Chan, Lindsay A S; Denson, Jesse L; Maxwell, Jessie R; Yang, Yirong; Sillerud, Laurel O; Tasker, Robert C; Meehan, William P; Mannix, Rebekah; Jantzie, Lauren L

    2016-06-01

    OBJECTIVE Traumatic brain injury (TBI) is a leading cause of death and severe morbidity for otherwise healthy full-term infants around the world. Currently, the primary treatment for infant TBI is supportive, as no targeted therapies exist to actively promote recovery. The developing infant brain, in particular, has a unique response to injury and the potential for repair, both of which vary with maturation. Targeted interventions and objective measures of therapeutic efficacy are needed in this special population. The authors hypothesized that MRI and serum biomarkers can be used to quantify outcomes following infantile TBI in a preclinical rat model and that the potential efficacy of the neuro-reparative agent erythropoietin (EPO) in promoting recovery can be tested using these biomarkers as surrogates for functional outcomes. METHODS With institutional approval, a controlled cortical impact (CCI) was delivered to postnatal Day (P)12 rats of both sexes (76 rats). On postinjury Day (PID)1, the 49 CCI rats designated for chronic studies were randomized to EPO (3000 U/kg/dose, CCI-EPO, 24 rats) or vehicle (CCI-veh, 25 rats) administered intraperitoneally on PID1-4, 6, and 8. Acute injury (PID3) was evaluated with an immunoassay of injured cortex and serum, and chronic injury (PID13-28) was evaluated with digitized gait analyses, MRI, and serum immunoassay. The CCI-veh and CCI-EPO rats were compared with shams (49 rats) primarily using 2-way ANOVA with Bonferroni post hoc correction. RESULTS Following CCI, there was 4.8% mortality and 55% of injured rats exhibited convulsions. Of the injured rats designated for chronic analyses, 8.1% developed leptomeningeal cyst-like lesions verified with MRI and were excluded from further study. On PID3, Western blot showed that EPO receptor expression was increased in the injured cortex (p = 0.008). These Western blots also showed elevated ipsilateral cortex calpain degradation products for αII-spectrin (αII-SDPs; p < 0

  18. Participacion infantil (Child Participation).

    ERIC Educational Resources Information Center

    Moreno Garcia, Teresa, Ed.

    2000-01-01

    This Spanish- and Portuguese-language bulletin presents articles focusing on early childhood and elementary-age initiatives in which the children play a more active role than the usual model of teachers/adult project leaders taking the lead and the children following their directions. Each article covers a distinct project, thus examining the…

  19. Infantile autism: adult outcome.

    PubMed

    Korkmaz, B

    2000-07-01

    Although the core features of autism do not change qualitatively, a gradual overall symptomatic improvement including an increase in adaptive skills is observed in most cases with age. Follow-up studies show that the diagnostic features, the differential diagnosis, and clinical problems of adult autistics differ substantially from that of autistic children. The differential diagnosis of older autistics include personality disorders, learning disabilities, and mood disorder. Depression, epilepsy, and behavioral problems such as aggression and agitation may be major clinical problems during adolescence. The early indicators of a better outcome include a higher level of IQ and language. Among the neuropsychological variables, measures of flexibility and cognitive shift are important as prognostic factors. Early behavioral and educational intervention may especially increase the adaptive skills of the patients and promote the in-family communication. The outcome studies of autism are particularly helpful in addressing the appropriate and most effective programs of remediation for adult autistics.

  20. Infantile Refsum Disease

    MedlinePlus

    ... acid (a type of fat found in certain foods), and synthesize certain fatty materials (lipids) that are required for cell function. When peroxisomes are not functioning, there is over-accumulation of very long chain fatty acids and phytanic acid, and a lack ...

  1. Infantile Idiopathic Scoliosis

    MedlinePlus

    ... 中文 فارسی français deutsche Ελληνικά Italiano 日本語 한국어 português español Türkçe Member Login Become a Member Find ... Patients and Families Professionals About SRS Türkçe español português 한국어 日本語 Ελληνικά deutsche Italiano français فارسی 中文 ...

  2. [Frequency of allergy to cow's milk proteins and its association to other allergic diseases in patients of Hospital Infantil de Mexico Federico Gomez].

    PubMed

    Robles-Vargas, María Teresa; Sienra-Monge, Juan José; Del Río-Navarro, Blanca Estela; Reyes-López, Alfonso; Del Río-Chivardi, Jaime

    2014-01-01

    Antecedentes: la alergia a las proteínas de la leche de vaca es la alergia alimentaria más común entre los niños menores de dos años y se asocia con otras enfermedades atópicas. Objetivo: evaluar la frecuencia de alergia a las proteínas de la leche de vaca en pacientes sensibilizados a las mismas, que acuden a la consulta de Inmunología y Alergia del Hospital Infantil de México Federico Gómez, así como su asociación con otras enfermedades atópicas. Material y método: estudio retrolectivo, analítico y descriptivo en el que se revisaron los expedientes clínicos de pacientes de 0 a 19 años de edad, atendidos en la consulta de Inmunología y Alergia del Hospital Infantil de México Federico Gómez, de enero de 2010 a enero de 2013, sensibilizados a las proteínas de leche de vaca por estudios in vitro o in vivo, mediada o no mediada por IgE, para determinar su asociación con otras enfermedades atópicas durante el curso de su evolución clínica. Resultados: se incluyeron 252 pacientes con síntomas sugerentes de alergia a las proteínas de la leche de vaca, de los que sólo en 15.1% se diagnosticó por reto oral. Con respecto a los síntomas respiratorios, alrededor de 66% de los pacientes manifestó rinorrea, obstrucción y prurito nasales. En cuanto a los síntomas gastrointestinales, cerca de 30% tuvo diarrea y dolor y distensión abdominales, lo que fue estadísticamente significativo. El síntoma dermatológico más frecuente y estadísticamente significativo fue la xerosis. Las enfermedades atópicas asociadas con más frecuencia fueron: alergia alimentaria (76.3%), rinitis alérgica (65.8%), asma (47.4%) y dermatitis atópica (23%). Conclusiones: la alergia a las proteínas de la leche de vaca puede asociarse con otras enfermedades atópicas, como alergia a otros alimentos, rinitis alérgica, asma y dermatitis atópica.

  3. Two families with quadrupedalism, mental retardation, no speech, and infantile hypotonia (Uner Tan Syndrome Type-II); a novel theory for the evolutionary emergence of human bipedalism

    PubMed Central

    Tan, Uner

    2014-01-01

    Two consanguineous families with Uner Tan Syndrome (UTS) were analyzed in relation to self-organizing processes in complex systems, and the evolutionary emergence of human bipedalism. The cases had the key symptoms of previously reported cases of UTS, such as quadrupedalism, mental retardation, and dysarthric or no speech, but the new cases also exhibited infantile hypotonia and are designated UTS Type-II. There were 10 siblings in Branch I and 12 siblings in Branch II. Of these, there were seven cases exhibiting habitual quadrupedal locomotion (QL): four deceased and three living. The infantile hypotonia in the surviving cases gradually disappeared over a period of years, so that they could sit by about 10 years, crawl on hands and knees by about 12 years. They began walking on all fours around 14 years, habitually using QL. Neurological examinations showed normal tonus in their arms and legs, no Babinski sign, brisk tendon reflexes especially in the legs, and mild tremor. The patients could not walk in a straight line, but (except in one case) could stand up and maintain upright posture with truncal ataxia. Cerebello-vermial hypoplasia and mild gyral simplification were noted in their MRIs. The results of the genetic analysis were inconclusive: no genetic code could be identified as the triggering factor for the syndrome in these families. Instead, the extremely low socio-economic status of the patients was thought to play a role in the emergence of UTS, possibly by epigenetically changing the brain structure and function, with a consequent selection of ancestral neural networks for QL during locomotor development. It was suggested that UTS may be regarded as one of the unpredictable outcomes of self-organization within a complex system. It was also noted that the prominent feature of this syndrome, the diagonal-sequence habitual QL, generated an interference between ipsilateral hands and feet, as in non-human primates. It was suggested that this may have been

  4. Two families with quadrupedalism, mental retardation, no speech, and infantile hypotonia (Uner Tan Syndrome Type-II); a novel theory for the evolutionary emergence of human bipedalism.

    PubMed

    Tan, Uner

    2014-01-01

    Two consanguineous families with Uner Tan Syndrome (UTS) were analyzed in relation to self-organizing processes in complex systems, and the evolutionary emergence of human bipedalism. The cases had the key symptoms of previously reported cases of UTS, such as quadrupedalism, mental retardation, and dysarthric or no speech, but the new cases also exhibited infantile hypotonia and are designated UTS Type-II. There were 10 siblings in Branch I and 12 siblings in Branch II. Of these, there were seven cases exhibiting habitual quadrupedal locomotion (QL): four deceased and three living. The infantile hypotonia in the surviving cases gradually disappeared over a period of years, so that they could sit by about 10 years, crawl on hands and knees by about 12 years. They began walking on all fours around 14 years, habitually using QL. Neurological examinations showed normal tonus in their arms and legs, no Babinski sign, brisk tendon reflexes especially in the legs, and mild tremor. The patients could not walk in a straight line, but (except in one case) could stand up and maintain upright posture with truncal ataxia. Cerebello-vermial hypoplasia and mild gyral simplification were noted in their MRIs. The results of the genetic analysis were inconclusive: no genetic code could be identified as the triggering factor for the syndrome in these families. Instead, the extremely low socio-economic status of the patients was thought to play a role in the emergence of UTS, possibly by epigenetically changing the brain structure and function, with a consequent selection of ancestral neural networks for QL during locomotor development. It was suggested that UTS may be regarded as one of the unpredictable outcomes of self-organization within a complex system. It was also noted that the prominent feature of this syndrome, the diagonal-sequence habitual QL, generated an interference between ipsilateral hands and feet, as in non-human primates. It was suggested that this may have been

  5. Palmitoyl-protein thioesterase gene expression in the developing mouse brain and retina: implications for early loss of vision in infantile neuronal ceroid lipofuscinosis.

    PubMed

    Zhang, Z; Mandal, A K; Wang, N; Keck, C L; Zimonjic, D B; Popescu, N C; Mukherjee, A B

    1999-04-29

    Mutations in the palmitoyl-protein thioesterase (PPT) gene cause infantile neuronal ceroid lipofuscinosis (INCL), the clinical manifestations of which include the early loss of vision followed by deterioration of brain functions. To gain insight into the temporal onset of these clinical manifestations, we isolated and characterized a murine PPT (mPPT)-cDNA, mapped the gene on distal chromosome 4, and studied its expression in the eye and in the brain during development. Our results show that both cDNA and protein sequences of the murine and human PPTs are virtually identical and that the mPPT expression in the retina and in the brain is temporally regulated during development. Furthermore, the retinal expression of mPPT occurs much earlier and at a higher level than in the brain at all developmental stages investigated. Since many retinal and brain proteins are highly palmitoylated and depalmitoylation by PPT is essential for their effective recycling in the lysosomes, our results raise the possibility that inactivating mutations of the PPT gene, as occur in INCL, are likely to cause cellular accumulation of lipid-modified proteins in the retina earlier than in the brain. Consequently, the loss of vision occurs before the deterioration of brain functions in this disease. PMID:10231585

  6. Serum levels of renin, angiotensin-converting enzyme and angiotensin II in patients treated by surgical excision, propranolol and captopril for problematic proliferating infantile haemangioma.

    PubMed

    Sulzberger, L; Baillie, R; Itinteang, T; de Jong, S; Marsh, R; Leadbitter, P; Tan, S T

    2016-03-01

    The role of the renin-angiotensin system (RAS) in the biology of infantile haemangioma (IH) and its accelerated involution induced by β-blockers was first proposed in 2010. This led to the first clinical trial in 2012 using low-dose captopril, an angiotensin-converting enzyme (ACE) inhibitor, demonstrating a similar response in these tumours. This study aimed to compare serial serum levels of the components of the RAS in patients before and after surgical excision, propranolol or captopril treatment for problematic proliferating IH. Patients with problematic proliferating IH underwent measurements of serum levels of plasma renin activity (PRA), ACE and angiotensin II (ATII) before, and 1-2 and 6 months following surgical excision, propranolol or captopril treatment. This study included 27 patients undergoing surgical excision (n = 8), propranolol (n = 11) and captopril (n = 8) treatment. Treatment with either surgical excision or propranolol resulted in significant decrease in the mean levels of PRA. Surgical excision or captopril treatment led to significant decline in the mean levels of ATII. All three treatment modalities had no significant effect on the mean levels of ACE. This study demonstrates the effect of surgical excision, propranolol and captopril treatment in lowering the levels of PRA and ATII, but not ACE, supporting a mechanistic role for the RAS in the biology of IH.

  7. Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.

    PubMed

    Geisbrecht, B V; Collins, C S; Reuber, B E; Gould, S J

    1998-07-21

    Peroxisomal matrix protein import requires the action of two AAA ATPases, PEX1 and PEX6. Mutations in either the PEX1 or PEX6 gene are the most common cause of the lethal neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease and account for disease in 80% of all such patients. We report here that overexpression of PEX6 can suppress the phenotypes of certain PEX1-deficient cells, that overexpression of PEX1 can suppress the phenotypes of certain PEX6-deficient cells, and that these instances of suppression are allele-specific and require partial activity of the mutated gene. In addition to genetic evidence for interaction between PEX1 and PEX6, we find that the PEX1 and PEX6 proteins interact in the yeast two-hybrid assay and physically associate with one another in vitro. We previously identified a missense mutation in PEX1, G843D, which attenuates PEX1 function and is the most common cause of these diseases, present in one-third of all such patients. The G843D mutation attenuates the interaction between PEX1 and PEX6 in both the two-hybrid system and in vitro and appears to be suppressed by overexpression of PEX6. We conclude that PEX1 and PEX6 form a complex of central importance to peroxisome biogenesis and that mutations affecting this complex constitute the most common cause of the Zellweger syndrome spectrum of diseases.

  8. Resistance to erucic acid as a selectable marker for peroxisomal activity: isolation of revertants of an infantile Refsum disease cell line.

    PubMed

    Bachir Bioukar, E; Straehli, F; Ng, K H; Rolland, M O; Hashimoto, T; Carreau, J P; Deschatrette, J

    1994-01-01

    A system based on the ability of cells to oxidize very long-chain fatty acids (VLCFA) was developed to select in vitro normal human fibroblasts from fibroblasts of patients suffering from peroxisomal disorders with multienzymatic deficiencies: Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease (IRD). Cells treated with various concentrations of erucic acid (C22:1 n-9) revealed an enhanced toxicity of this fatty acid for the fibroblasts of patients compared with normal cells. This differential toxicity is correlated with variable accumulations of C22:1 n-9 and the absence of beta-oxidation products in the mutants. Revertants from clonal IRD cell lines were isolated in the selective medium at frequencies ranging from 3 x 10(-7) to 4 x 10(-6) depending on the line. After six weeks of growth in the absence of selective pressure, the variants exhibited a resistance level to C22:1 n-9 identical to that of normal cells. Furthermore, beta-oxidation of VLCFA is re-established in these selected cells as well as dihydroxyacetone phosphate acyltransferase activity. Immunoblot experiments also demonstrated a restored pattern of acyl-CoA oxidase molecular forms. Last, immunofluorescence studies revealed the presence of cytoplasmic structures that were absent in the original IRD cells. Thus, both the deficiencies in metabolic pathways and paucity of the organelle are at least partially corrected in the selected clones.

  9. Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.

    PubMed

    Van Maldergem, L; Moser, A B; Vincent, M-F; Roland, D; Reding, R; Otte, J-B; Wanders, R J; Sokal, E

    2005-01-01

    Peroxisomal biogenesis defects include a number of severe neurodevelopmental disorders, among which infantile Refsum disease (IRD) occupies the mildest end of the spectrum. Although high docosahexaenoic acid (DHA) and low phytanic acid diets can correct some of the biochemical defects, they have not consistently altered the progressive course of the disease. We carried out orthotopic liver transplantation (OLT) in a mildly symptomatic 6-month-old infant who was a sibling of a severely neurologically impaired older sister. After transplantation the clinical course of this young child appeared much improved by comparison to her older sister. She walked alone at 4 years, had acceptable social interaction and had a noticeable recovery of audition. After transplantation her biochemical parameters were significantly improved: phytanic acid and very long-chain fatty acid (VLCFA) serum concentrations decreased. Abnormal bile acids disappeared from plasma. Although the OLT did not result in a cure of the disorder, the clinical and biochemical results suggest that OLT should be considered in mildly symptomatic patients.

  10. Mtu1-Mediated Thiouridine Formation of Mitochondrial tRNAs Is Required for Mitochondrial Translation and Is Involved in Reversible Infantile Liver Injury

    PubMed Central

    Wei, Fan-Yan; Suzuki, Takeo; Araki, Kimi; Komohara, Yoshihiro; Fujimura, Atsushi; Takeya, Motohiro; Oike, Yuichi; Suzuki, Tsutomu; Tomizawa, Kazuhito

    2016-01-01

    Reversible infantile liver failure (RILF) is a unique heritable liver disease characterized by acute liver failure followed by spontaneous recovery at an early stage of life. Genetic mutations in MTU1 have been identified in RILF patients. MTU1 is a mitochondrial enzyme that catalyzes the 2-thiolation of 5-taurinomethyl-2-thiouridine (τm5s2U) found in the anticodon of a subset of mitochondrial tRNAs (mt-tRNAs). Although the genetic basis of RILF is clear, the molecular mechanism that drives the pathogenesis remains elusive. We here generated liver-specific knockout of Mtu1 (Mtu1LKO) mice, which exhibited symptoms of liver injury characterized by hepatic inflammation and elevated levels of plasma lactate and AST. Mechanistically, Mtu1 deficiency resulted in a loss of 2-thiolation in mt-tRNAs, which led to a marked impairment of mitochondrial translation. Consequently, Mtu1LKO mice exhibited severe disruption of mitochondrial membrane integrity and a broad decrease in respiratory complex activities in the hepatocytes. Interestingly, mitochondrial dysfunction induced signaling pathways related to mitochondrial proliferation and the suppression of oxidative stress. The present study demonstrates that Mtu1-dependent 2-thiolation of mt-tRNA is indispensable for mitochondrial translation and that Mtu1 deficiency is a primary cause of RILF. In addition, Mtu1 deficiency is associated with multiple cytoprotective pathways that might prevent catastrophic liver failure and assist in the recovery from liver injury. PMID:27689697

  11. Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers

    PubMed Central

    Stenger, Elizabeth O.; Kazi, Zoheb; Lisi, Emily; Gambello, Michael J.; Kishnani, Priya

    2015-01-01

    Enzyme replacement therapy (ERT) has led to a significant improvement in the clinical course of patients with infantile Pompe disease (IPD), an autosomal recessive glycogen storage disorder characterized by the deficiency in lysosomal acid α-glucosidase. A subset of IPD patients mounts a substantial immune response to ERT developing high sustained anti-rhGAA IgG antibody titers (HSAT) leading to the ineffectiveness of this treatment. HSAT have been challenging to treat, although preemptive approaches have shown success in high-risk patients (those who are cross-reactive immunological material [CRIM]-negative). More recently, the addition of bortezomib, a proteasome inhibitor known to target plasma cells, to immunotherapy with rituximab, methotrexate, and intravenous immunoglobulin has shown success at significantly reducing the anti-rhGAA antibody titers in three patients with HSAT. In this report, we present the successful use of a bortezomib-based approach in a CRIM-positive IPD patient with HSAT and the use of a preemptive approach to prevent immunologic response in an affected younger sibling. We highlight the significant difference in clinical course between the two patients, particularly that a pre-emptive approach was simple and effective in preventing the development of high antibody titers in the younger sibling, thus supporting the role of immune tolerance induction (ITI) in the ERT-naïve high-risk setting. PMID:26167453

  12. Serum levels of renin, angiotensin-converting enzyme and angiotensin II in patients treated by surgical excision, propranolol and captopril for problematic proliferating infantile haemangioma.

    PubMed

    Sulzberger, L; Baillie, R; Itinteang, T; de Jong, S; Marsh, R; Leadbitter, P; Tan, S T

    2016-03-01

    The role of the renin-angiotensin system (RAS) in the biology of infantile haemangioma (IH) and its accelerated involution induced by β-blockers was first proposed in 2010. This led to the first clinical trial in 2012 using low-dose captopril, an angiotensin-converting enzyme (ACE) inhibitor, demonstrating a similar response in these tumours. This study aimed to compare serial serum levels of the components of the RAS in patients before and after surgical excision, propranolol or captopril treatment for problematic proliferating IH. Patients with problematic proliferating IH underwent measurements of serum levels of plasma renin activity (PRA), ACE and angiotensin II (ATII) before, and 1-2 and 6 months following surgical excision, propranolol or captopril treatment. This study included 27 patients undergoing surgical excision (n = 8), propranolol (n = 11) and captopril (n = 8) treatment. Treatment with either surgical excision or propranolol resulted in significant decrease in the mean levels of PRA. Surgical excision or captopril treatment led to significant decline in the mean levels of ATII. All three treatment modalities had no significant effect on the mean levels of ACE. This study demonstrates the effect of surgical excision, propranolol and captopril treatment in lowering the levels of PRA and ATII, but not ACE, supporting a mechanistic role for the RAS in the biology of IH. PMID:26612192

  13. Topographic variabilities of immunoreactivity to subunit c of mitochondrial ATP synthase and lectin binding in late infantile neuronal ceroid-lipofuscinosis.

    PubMed

    Kida, E; Wisniewski, K E; Connell, F

    1995-06-01

    A subset of lipophilic neurons in the brain tissue of late infantile neuronal ceroid lipofuscinosis (LINCL) cases shows in addition to finely granular storage lipopigment, larger spheroidal lysosomal inclusions, so called protein-type myoclonus bodies. Their incidence, significance, and biochemical composition have not been determined. To further characterize this type of lysosomal storage material, immunocytochemistry to subunit c of mitochondrial ATP synthase at the light and electron microscopy level, electron microscopy, and lectin histochemistry were applied. The majority of spheroidal inclusions were nonreactive to subunit c, the main protein component of the storage material in LINCL. These inclusions also showed no binding sites for the eight lectins examined, although six of the lectins used labeled finely granular storage material. According to electron and immunoelectron microscopy, spheroidal inclusions were composed of more homogeneous and more densely arranged material than typical curvilinear profiles, with shorter membranous profiles and sometime filamentous structures. The dissimilarities disclosed between finely granular lipopigment with curvilinear profiles and spheroidal inclusions in LINCL brain tissue suggest that either protein(s) other than subunit c are present in spheroidal inclusions, or subunit c in these sites undergoes conformational or proteolytic changes. These changes require further biochemical evaluations.

  14. [The effect of low doses of nakom on the hormonal secretion of the hypothalamo-hypophyseal-adrenal system in patients with infantile cerebral palsy].

    PubMed

    Brin, I L; Mashilov, K V

    1996-01-01

    The levels of hormones of hypothalamo-hypophyseal-adrenal system were measured in 14 10-14 year old children with infantile cerebral paralysis (ICP) with central catecholaminergic motor insufficiency. Contents of adrenocorticotropic hormone (ACTH), hydrocortisone (HC), somatotropic hormone, prolactin (P) were examined before and during Nacome administration (62.5 mg once daily in the morning). 110 patients of the same age with ICP and 18 children with acquired encephalopathy (EP) formed the control group. The elevations of ACTH, HC and P were revealed in spastic forms of ICP. Meanwhile nearly normal hormonal levels were observed in hyperkinetic forms of ICP and EP. The more pronounced effect was noted in "dopamine-dependent" children in which the drug's administration resulted in normalization of clinical and biochemical indices. Hyperkinetic phenomena revealed the connection between the character of neuromotor dyskinesias and the state of hypothalamo-hypophyseal-adrenal axis which is regulated by dopamine. The data obtained show hypofunction of dopaminergic neurotransmitter cerebral systems in patients with ICP that plays important pathogenetic role in development of disease with systemic manifestations. PMID:9281279

  15. [Significance of the hypertensive syndrome in the clinical aspects of the late residual stage of infantile cerebral palsy (based on ultrasonic encephalographic data)].

    PubMed

    Semenova, K A; Grechko, V E; Shamarin, T G

    1977-01-01

    The report is concerned with an analysis of the results of an echoencphalographic study of 201 children with infantile cerebral paralysis in the form of spastic diplegia. The examined children were from 3-14 years with different degrees of motor disturbances and intellectual defects. The echoencephalograms in 22% of the cases detected a displacement of M-echo to 2 mm and more. In 20%--there were signs of a light dilatation of the III brain ventricle and in 41%--of moderate dilatation. A correlation of echoencephalographic data with clinical symptoms demonstrated that a displacement of M-echo signs of a dilation of the III ventricle are more frequently encountered in children with a more severe motor and intellectual deficiency. The authors studied the influence of a comprehensive treatment (medicamental therapy, therapeutic physical training, corrective training, physical and mental loadings on the liquorodynamic disbalance. The study demonstrates the informativeness of the echoencephalographic method not only in the detection of the hypertensive syndrome, but in defining the degree of its expressiveness and during the development of the hypertenensive syndrome under the influence of different therapeutical measures. PMID:930494

  16. Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus

    SciTech Connect

    Hellsten, E.; Vesa, J.; Peltonen, L.

    1995-01-20

    Infantile neuronal ceroid lipofuscinosis (INCL, CLN1) is a neurodegenerative disorder in which the biochemical defect is unknown. We earlier assigned the disease locus to chromosome 1p32 in the immediate vicinity of the highly informative HY-TM1 marker by linkage and linkage disequilibrium analysis. Here we report the construction of PFGE maps on the CLN1 region covering a total of 4 Mb of this relatively poorly mapped chromosomal region. We established the order of loci at 1p32 as tel-D1S57-L-myc-HY-TM1-rlf-COL9A2-D1S193-D1S62-D1S211-cen by combining data obtained from analysis of a chromosome 1 somatic cell hybrid panel, PFGE, and interphase FISH. We isolated YACs and constructed two separate YAC contigs, the loci L-myc, HY-TM1, rlf, and COL9A2 being present on a 1000-kb contig and the markers D1S193, D1S62, and D1S211 on a YAC contig spanning a maximum of 860 kb. Within the 1000-kb contig we were able to identify five CpG islands in addition to those associated with the earlier cloned genes. The YAC contigs as well as the physical map provide us with tools for the identification of the INCL gene. 36 refs., 4 figs., 3 tabs.

  17. De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

    PubMed Central

    Cushion, Thomas D.; Paciorkowski, Alex R.; Pilz, Daniela T.; Mullins, Jonathan G.L.; Seltzer, Laurie E.; Marion, Robert W.; Tuttle, Emily; Ghoneim, Dalia; Christian, Susan L.; Chung, Seo-Kyung; Rees, Mark I.; Dobyns, William B.

    2014-01-01

    Tubulins, and microtubule polymers into which they incorporate, play critical mechanical roles in neuronal function during cell proliferation, neuronal migration, and postmigrational development: the three major overlapping events of mammalian cerebral cortex development. A number of neuronally expressed tubulin genes are associated with a spectrum of disorders affecting cerebral cortex formation. Such “tubulinopathies” include lissencephaly/pachygyria, polymicrogyria-like malformations, and simplified gyral patterns, in addition to characteristic extracortical features, such as corpus callosal, basal ganglia, and cerebellar abnormalities. Epilepsy is a common finding in these related disorders. Here we describe two unrelated individuals with infantile-onset epilepsy and abnormalities of brain morphology, harboring de novo variants that affect adjacent amino acids in a beta-tubulin gene TUBB2A. Located in a highly conserved loop, we demonstrate impaired tubulin and microtubule function resulting from each variant in vitro and by using in silico predictive modeling. We propose that the affected functional loop directly associates with the alpha-tubulin-bound guanosine triphosphate (GTP) molecule, impairing the intradimer interface and correct formation of the alpha/beta-tubulin heterodimer. This study associates mutations in TUBB2A with the spectrum of “tubulinopathy” phenotypes. As a consequence, genetic variations affecting all beta-tubulin genes expressed at high levels in the brain (TUBB2B, TUBB3, TUBB, TUBB4A, and TUBB2A) have been linked with malformations of cortical development. PMID:24702957

  18. AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease

    PubMed Central

    Katz, Martin L.; Tecedor, Luis; Chen, Yonghong; Williamson, Baye G.; Lysenko, Elena; Wininger, Fred A.; Young, Whitney M.; Johnson, Gayle C.; Whiting, Rebecca E. H.; Coates, Joan R.; Davidson, Beverly L.

    2016-01-01

    The most common form of the childhood neurodegenerative disease late infantile neuronal ceroid lipofuscinosis (also called Batten disease) is caused by deficiency of the soluble lysosomal enzyme tripeptidyl peptidase 1 (TPP1) resulting from mutations in the TPP1 gene. We tested whether TPP1 gene transfer to the ependyma, the epithelial lining of the brain ventricular system, in TPP1-deficient dogs would be therapeutically beneficial. A one-time administration of recombinant adeno-associated virus (rAAV) expressing canine TPP1 (rAAV.caTPP1) resulted in high expression of TPP1 predominantly in ependymal cells and secretion of the enzyme into the cerebrospinal fluid leading to clinical benefit. Diseased dogs treated with rAAV.caTPP1 showed delays in onset of clinical signs and disease progression, protection from cognitive decline, and extension of life span. By immunostaining and enzyme assay, recombinant protein was evident throughout the brain and spinal cord, with correction of the neuropathology characteristic of the disease. This study in a naturally occurring canine model of TPP1 deficiency highlights the utility of AAV transduction of ventricular lining cells to accomplish stable secretion of recombinant protein for broad distribution in the central nervous system and therapeutic benefit. PMID:26560358

  19. Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.

    PubMed

    Akman, Hasan O; Sampayo, James N; Ross, Fiona A; Scott, John W; Wilson, Gregory; Benson, Lee; Bruno, Claudio; Shanske, Sara; Hardie, D Grahame; Dimauro, Salvatore

    2007-10-01

    A 10-wk-old infant girl with severe hypertrophy of the septal and atrial walls by cardiac ultrasound, developed progressive ventricular wall thickening and died of aspiration pneumonia at 5 mo of age. Postmortem examination revealed ventricular hypertrophy and massive atrial wall thickening due to glycogen accumulation. A skeletal muscle biopsy showed increased free glycogen and decreased activity of phosphorylase b kinase (PHK). The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) in three infants with congenital hypertrophic cardiomyopathy, glycogen storage, and "pseudo PHK deficiency" prompted us to screen this gene in our patient. We found a novel (R384T) heterozygous mutation in PRKAG2, affecting an arginine residue in the N-terminal AMP-binding domain. Like R531Q, this mutation reduces the binding of AMP and ATP to the isolated nucleotide-binding domains, and prevents activation of the heterotrimer by metabolic stress in intact cells. The mutation was not found in DNA from the patient's father, the only available parent, and is likely to have arisen de novo. Our studies confirm that mutations in PRKAG2 can cause fatal infantile cardiomyopathy, often associated with apparent PHK deficiency.

  20. [Changes in the indices of standing and walking in patients with infantile cerebral palsy under the influence of low doses of Nakom].

    PubMed

    Brin, I L; Bakhteev, K K

    1995-01-01

    10 patients were treated with Nacom preparation (62.5 mg/daily in one dose in the morning). Both the feet support area during standing of one leg and the vertical component of support reactions were examined by the using EMED pedographic analyser (Germany-Japan). These indexes were analysed in patients before treatment, in patients treated with Nacom early--in a week after its withdrawal and after 1 months of Nacom administration. It was determined that support area of equinovarus feet was enlarged during the treatment due to the increase of the loading on the heel and the middle part of the feet. Meanwhile the support area of equinovarus feet was decreased as a consequence of loading alterations on foot inner side. The varus component of deformation turned out to be subjected most of all to Nacom action while the equinus one underwent less alterations and the valgus one has changed insignificantly. The improvement of dynamic characteristics of walking, support and pushing legs functions as well as of relations between support step periods phases was observed in all patients. The Nacom effect depended upon the type of initial feet deformation. The results obtained were explained in terms of decrease in influence of both tonic cervical reflexes and synergic tonic reactions on feet. That resulted in alterations in biomechanic and innervation components of static locomotor functions in infantile cerebral paralysis. PMID:8585374

  1. Severity of infantile nystagmus syndrome-like ocular motor phenotype is linked to the extent of the underlying optic nerve projection defect in zebrafish belladonna mutant.

    PubMed

    Huber-Reggi, Sabina P; Chen, Chien-Cheng; Grimm, Lea; Straumann, Dominik; Neuhauss, Stephan C F; Huang, Melody Ying-Yu

    2012-12-12

    Infantile nystagmus syndrome (INS), formerly known as congenital nystagmus, is an ocular motor disorder in humans characterized by spontaneous eye oscillations (SOs) and, in several cases, reversed optokinetic response (OKR). Its etiology and pathomechanism is largely unknown, but misrouting of the optic nerve has been observed in some patients. Likewise, optic nerve misrouting, a reversed OKR and SOs with INS-like waveforms are observed in zebrafish belladonna (bel) mutants. We aimed to investigate whether and how misrouting of the optic nerve correlates with the ocular motor behaviors in bel larvae. OKR and SOs were quantified and subsequently the optic nerve fibers were stained with fluorescent lipophilic dyes. Eye velocity during OKR was reduced in larvae with few misprojecting optic nerve fibers and reversed in larvae with a substantial fraction of misprojecting fibers. All larvae with reversed OKR also displayed SOs. A stronger reversed OKR correlated with more frequent SOs. Since we did not find a correlation between additional retinal defects and ocular motor behavior, we suggest that axon misrouting is in fact origin of INS in the zebrafish animal model. Depending on the ratio between misprojecting ipsilateral and correctly projecting contralateral fibers, the negative feedback loop normally regulating OKR can turn into a positive loop, resulting in an increase in retinal slip. Our data not only give new insights into the etiology of INS but may also be of interest for studies on how the brain deals with and adapts to conflicting inputs. PMID:23238723

  2. A Common Polymorphism within the IGF2 Imprinting Control Region Is Associated with Parent of Origin Specific Effects in Infantile Hemangiomas

    PubMed Central

    Schultz, Brent; Yao, Xiaopan; Deng, Yanhong; Waner, Milton; Spock, Christopher; Tom, Laura; Persing, John; Narayan, Deepak

    2015-01-01

    Infantile hemangioma (IH) is the most common tumor of the pediatric age group, affecting up to 4% of newborns ranging from inconsequential blemishes, to highly aggressive tumors. Following well defined growth phases (proliferative, plateau involutional) IH usually regress into a fibro-fatty residuum. Despite the high prevalence of IH, little is known regarding the pathogenesis of disease. A reported six fold decrease in IGF2 expression (correlating with transformation of proliferative to involuted lesions) prompted us to study the IGF-2 axis further. We demonstrate that IGF2 expression in IH is strongly related to the expression of a cancer testes and suspected oncogene BORIS (paralog of CTCF), placing IH in the unique category of being the first known benign BORIS positive tumor. IGF2 expression was strongly and positively related to BORIS transcript expression. Furthermore, a stronger association was made when comparing BORIS levels against the expression of CTCF via either a percentage or difference between the two. A common C/T polymorphism at CTCF BS6 appeared to modify the correlation between CTCF/BORIS and IGF2 expression in a parent of origin specific manner. Moreover, these effects may have phenotypic consequences as tumor growth also correlates with the genotype at CTCF BS6. This may provide a framework for explaining the clinical variability seen in IH and suggests new insights regarding CTCF and BORIS related functionality in both normal and malignant states. PMID:26496499

  3. Prognostic factors in multiple myeloma: definition of risk groups in 410 previously untreated patients: a Grupo Argentino de Tratamiento de la Leucemia Aguda study.

    PubMed

    Corrado, C; Santarelli, M T; Pavlovsky, S; Pizzolato, M

    1989-12-01

    Four hundred ten previously untreated multiple myeloma patients entered onto two consecutive Grupo Argentino de Tratamiento de la Leucemia Aguda (GATLA) protocols were analyzed to identify significant prognostic factors influencing survival. The univariate analysis selected the following variables: performance status, renal function, percentage of bone marrow plasma cells at diagnosis, hemoglobin, and age. A multivariate analysis showed that performance status, renal function, percentage of bone marrow plasma cells, hemoglobin, and age were the best predictive variables for survival. A score was assigned to each patient according to these variables, which led to their classification in three groups: good, intermediate, and poor risk, with a probability of survival of 26% and 10% at 96 months, and 5% at 56 months, and median survival of 60, 37, and 14 months, respectively (P = .0000). In our patient population, this model proved to be superior to the Durie-Salmon staging system in defining prognostic risk groups, and separating patients with significantly different risks within each Durie-Salmon stage.

  4. A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

    PubMed Central

    2014-01-01

    Background Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases. Rare mutations in a single gene or in copy number variants (CNVs) have been implicated in IS of children in Western countries. The objective of this study was to dissect the role of copy number variations in Chinese children with infantile spasms. Methods We used the Agilent Human Genome CGH microarray 180 K for genome-wide detection of CNVs. Real-time qPCR was used to validate the CNVs. We performed genomic and medical annotations for individual CNVs to determine the pathogenicity of CNVs related to IS. Results We report herein the first genome-wide CNV analysis in children with IS, detecting a total of 14 CNVs in a cohort of 47 Chinese children with IS. Four CNVs (4/47 = 8.5%) (1q21.1 gain; 1q44, 2q31.1, and 17p13 loss) are considered to be pathogenic. The CNV loss at 17p13.3 contains PAFAH1B1 (LIS1), a causative gene for lissencephaly. Although the CNVs at 1q21.1, 1q44, and 2q23.1 have been previously implicated in a wide spectrum of clinical features including autism spectrum disorders (ASD) and generalized seizure, our study is the first report identifying them in individuals with a primary diagnosis of IS. The CNV loss in the 1q44 region contains HNRNPU, a strong candidate gene recently suggested in IS by the whole exome sequencing of children with IS. The CNV loss at 2q23.1 includes MBD5, a methyl-DNA binding protein that is a causative gene of ASD and a candidate gene for epileptic encephalopathy. We also report a distinct clinical presentation of IS, microcephaly, intellectual disability, and absent hallux in a case with the 2q23.1 deletion. Conclusion Our findings strongly support the role of CNVs in infantile spasms and expand the clinical spectrum associate with 2q23.1 deletion. In particular, our

  5. Tratamiento Quirúrgico de los Meningiomas del Foramen Óptico, Técnicay Resultados de una Serie de 18 Pacientes

    PubMed Central

    Goldschmidt, Ezequiel; Ajler, Pablo; Campero, Álvaro; Landriel, Federico; Sposito, Maximiliano; Carrizo, Antonio

    2014-01-01

    Introducción: los meningiomas del foramen óptico producen un rápido deterioro de la función visual aún cuando su tamaño es pequeño, por eso su diagnóstico y manejo difiere del resto de los meningiomas clinoideos. El propósito de este estudio es presentar la técnica y los resultados de nuestro manejo quirúrgico de meningiomas foraminales (MF). Pacientes y Métodos: se llevó a cabo una revisión de las historias clínicas de 47 pacientes con meningiomas primarios intraorbitarios. Se realizaron 52 cirugías en los pacientes con MF. Se empleó una craneotomía fronto-orbitaria, seguida de una descompresión extradural del canal óptico, resección del componente intraorbitario y exploración intradural del nervio óptico. Resultados: de los 12 pacientes con MF que presentaban la visión conservada, la agudeza visual fue preservada en 7 casos, mejoró en 2, y empeoró en 3. En 18 pacientes, el principal síntoma fue exoftalmos y en 35 pacientes ceguera unilateral. Ocurrieron 6 recurrencias, 2 a 10 años después de la resección quirúrgica. Cinco de ellos fueron reoperados. Se indicó radioterapia después de la recurrencia en 3 pacientes. Conclusión: el manejo de los MF continúa siendo controvertido y frecuentemente se propone un tratamiento conservador. Basados en nuestros hallazgos de frecuente extensión intracraneal, proponemos realizar una resección total o subtotal del tumor, preservando el nervio óptico en pacientes con visión prequirúrgica conservada. PMID:25165616

  6. The same unique mutation in the arylsulfatase A gene causes late infantile metachromatic leukodystrophy in the Navajo and Western Eskimo populations

    SciTech Connect

    Pastor-Soler, N.M.; Hu, D.; Schertz, E.

    1994-09-01

    Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by defective catabolism of sulfatide, an important sphingolipid in myelin. Late infantile (LI), juvenile and adult patients with MLD are found throughout the world. Mutational analysis of the ARSA gene in patients with MLD has resulted in the identification of about 30 mutations. Recently we identified a mutation in the ARSA gene that was present in all Navajo Indian patients tested with LIMLD. All of the patients were homozygous for the G to A change at position 1 of intron 4 which causes aberrant splicing and a low level of ARSA mRNA. This mutation had not been found in any non-Navajo population. However, recently we were sent samples from two Alaskan Eskimo siblings with LIMLD. Sequencing of amplified genomic DNA showed that the affected siblings were homozygous for the above mutation. A simple DNA-based test will permit accurate patient and carrier identification in both the Eskimo and Navajo populations. Many studies have focused on the migrations of the Amerindian, Athapaskan and Eskimo from eastern Asia to the new world and the intermingling of these peoples. While it is clear that Na-Dene speaking Navajo split from other Athapaskan tribes and migrated from western Canada and Alaska to the southwest area of the United States, a direct genetic connection between the Western Eskimo and the Navajo has not been made. The presence of the same unique mutation causing a fatal inherited disease in both populations may point to interaction between these peoples prior to the migration of the Navajos south about 1000 years ago.

  7. Fractional carbon dioxide laser-assisted drug delivery of topical timolol solution for the treatment of deep infantile hemangioma: a pilot study.

    PubMed

    Ma, Gang; Wu, Pinru; Lin, Xiaoxi; Chen, Hui; Hu, Xiaojie; Jin, Yunbo; Qiu, Yajing

    2014-01-01

    Infantile hemangiomas (IHs) are benign vascular tumors of infancy. Topical timolol has recently been reported to be an effective treatment for superficial IHs, although it failed to have an effect on deep IHs. This prospective study was aimed at evaluating the feasibility of ablative fractional laser-assisted drug delivery for enhancing topical timolol permeation into deep IHs. Nine patients ages 1 to 6 months with deep IHs were enrolled. A fractional carbon dioxide (CO2 ) laser system was applied to the skin surface of deep IHs using the DeepFx mode (25-30 mJ/pulse, 5% density, single pulse) at 1-week intervals. Topical timolol maleate 0.5% ophthalmic solution was applied under occlusion for 30 minutes four to five times per day for an average treatment duration of 14.2 weeks. Clinical improvement was evaluated according to a global score and the Hemangioma Activity Score (HAS). Four patients (44.4%) demonstrated excellent regression, four (44.4%) showed good response, and one (11.1%) experienced moderate regression. The HAS declined from 4.1 ± 0.7 at baseline to 1.7 ± 0.7 at 1 week (p < 0.001) and 1.4 ± 0.7 at 3 months (p = 0.03) after the last treatment procedure. Plasma timolol concentration was not detected in any of the patients after the first administration of topical timolol. No systemic complication or skin side effects were observed in any of the patients. Ablative fractional laser-assisted transdermal delivery of topical timolol is a safe and effective method for the treatment of deep IHs.

  8. Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

    PubMed

    Muona, Mikko; Ishimura, Ryosuke; Laari, Anni; Ichimura, Yoshinobu; Linnankivi, Tarja; Keski-Filppula, Riikka; Herva, Riitta; Rantala, Heikki; Paetau, Anders; Pöyhönen, Minna; Obata, Miki; Uemura, Takefumi; Karhu, Thomas; Bizen, Norihisa; Takebayashi, Hirohide; McKee, Shane; Parker, Michael J; Akawi, Nadia; McRae, Jeremy; Hurles, Matthew E; Kuismin, Outi; Kurki, Mitja I; Anttonen, Anna-Kaisa; Tanaka, Keiji; Palotie, Aarno; Waguri, Satoshi; Lehesjoki, Anna-Elina; Komatsu, Masaaki

    2016-09-01

    The ubiquitin fold modifier 1 (UFM1) cascade is a recently identified evolutionarily conserved ubiquitin-like modification system whose function and link to human disease have remained largely uncharacterized. By using exome sequencing in Finnish individuals with severe epileptic syndromes, we identified pathogenic compound heterozygous variants in UBA5, encoding an activating enzyme for UFM1, in two unrelated families. Two additional individuals with biallelic UBA5 variants were identified from the UK-based Deciphering Developmental Disorders study and one from the Northern Finland Intellectual Disability cohort. The affected individuals (n = 9) presented in early infancy with severe irritability, followed by dystonia and stagnation of development. Furthermore, the majority of individuals display postnatal microcephaly and epilepsy and develop spasticity. The affected individuals were compound heterozygous for a missense substitution, c.1111G>A (p.Ala371Thr; allele frequency of 0.28% in Europeans), and a nonsense variant or c.164G>A that encodes an amino acid substitution p.Arg55His, but also affects splicing by facilitating exon 2 skipping, thus also being in effect a loss-of-function allele. Using an in vitro thioester formation assay and cellular analyses, we show that the p.Ala371Thr variant is hypomorphic with attenuated ability to transfer the activated UFM1 to UFC1. Finally, we show that the CNS-specific knockout of Ufm1 in mice causes neonatal death accompanied by microcephaly and apoptosis in specific neurons, further suggesting that the UFM1 system is essential for CNS development and function. Taken together, our data imply that the combination of a hypomorphic p.Ala371Thr variant in trans with a loss-of-function allele in UBA5 underlies a severe infantile-onset encephalopathy. PMID:27545674

  9. A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.

    PubMed

    Zeng, Binghui; Li, Ru; Hu, Yuelin; Hu, Bin; Zhao, Qiang; Liu, Huijiao; Yuan, Ping; Wang, Yiming

    2016-01-15

    Osteopetrosis is a group of heterogeneous disorders caused by the dysfunction of osteoclasts. The CLCN7 and TCIRG1 genes are the major obligate genes responsible for infantile malignant osteopetrosis (IMO). IMO patients usually die in infancy or before three years of age. In this study, we report a patient who was diagnosed with IMO at seven months of age. The patient presented with classical radiological features of IMO. She also exhibited erythropenia, thrombocytopenia, hepatosplenomegaly and neurodegeneration. The parents discontinued any medical treatment for the patient. Surprisingly, the patient's condition did not deteriorate when she was admitted a second time at the age of four years and nine months, despite not receiving any medical support during the untreated period. We sequenced the CLCN7 and TCIRG1 genes of the patient and her parents and identified a novel c.285+1G>A (IVS3+1G>A) mutation and the known c.896C>T (p.Ala299Val) mutation. The novel c.285+1G>A mutation occurred on the splice donor of the third intron of CLCN7. This mutation was predicted to interfere with normal splicing between exons 3 and 4, thereby truncating 711 amino acids from the C terminus and resulting in the loss of all of the functional domains of the encoded protein. The c.896C>T (p.Ala299Val) mutation was a previously known pathogenic mutation. We did not find any pathogenic mutations in the TCIRG1 gene. CLCN7-related osteopetrosis is known to have a high phenotype heterogeneity. Our study demonstrates a wide heterogeneity in the progression of the phenotypes and expanded the mutational spectrum for the CLCN7 gene.

  10. Perceived efficacy of cannabidiol-enriched cannabis extracts for treatment of pediatric epilepsy: A potential role for infantile spasms and Lennox-Gastaut syndrome.

    PubMed

    Hussain, Shaun A; Zhou, Raymond; Jacobson, Catherine; Weng, Julius; Cheng, Emily; Lay, Johnson; Hung, Phoebe; Lerner, Jason T; Sankar, Raman

    2015-06-01

    There is a great need for safe and effective therapies for treatment of infantile spasms (IS) and Lennox-Gastaut syndrome (LGS). Based on anecdotal reports and limited experience in an open-label trial, cannabidiol (CBD) has received tremendous attention as a potential treatment for pediatric epilepsy, especially Dravet syndrome. However, there is scant evidence of specific utility for treatment of IS and LGS. We sought to document the experiences of children with IS and/or LGS who have been treated with CBD-enriched cannabis preparations. We conducted a brief online survey of parents who administered CBD-enriched cannabis preparations for the treatment of their children's epilepsy. We specifically recruited parents of children with IS and LGS and focused on perceived efficacy, dosage, and tolerability. Survey respondents included 117 parents of children with epilepsy (including 53 with IS or LGS) who had administered CBD products to their children. Perceived efficacy and tolerability were similar across etiologic subgroups. Eighty-five percent of all parents reported a reduction in seizure frequency, and 14% reported complete seizure freedom. Epilepsy was characterized as highly refractory with median latency from epilepsy onset to CBD initiation of five years, during which the patient's seizures failed to improve after a median of eight antiseizure medication trials. The median duration and the median dosage of CBD exposure were 6.8 months and 4.3mg/kg/day, respectively. Reported side effects were far less common during CBD exposure, with the exception of increased appetite (30%). A high proportion of respondents reported improvement in sleep (53%), alertness (71%), and mood (63%) during CBD therapy. Although this study suggests a potential role for CBD in the treatment of refractory childhood epilepsy including IS and LGS, it does not represent compelling evidence of efficacy or safety. From a methodological standpoint, this study is extraordinarily vulnerable

  11. Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex

    PubMed Central

    Rather, Mohammad Iqbal; Bhat, Vishwanath; Gopinath, Sindhura; Bindu, Parayil Sankaran; Taly, Arun B.; Sinha, Sanjib; Nagappa, Madhu; Bharath, Rose Dawn; Mahadevan, Anita; Narayanappa, Gayathri; Chickabasaviah, Yasha T.; Kumar, Arun

    2016-01-01

    Mutations in PLA2G6 were identified in patients with a spectrum of neurodegenerative conditions, such as infantile neuroaxonal dystrophy (INAD), atypical late-onset neuroaxonal dystrophy (ANAD) and dystonia parkinsonism complex (DPC). However, there is no report on the genetic analysis of families with members affected with INAD, ANAD and DPC from India. Therefore, the main aim of this study was to perform genetic analysis of 22 Indian families with INAD, ANAD and DPC. DNA sequence analysis of the entire coding region of PLA2G6 identified 13 different mutations, including five novel ones (p.Leu224Pro, p.Asp283Asn, p.Arg329Cys, p.Leu491Phe, and p.Arg649His), in 12/22 (54.55%) families with INAD and ANAD. Interestingly, one patient with INAD was homozygous for two different mutations, p.Leu491Phe and p.Ala516Val, and thus harboured four mutant alleles. With these mutations, the total number of mutations in this gene reaches 129. The absence of mutations in 10/22 (45.45%) families suggests that the mutations could be in deep intronic or promoter regions of this gene or these families could have mutations in a yet to be identified gene. The present study increases the mutation landscape of PLA2G6. The present finding will be useful for genetic diagnosis, carrier detection and genetic counselling to families included in this study and other families with similar disease condition. PMID:27196560

  12. Altered glutamate receptor function in the cerebellum of the Ppt1−/− mouse, a murine model of infantile neuronal ceroid lipofuscinosis

    PubMed Central

    Finn, Rozzy; Kovács, Attila D.; Pearce, David A.

    2011-01-01

    The neuronal ceroid lipofuscinoses (NCLs) are a family of devastating pediatric neurodegenerative disorders and currently represent the most common form of pediatric-onset neurodegeneration. Infantile NCL (INCL), the most aggressive of these disorders, is caused by mutations in the CLN1 gene that encodes the enzyme palmitoyl protein thioesterase 1 (PPT1). Previous studies have suggested that glutamatergic neurotransmission may be disrupted in INCL, and therefore, the present study investigates glutamate receptor function in the Ppt1−/− mouse model of INCL by comparing the sensitivity of cultured WT and Ppt1−/− cerebellar granule cells to glutamate receptor-mediated toxicity. Ppt1−/− neurons were significantly less sensitive to AMPA receptor-mediated toxicity but markedly more vulnerable to NMDA receptor-mediated cell death. Since glutamate receptor function is primarily regulated by the surface expression level of the receptor, the surface level of AMPA and NMDA receptor subunits in the cerebella of WT and Ppt1−/− mice was also examined. Western blotting of surface cross-linked cerebellar samples showed a significantly lower surface level of the GluR4 AMPA receptor subunit in Ppt1−/− mice, providing a plausible explanation for the decreased vulnerability of Ppt1−/− cerebellar neurons to AMPA receptor-mediated cell death. The surface expression of the NR1, NR2A and NR2B NMDA receptor subunits was similar in the cerebella of WT and Ppt1−/− mice, indicating that there is another mechanism behind the increased sensitivity of Ppt1−/− cerebellar granule cells to NMDA toxicity. Our results indicate an AMPA receptor hypo- and NMDA receptor hyperfunction phenotype in Ppt1−/− neurons and provide new therapeutic targets for INCL. PMID:21971706

  13. Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase.

    PubMed

    Ezaki, J; Takeda-Ezaki, M; Kominami, E

    2000-09-01

    The specific accumulation of a hydrophobic protein, subunit c of ATP synthase, in lysosomes from the cells of patients with the late infantile form of NCL (LINCL) is caused by a defect in the CLN2 gene product, tripeptidyl peptidase I (TPP-I). The data here show that TPP-I is involved in the initial degradation of subunit c in lysosomes and suggest that its absence leads directly to the lysosomal accumulation of subunit c. The inclusion of a specific inhibitor of TPP-I, Ala-Ala-Phe-chloromethylketone (AAF-CMK), in the culture medium of normal fibroblasts induced the lysosomal accumulation of subunit c. In an in vitro incubation experiment the addition of AAF-CMK to mitochondrial-lysosomal fractions from normal cells inhibited the proteolysis of subunit c, but not the b-subunit of ATP synthase. The use of two antibodies that recognize the aminoterminal and the middle portion of subunit c revealed that the subunit underwent aminoterminal proteolysis, when TPP-I, purified from rat spleen, was added to the mitochondrial fractions. The addition of both purified TPP-I and the soluble lysosomal fractions, which contain various proteinases, to the mitochondrial fractions resulted in rapid degradation of the entire molecule of subunit c, whereas the degradation of subunit c was markedly delayed through the specific inhibition of TPP-I in lysosomal extracts by AAF-CMK. The stable subunit c in the mitochondrial-lysosomal fractions from cells of a patient with LINCL was degraded on incubation with purified TPP-I. The presence of TPP-I led to the sequential cleavage of tripeptides from the N-terminus of the peptide corresponding to the amino terminal sequence of subunit c.

  14. Evaluation of an enzyme-linked immunosorbent assay based on crude Leishmania histone proteins for serodiagnosis of human infantile visceral leishmaniasis.

    PubMed

    Lakhal, Sami; Mekki, Salima; Ben-Abda, Imène; Mousli, Mohamed; Amri, Fethi; Aoun, Karim; Bouratbine, Aïda

    2012-09-01

    Human visceral leishmaniasis (VL) is routinely diagnosed by detecting IgG that specifically binds to Leishmania antigens. The enzyme-linked immunosorbent assay (ELISA) remains a widely used method. However, the biggest challenge remains the choice of antigen with the highest specificity and sensitivity. This study is aimed at assessing the diagnostic performances of crude Leishmania histone (CLH) protein-based ELISAs in Mediterranean VL patients. The CLH proteins were biochemically purified from promastigote nuclear extracts. Their reactivities were analyzed by Western blotting (WB) using rabbit polyclonal antibodies against Leishmania recombinant histones and sera from VL patients, respectively. Then, the diagnostic potential of CLH proteins was validated by the CLH-based ELISA using 42 infantile VL patients' sera and 70 control subjects. The CLH-based ELISA performance was compared to that of the soluble Leishmania antigen (SLA)- and the recombinant K39 (rK39)-based ELISAs. Analysis of the WB profile with the use of polyclonal antibodies confirmed the histone origin of low molecular mass proteins (12 to 16 kDa). All VL samples tested presented antibodies reacting against different antigen fractions; however, recognition patterns were different depending on the reactivity of each serum. CLH-based ELISA showed an excellent ability to discriminate between VL cases and healthy controls (97.6% sensitivity and 100% specificity). It had a diagnostic performance similar to that of rK39-based ELISA (97.6% sensitivity and 97.1% specificity, P = 0.5) and a better serodiagnosis accuracy than the SLA-based ELISA (85.7% sensitivity and 90% specificity, P < 0.05). Therefore, crude Leishmania histone extract could be a valuable antigen for clinical use.

  15. Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

    PubMed

    Chao, Yu-Hsin; Robak, Laurie A; Xia, Fan; Koenig, Mary K; Adesina, Adekunle; Bacino, Carlos A; Scaglia, Fernando; Bellen, Hugo J; Wangler, Michael F

    2016-05-01

    Defects in organelle dynamics underlie a number of human degenerative disorders, and whole exome sequencing (WES) is a powerful tool for studying genetic changes that affect the cellular machinery. WES may uncover variants of unknown significance (VUS) that require functional validation. Previously, a pathogenic de novo variant in the middle domain of DNM1L (p.A395D) was identified in a single patient with a lethal defect of mitochondrial and peroxisomal fission. We identified two additional patients with infantile encephalopathy and partially overlapping clinical features, each with a novel VUS in the middle domain of DNM1L (p.G350R and p.E379K). To evaluate pathogenicity, we generated transgenic Drosophila expressing wild-type or variant DNM1L. We find that human wild-type DNM1L rescues the lethality as well as specific phenotypes associated with the loss of Drp1 in Drosophila. Neither the p.A395D variant nor the novel variant p.G350R rescue lethality or other phenotypes. Moreover, overexpression of p.A395D and p.G350R in Drosophila neurons, salivary gland and muscle strikingly altered peroxisomal and mitochondrial morphology. In contrast, the other novel variant (p.E379K) rescued lethality and did not affect organelle morphology, although it was associated with a subtle mitochondrial trafficking defect in an in vivo assay. Interestingly, the patient with the p.E379K variant also has a de novo VUS in pyruvate dehydrogenase 1 (PDHA1) affecting the same amino acid (G150) as another case of PDHA1 deficiency suggesting the PDHA1 variant may be pathogenic. In summary, detailed clinical evaluation and WES with functional studies in Drosophila can distinguish different functional consequences of newly-described DNM1L alleles.

  16. Constitutive Store-Operated Ca(2+) Entry Leads to Enhanced Nitric Oxide Production and Proliferation in Infantile Hemangioma-Derived Endothelial Colony-Forming Cells.

    PubMed

    Zuccolo, Estella; Bottino, Cinzia; Diofano, Federica; Poletto, Valentina; Codazzi, Alessia Claudia; Mannarino, Savina; Campanelli, Rita; Fois, Gabriella; Marseglia, Gian Luigi; Guerra, Germano; Montagna, Daniela; Laforenza, Umberto; Rosti, Vittorio; Massa, Margherita; Moccia, Francesco

    2016-02-15

    Clonal endothelial progenitor cells (EPCs) have been implicated in the aberrant vascular growth that features infantile hemangioma (IH), the most common benign vascular tumor in childhood that may cause ulceration, bleeding, and/or permanent disfigurement. Endothelial colony-forming cells (ECFCs), truly endothelial EPCs endowed with clonal ability and capable of forming patent vessels in vivo, remodel their Ca(2+) toolkit in tumor-derived patients to acquire an adaptive advantage. Particularly, they upregulate the proangiogenic store-operated Ca(2+) entry (SOCE) pathway due to the overexpression of its underlying components, that is, stromal interaction molecule 1 (Stim1), Orai1, and transient receptor potential canonical 1 (TRPC1). The present work was undertaken to assess whether and how the Ca(2+) signalosome is altered in IH-ECFCs by employing Ca(2+) and nitric oxide (NO) imaging, real-time polymerase chain reaction, western blotting, and functional assays. IH-ECFCs display a lower intracellular Ca(2+) release in response to either pharmacological (i.e., cyclopiazonic acid) or physiological (i.e., ATP and vascular endothelial growth factor) stimulation. Conversely, Stim1, Orai1, and TRPC1 transcripts and proteins are normally expressed in these cells and mediate a constitutive SOCE, which is sensitive to BTP-2, La(3+), and Pyr6 and recharges the intracellular Ca(2+) pool. The resting SOCE in IH-ECFCs is also associated to an increase in their proliferation rate and the basal production of NO compared to normal cells. Likewise, the pharmacological blockade of SOCE and NO synthesis block IH-ECFC growth. Collectively, these data indicate that the constitutive SOCE activation enhances IH-ECFC proliferation by augmenting basal NO production and sheds novel light on the molecular mechanisms of IH. PMID:26654173

  17. Infantile Nosocomial Myiasis in Iran

    PubMed Central

    Maleki Ravasan, Naseh; Shayeghi, Mansoureh; Najibi, Babak; Oshaghi, Mohammad Ali

    2012-01-01

    Myiasis, the invasion of live human tissue by larva of Diptera, is reported in the nasal cavity of a 5.5-year-old Iranian girl. She was referred from Golestan Province to the Shaheed Rajaei Heart Center in Tehran. In the 41th day after admission, a live parasite was found in her nasal secretions suction identified presumably as a second instar larvae of a facultative myiasis, Woholfartia nuba (Diptera: Sarcophagidae), on the basis of mtDNA-COI and morphological characteristics. Since presence of the larva was recorded after hospitalization, by definition, this infestation is considered a nosocomial myiasis. PMID:23378974

  18. The Psychoanalysis of Infantile Autism

    ERIC Educational Resources Information Center

    Houzel, Didier

    2004-01-01

    Starting from Frances Tustin's description of failure of the containing function in autistic children due to a splitting between the masculine and feminine aspects of the containing object, the author suggests that the first stage in the psychoanalytic treatment of an autistic child consists in restoring that function by working through what he…

  19. [Attention deficit and infantile hyperactivity].

    PubMed

    Berdonces, J L

    2001-01-01

    Hyperactivity is a very common disorder in children (specially males) that today is considered as a clinical syndrome by scientific medicine. American Psychiatric Association establishes 10 symptoms to diagnose it, but they can be resumed in three characteristics: Impulsivity, Distraction, and Hyperactivity. There are different ways to treat it, but psychiatric medication has major risks in children. From complementary medicine we can find several aids in changing diet patterns and supplementing with vitamins or minerals. Chocolate, sugar, sweeteners, additives, preservatives, dyes, can enhance the incidence of this syndrome; instead the supplementation with lipids rich in PUFA's can prevent it. B complex vitamins, magnesium, copper, manganese or calcium can be interesting and in herbal medicine, sedative plants like passion flower, valerian or lemon balm are useful aids. Also liquorice, fennel and berries can be used for different physiological actions.

  20. Infantile Frey’s Syndrome

    PubMed Central

    Tillman, Brittny N.; Lesperance, Marci M.; Brinkmeier, Jennifer V.

    2015-01-01

    Summary Frey’s syndrome in children is rare and often erroneously attributed to food allergy. Here we describe a case of Frey’s syndrome in an infant and provide a review of the literature. Awareness of this condition is important for the Otolaryngologist in order to avoid unnecessary medical costs and procedures and provide reassurance to both parents and primary care providers in the setting of this benign condition. PMID:25908408

  1. Infantile nosocomial myiasis in iran.

    PubMed

    Maleki Ravasan, Naseh; Shayeghi, Mansoureh; Najibi, Babak; Oshaghi, Mohammad Ali

    2012-12-01

    Myiasis, the invasion of live human tissue by larva of Diptera, is reported in the nasal cavity of a 5.5-year-old Iranian girl. She was referred from Golestan Province to the Shaheed Rajaei Heart Center in Tehran. In the 41th day after admission, a live parasite was found in her nasal secretions suction identified presumably as a second instar larvae of a facultative myiasis, Woholfartia nuba (Diptera: Sarcophagidae), on the basis of mtDNA-COI and morphological characteristics. Since presence of the larva was recorded after hospitalization, by definition, this infestation is considered a nosocomial myiasis. PMID:23378974

  2. Avidity of IgG for rubella: an evaluation of the need for implementation at the Materno-Infantil Presidente Vargas Hospital in Porto Alegre, Rio Grande do Sul, Brazil.

    PubMed

    Reis, M M; Tessaro, M M; Cruz e Silva, J; Giordano, S A; d'Azevedo, P A

    2004-06-01

    Rubella serum assays performed in the laboratory of the Materno-Infantil Presidente Vargas Hospital (HMIPV) from 1998 to 2002 were reviewed to determine if IgG avidity assays should be implemented. IgG was determined using the Enzyme Linked Fluorescent Assay, ELFA, VIDAS system, bioMerieux or the Microparticle Enzyme Immunoassay, MEIA, Axsym system, Abbott, and IgM was determined using the ELFA, VIDAS system, bioMerieux, a capture format assay. Specific IgG was assayed in 2,863 samples, with positive results for 84% of the patients, for the most part with high levels of antibodies. IgM was assayed in 2,851 samples, being positive in 14 (0.49%) and inconclusive in 25 (0.88%). Serology for toxoplasmosis was also positive or inconclusive in 5 patients. After a cost-effectiveness analysis, it was decided not to implement avidity assays, considering that the HMIPV is a public institution, with limited funding. Difficulties concerning the integration of the Clinical Pathology Service with the Clinical Staff of the institution were also considered.

  3. Utilization of matrix-assisted laser desorption and ionization time-of-flight mass spectrometry for identification of infantile seborrheic dermatitis-causing Malassezia and incidence of culture-based cutaneous Malassezia microbiota of 1-month-old infants.

    PubMed

    Yamamoto, Mikachi; Umeda, Yoshiko; Yo, Ayaka; Yamaura, Mariko; Makimura, Koichi

    2014-02-01

    Matrix-assisted laser desorption and ionization time-of-flight mass spectrometry (MALDI-TOF-MS) has been utilized for identification of various microorganisms. Malassezia species, including Malassezia restricta, which is associated with seborrheic dermatitis, has been difficult to identify by traditional means. This study was performed to develop a system for identification of Malassezia species with MALDI-TOF-MS and to investigate the incidence and variety of cutaneous Malassezia microbiota of 1-month-old infants using this technique. A Malassezia species-specific MALDI-TOF-MS database was developed from eight standard strains, and the availability of this system was assessed using 54 clinical strains isolated from the skin of 1-month-old infants. Clinical isolates were cultured initially on CHROMagar Malassezia growth medium, and the 28S ribosomal DNA (D1/D2) sequence was analyzed for confirmatory identification. Using this database, we detected and analyzed Malassezia species in 68% and 44% of infants with and without infantile seborrheic dermatitis, respectively. The results of MALDI-TOF-MS analysis were consistent with those of rDNA sequencing identification (100% accuracy rate). To our knowledge, this is the first report of a MALDI-TOF-MS database for major skin pathogenic Malassezia species. This system is an easy, rapid and reliable method for identification of Malassezia. PMID:24387229

  4. Efectos combinados de la ampliación de la atención primaria de salud y de las transferencias condicionadas de dinero en efectivo sobre la mortalidad infantil en Brasil, 1998–2010*

    PubMed Central

    Guanais, Frederico C.

    2015-01-01

    Objetivos. Examiné los efectos combinados del acceso a la atención primaria mediante el Programa de Salud Familiar (PSF) y las transferencias condicionadas de dinero en efectivo del Programa Bolsa Familia (PBF) sobre la mortalidad infantil posneonatal (MIPN) en Brasil. Métodos. Empleé un análisis ecológico longitudinal usando datos en panel de 4 583 municipios brasileños de 1998 al 2010, con 54 253 observaciones en total. Estimé modelos de regresión de efectos fijos por mínimos cuadrados ordinarios, con la tasa de MIPN como la variable dependiente y el PSF, el PBF y sus interacciones como las principales variables independientes de interés. Resultados. La asociación de una mayor cobertura del PSF con una menor tasa de MIPN se volvió más fuerte conforme aumentaba la cobertura del PBF. En los promedios de todas las demás variables, cuando la cobertura de PBF era 25%, la MIPN predicha fue 5,24 (intervalo de confianza [IC] de 95% = 4,95, 5,53) para una cobertura del PSF de 0%, y de 3,54 (IC de 95% = 2,77, 4,31) para una cobertura del PSF de 100%. Cuando la cobertura del PBF era de 60%, la MIPN predicha fue 4,65 (IC de 95% = 4,36, 4,94) para una cobertura del PSF de 0%, y de 1,38 (IC de 95% = 0,88, 1,89) para una cobertura del PSF de 100%. Conclusiones. El efecto del PSF depende de la ampliación del PBF. Para las poblaciones empobrecidas y subatendidas, la combinación de intervenciones tanto del lado de la oferta como del lado de la demanda podría ser necesaria para mejorar los resultados en salud.

  5. Mitochondria from a mouse model of the human infantile neuroaxonal dystrophy (INAD) with genetic defects in VIA iPLA2 have disturbed Ca(2+) regulation with reduction in Ca(2+) capacity.

    PubMed

    Strokin, Mikhail; Reiser, Georg

    2016-10-01

    Mutations in the PLA2G6 gene which encodes Ca(2+)-independent phospholipase A2 (VIA iPLA2) were detected in 85% of cases of the inherited degenerative nervous system disorder INAD (infantile neuroaxonal dystrophy, OMIM #256600). However, molecular mechanisms linking these mutations to the disease progression are unclear. VIA iPLA2 is expressed also in mitochondria. Here, we investigate Ca(2+) handling by brain mitochondria derived from mice with hypomorph Pla2g6 allele. These animals with reduced transcript levels (5% of wild type) represent a suitable model for INAD. We demonstrated significant reduction of Ca(2+) uptake rate and Ca(2+) retention capacity in brain mitochondria isolated from this mutant. This phenotype could be mimicked when in wild-type controls VIA iPLA2 was inhibited by S-BEL. Importantly, the reduction could be ameliorated partly by addition of the VIA iPLA2 product, sn-2 lysophosphatidyl-choline. Furthermore, we demonstrated in situ a reduced mitochondrial potential in neurons from mice deficient in VIA iPLA2, which could cause the reduced Ca(2+) uptake rate via the potential-dependent mitochondrial Ca(2+) uniporter. Thus, the disturbances in mitochondrial potential and the changes in Ca(2+) handling were dependent on VIA iPLA2 activity. Reduced mitochondrial Ca(2+) uptake rate and Ca(2+) retention capacity might result in increased vulnerability of mitochondria to the Ca(2+) overload and in disturbed cellular Ca(2+) signaling during INAD. For VIA iPLA2, non-canonical functions beyond sole phospholipid turnover seem to be important, such as regulation of store-operated Ca(2+) entry in cells. Thus, our findings bring new insight into molecular mechanism affected in INAD and highlight the non-canonical function of VIA iPLA2 in regulation of mitochondrial Ca(2+) handling.

  6. Prophylactic use of probiotics ameliorates infantile colic

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Colic is a common but distressing condition in young infants. We were asked to comment on a recently published study which found that a certain type of probiotic ("good bacteria") could be used to treat colic....

  7. Transient infantile hyperthyrotropinaemia. Report of a case.

    PubMed Central

    Miyai, K; Amino, N; Nishi, K; Fujie, T; Nakatani, K; Nose, O; Harada, T; Yabuuchi, H; Doi, K; Yamamoto, T; Satake, R; Tsuruhara, T; Oura, T

    1979-01-01

    A case of transient hyperthyrotropinaemia was found by mass screening for neonatal hypothyroidism using the paired TSH assay method. The patient was a baby boy born at term after a normal pregnancy who grew without any abnormal signs or symptoms. For the first 7 months after birth, his serum TSH was abnormally high while his total serum T4, T3, and free T4, T3 were within normal limits, exept for slightly low free T4 level at 7 months. The raised serum TSH decreased spontaneously to within normal limits after he was 9 months old. PMID:533303

  8. Genetics Home Reference: infantile neuroaxonal dystrophy

    MedlinePlus

    ... These disorders, as well as the more common Alzheimer disease and Parkinson disease , also are associated with ... to have mutations in the PLA2G6 gene. The genetic cause of the condition in these cases is ...

  9. The Few, the Proud, the Infantilized

    ERIC Educational Resources Information Center

    Fleming, Bruce

    2012-01-01

    The U.S. military-service academies--at West Point (Army), Annapolis (Navy), Colorado Springs (Air Force), and New London (Coast Guard)--are at the center of several debates, both military and civilian. The military is downsizing, and the federal budget is under scrutiny: Do the academies deserve to continue if they are not producing better…

  10. Desmoplastic non-infantile ganglioglioma. Case report.

    PubMed

    Marti, A; Almostarchid, B; Maher, M; Saidi, A

    2000-09-01

    Desmoplastic gangliogliomas are rare mixed glial and neuronal cerebral tumors, especially described in infants below 4 years of age but exceptional cases have been reported in young adults. These tumors are generally localised in parietal or temporal lobes, present as a large cystic lesion with peripheral contrast enhancement. They also have characteristic histological features: extensive desmoplasia and tumoral cells of variable size exhibiting immunohistochemical and ultrastructural features of glial and neuronal differentiation. Total surgical removal is sufficient for the treatment of these tumors and no radiotherapy or chemotherapy are indicated if complete resection is achieved. We report a case of desmoplastic ganglioglioma in a 19-year-old male. This tumor presented as a large parieto- temporal cystic lesion with rimmed contrast enhancement. At histological examination, this tumor exhibited extensive desmoplasia and comprised 2 types of tumoral cells: small cells with round nuclei, positive for NSE, neurofilaments and synaptophysin and sometimes presenting typical morphological features of neuronal differentiation, and large cells with abundant eosinophilic strongly staining for GFAP. This observation emphazises on the fact that desmoplastic ganglioglioma can no more be considered as a specific entity of infancy and must be well recognised even in young adults because it may be misdiagnosed as malignant glioma.

  11. Honey in the treatment of infantile gastroenteritis.

    PubMed

    Haffejee, I E; Moosa, A

    1985-06-22

    A clinical study was undertaken using honey in oral rehydration solution in infants and children with gastroenteritis. The aim was to evaluate the influence of honey on the duration of acute diarrhoea and its value as a glucose substitute in oral rehydration. The results showed that honey shortens the duration of bacterial diarrhoea, does not prolong the duration of non-bacterial diarrhoea, and may safely be used as a substitute for glucose in an oral rehydration solution containing electrolytes. The correct dilution of honey, as well as the presence of electrolytes in the oral rehydration solution, however, must be maintained.

  12. Infantile generalized hypertrichosis caused by topical minoxidil.

    PubMed

    Rampon, Greice; Henkin, Caroline; de Souza, Paulo Ricardo Martins; Almeida, Hiram Larangeira de

    2016-01-01

    Rare cases of hypertrichosis have been associated with topically applied minoxidil. We present the first reported case in the Brazilian literature of generalized hypertrichosis affecting a 5-year-old child, following use of minoxidil 5%, 20 drops a day, for hair loss. The laboratory investigation excluded hyperandrogenism and thyroid dysfunction. Topical minoxidil should be used with caution in children. PMID:26982785

  13. Infantile generalized hypertrichosis caused by topical minoxidil*

    PubMed Central

    Rampon, Greice; Henkin, Caroline; de Souza, Paulo Ricardo Martins; de Almeida Jr, Hiram Larangeira

    2016-01-01

    Rare cases of hypertrichosis have been associated with topically applied minoxidil. We present the first reported case in the Brazilian literature of generalized hypertrichosis affecting a 5-year-old child, following use of minoxidil 5%, 20 drops a day, for hair loss. The laboratory investigation excluded hyperandrogenism and thyroid dysfunction. Topical minoxidil should be used with caution in children. PMID:26982785

  14. [A Case of Infantile Cervical Ectopic Thymus].

    PubMed

    Umehara, Tsuyoshi; Hakamada, Katsura; Oshima, Goro; Suzuki, Katsuyoshi; Iwanaga, Ken; Yamaguchi, Yuki; Arai, Hiroyuki; Hikida, Yumiko; Kita, Junya; Hayashi, Yasuhiro

    2015-05-01

    We report herein on a case of ectopic cervical thymus in a 5-year-old boy and the literature is reviewed. Swelling of the right neck was seen in the patient in his newborn period and it was diagnosed as cystic disease of the neck in a previous hospital at 4 months of age. Ultrasonography (US) and MRI revealed a cervical tumor consisting of a solid component in our hospital, and histopathologic examination showed no evidence of malignancy. The lesion revealed almost no change in size but showed a mosaic pattern on US, whereon the parents agreed to the removal of the tumor. Intraoperatively, the tumor could be easily dissected from the surrounding tissue and resected. The pathological diagnosis was normal thymic tissue. The postoperative course was uneventful and no complication or immunological disorders were seen. A cervical ectopic thymus is a congenital lesion that results from abnormal thymic migration during embryogenesis. Most patients are asymptomatic and the condition is found incidentally. Preoperative diagnosis of cervical ectopic thymus in children is rarely made, so surgical treatment is the definitive means of pathological diagnosis. This disease should be listed in the differential diagnosis for neck masses in children, and should be suspected when the mosaic pattern is detected in the lesion on US.

  15. Computed tomography of infantile hepatic hemangioendothelioma

    SciTech Connect

    Lucaya, J.; Enriquez, G.; Amat, L.; Gonzalez-Rivero, M.A.

    1985-04-01

    Computed tomography (CT) was performed on five infants with hepatic hemangioendothelioma. Precontrast scans showed solitary or multiple, homogeneous, circumscribed areas with reduced attenuation values. Tiny tumoral calcifications were identified in two patients. Serial scans, after injection of a bolus of contrast material, showed early massive enhancement, which was either diffuse or peripheral. On delayed scans, multinocular tumors became isodense with surrounding liver, while all solitary ones showed varied degrees of centripetal enhancement and persistent central cleftlike unenhanced areas. The authors believe that these CT features are characteristic and obviate arteriographic confirmation.

  16. Hereditary Pituitary Hyperplasia with Infantile Gigantism

    PubMed Central

    Gläsker, Sven; Vortmeyer, Alexander O.; Lafferty, Antony R. A.; Hofman, Paul L.; Li, Jie; Weil, Robert J.; Zhuang, Zhengping

    2011-01-01

    Context: We report hereditary pituitary hyperplasia. Objective: The objective of the study was to describe the results of the clinical and laboratory analysis of this rare instance of hereditary pituitary hyperplasia. Design: The study is a retrospective analysis of three cases from one family. Setting: The study was conducted at the National Institutes of Health, a tertiary referral center. Patients: A mother and both her sons had very early-onset gigantism associated with high levels of serum GH and prolactin. Interventions: The condition was treated by total hypophysectomy. Main Outcome Measure(s): We performed clinical, pathological, and molecular evaluations, including evaluation basal and provocative endocrine testing, neuroradiological assessment, and assessment of the pituitary tissue by microscopic evaluation, immunohistochemistry, and electron microscopy. Results: All three family members had very early onset of gigantism associated with abnormally high serum levels of GH and prolactin. Serum GHRH levels were not elevated in either of the boys. The clinical, radiographic, surgical, and histological findings indicated mammosomatotroph hyperplasia. The pituitary gland of both boys revealed diffuse mammosomatotroph hyperplasia of the entire pituitary gland without evidence of adenoma. Prolactin and GH were secreted by the same cells within the same secretory granules. Western blot and immunohistochemistry demonstrated expression of GHRH in clusters of cells distributed throughout the hyperplastic pituitary of both boys. Conclusions: This hereditary condition seems to be a result of embryonic pituitary maldevelopment with retention and expansion of the mammosomatotrophs. The findings suggest that it is caused by paracrine or autocrine pituitary GHRH secretion during pituitary development. PMID:21976722

  17. Genetics Home Reference: infantile neuronal ceroid lipofuscinosis

    MedlinePlus

    ... Batten Disease Foundation CLIMB: Children Living with Inherited Metabolic Diseases ... Sources for This Page Getty AL, Pearce DA. Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function. Cell ...

  18. [Etiology of acute infantile gastroenteritis in Gabon].

    PubMed

    Gendrel, D; Sitbon, M; Richard-Lenoble, D; Galliot, A; Kombila, M; Ivanoff, B; Nardou, M; Gendrel, C; Kani, F

    1985-01-01

    Rotaviruses are the main etiology of acute diarrhoeas in gabonese children (11 to 30% according to age). Salmonellae (11.4%), Shigellae (7.1%) and E. histolytica (7.1%), isolated or associated with enterobacteria, E. coli (3%), Giardia and Strongyloides stercoralis (1.4%), Yersinia enterocolitica (1%) and Balantidium coli (0.5%) were also found, without cholera. PMID:2863005

  19. Infantile amnesia: forgotten but not gone

    PubMed Central

    Li, Stella; Callaghan, Bridget L.; Richardson, Rick

    2014-01-01

    Unlike adult memories that can be remembered for many years, memories that are formed early in life are more fragile and susceptible to being forgotten (a phenomenon known as “infantile” or “childhood” amnesia). Nonetheless, decades of research in both humans and nonhuman animals demonstrate the importance of early life experiences on later physical, mental, and emotional functioning. This raises the question of how early memories can be so influential if they cannot be recalled. This review presents one potential solution to this paradox by considering what happens to an early memory after it has been forgotten. Specifically, we describe evidence showing that these forgotten early-acquired memories have not permanently decayed from storage. Instead, there appears to be a memory “trace” that persists in the face of forgetting which continues to affect a variety of behavioral responses later in life. Excitingly, the discovery of this physical trace will allow us to explore previously untestable issues in new ways, from whether forgetting is due to a failure in retrieval or storage to how memories can be recovered after extended periods of time. A greater understanding of the characteristics of this memory trace will provide novel insights into how some memories are left behind in childhood while others are carried with us, at least in some form, for a lifetime. PMID:24532837

  20. [National consensus on the ketogenic diet].

    PubMed

    Armeno, Marisa; Caraballo, Roberto; Vaccarezza, María; Alberti, M Julia; Ríos, Viviana; Galicchio, Santiago; de Grandis, Elizabeth S; Mestre, Graciela; Escobal, Nidia; Matarrese, Pablo; Viollaz, Rocío; Agostinho, Ariela; Díez, Cecilia; Cresta, Araceli; Cabrera, Analía; Blanco, Virginia; Ferrero, Hilario; Gambarini, Victoria; Sosa, Patricia; Bouquet, Cecilia; Caramuta, Luciana; Guisande, Silvina; Gamboni, Beatriz; Hassan, Amal; Pesce, Laura; Argumedo, Laura; Dlugoszewski, Corina; DeMartini, Martha G; Panico, Luis

    2014-09-01

    Introduccion. La epilepsia es una enfermedad cronica que afecta al 0,5-1% de la poblacion, mayormente de inicio durante la infancia. Un tercio de los pacientes evoluciona hacia una forma refractaria al tratamiento con farmacos antiepilepticos, lo que plantea al equipo de salud un desafio terapeutico. La dieta cetogenica (DC) es un tratamiento no farmacologico efectivo utilizado como un metodo alternativo para el tratamiento de la epilepsia refractaria. Objetivos. Es necesario establecer directrices para utilizar la DC adecuadamente y asi expandir su conocimiento y utilizacion en paises hispanoparlantes. El Comite Nacional de Dieta Cetogenica, dependiente de la Sociedad Argentina de Neurologia Infantil, elaboro este consenso para estandarizar el uso de la DC basandose en la bibliografia publicada y la experiencia clinica. El grupo esta formado por neuropediatras, medicos nutricionistas y licenciadas en nutricion de cinco provincias de Argentina pertenecientes a 10 centros que aplican la DC como tratamiento de la epilepsia refractaria. Desarrollo. Se exponen temas tales como la seleccion del paciente, el asesoramiento a la familia antes del tratamiento, las interacciones de la DC con la medicacion anticonvulsionante, los suplementos, el control de efectos adversos y la retirada de dicha dieta. Conclusiones. La DC es un tratamiento util para los pacientes pediatricos con epilepsia intratable. Es fundamental la educacion y colaboracion del paciente y la familia. El tratamiento debe llevarlo a cabo un equipo interdisciplinar experimentado, siguiendo un protocolo. La formacion de un grupo nacional interdisciplinar, y la publicacion de este consenso, ofrece la posibilidad de orientar a nuevos centros en su implantacion.

  1. [Autism spectrum disorder and epilepsy: the role of ketogenic diet].

    PubMed

    Garcia-Penas, J J

    2016-01-01

    Introduccion. Un 5-40% de los pacientes autistas desarrolla epilepsia. Aunque generalmente se controlan bien con medicacion, hasta un 20-30% de estas epilepsias son refractarias al tratamiento farmacologico. En esta poblacion, la dieta cetogenica (DC) puede ser una terapia alternativa altamente eficaz y debe considerarse seriamente. Objetivo. Revisar el papel de la DC en el tratamiento de la epilepsia infantil refractaria y en los pacientes que asocian autismo y epilepsia. Desarrollo. La DC es un tratamiento eficaz y bien tolerado para las epilepsias infantiles refractarias, incluyendo los pacientes que asocian autismo y epilepsia. Es fundamental caracterizar de forma precisa el sindrome epileptico para conocer cuales son los mejores candidatos para tratar con DC. Por otra parte, el efecto positivo de la DC sobre las alteraciones del metabolismo oxidativo mitocondrial y la evidencia experimental obtenida con DC en animales autistas sugieren que pueda ser una alternativa eficaz en los pacientes con autismo. Conclusiones. Basandose en la utilidad demostrada de la DC en el tratamiento de pacientes con epilepsia y autismo, esta terapia se ha usado en los ultimos años como una terapia alternativa para los pacientes autistas, aunque se desconoce cual es su eficacia real. Es necesario realizar un estudio aleatorizado y controlado para definir el perfil de eficacia y seguridad en esta poblacion.

  2. Como Lo Hago Yo: Tratamiento Quirurgico Del Mielomeningocele

    PubMed Central

    Portillo, Santiago

    2014-01-01

    En Argentina hay plan de fortificación con ácido fólico. Diagnostico prenatal no siempre es correcto. Cierre según técnica. Cerramos músculo. No favorecemos corpectomía temprana en casos de cifosis. Suturamos la plaqueta. Cerramos el plano muscular. Hidrocefalia: Válvula de derivación, generalmente dentro de los dos primeros meses. Ventriculostomía no está indicada. Chiari II. Laminectomia cervical alta. Siringomielia: Derivación desde la cavidad al peritoneo. PMID:24791219

  3. Cancionero Infantil - con Rimitos. (Infant Songs.) (Children Stories - with Rhymes.)

    ERIC Educational Resources Information Center

    Lucero, Stanley A.; And Others

    In learning a second language, children need periodic exposure to more than they can identify word for word. Also they need to grasp oral "chunks" or phrases of the language, rather than single words, in order to achieve a native rhythm and pronunciation in their speech. And, thirdly, they need practice through constant exposure and repetition.…

  4. Five probiotic drops a day to keep infantile colic away?

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Colic is a common but distressing condition in young infants. We were asked to comment on a recently published study which found that a certain type of probiotic ("good bacteria") could be used to treat colic....

  5. Arthrogryposis wrist deformities: results of infantile serial casting.

    PubMed

    Smith, Dean W; Drennan, James C

    2002-01-01

    Arthrogryposis multiplex congenita involving the upper extremity can be associated with significant contractures of major joints. Treatment options to maximize upper extremity motion and function include passive joint stretching, serial casting, or surgical intervention. This study reviewed all patients at Carrie Tingley Hospital with arthrogrypotic wrist flexion contractures treated with passive stretching, serial casting, and custom wrist orthotics to determine the effect on wrist position and function. Seventeen infant patients with distal and classic arthrogryposis used this regimen. Average follow-up was 6 years. The greatest gain in wrist motion occurred after the first casting session for both groups. Patients with distal arthrogryposis had the largest improvement in passive wrist motion, were more functionally independent at final follow-up, and had no recurrence of deformity. Patients with classic arthrogryposis had rigid wrist flexion contractures and a 75% incidence of deformity recurrence after casting. At final follow-up, these patients remained functionally dependent, requiring >50% assistance with activities of daily living, and had less improvement in wrist motion. The authors recommend early casting of infant wrist deformities for both forms of arthrogryposis. If the wrist deformity recurs, repeat serial casting is unlikely to improve wrist extension. Other treatment options may be considered in the older child.

  6. Secondhand smoke exposure during pregnancy and infantile neurodevelopment.

    PubMed

    Lee, Bo-Eun; Hong, Yun-Chul; Park, Hyesook; Ha, Mina; Kim, Ja Hyeong; Chang, Namsoo; Roh, Young-Man; Kim, Boong-Nyun; Kim, Yeni; Oh, Se-young; Kim, Young Ju; Ha, Eun-Hee

    2011-05-01

    During prenatal development, the nervous system may be more susceptible to environmental toxicants, such as secondhand smoke. The authors assessed the effects of prenatal and postnatal secondhand smoke exposure on the neurodevelopment of 6-month infants. The subjects were 414 mother and infant pairs with no medical problems, taken from the Mothers' and Children's Environmental Health study. Prenatal and postnatal exposures to secondhand smoke were determined using maternal self-reports. Examiners, unaware of exposure history, assessed the infants at 6 months of age using the Bayley Scales of Infant Development. Bayley scores were compared for secondhand smoke exposed and unexposed groups after adjusting for potential confounders. Multiple logistic regression analysis was carried out to estimate the risk of developmental delay posed by SHS exposure. The multivariate model included residential area, maternal age, pre-pregnancy body mass index, education, income, infant sex, parity, birth weight, and type of feeding. After adjusting for covariates, secondhand smoke exposure during pregnancy was found to be related to a decrease in mental developmental index score, but not to a decrease in psychomotor developmental index score. In addition, secondhand smoke exposure during pregnancy was found to increase the risk of developmental delay (mental developmental index score ≤85) at 6 months. This study suggests that the infants of non-smoking women exposed to secondhand smoke are at risk of neurodevelopmental delay.

  7. Infantile Accountability: When Big Data Meet Small Children

    ERIC Educational Resources Information Center

    Wrigley, Terry; Wormwell, Louise

    2016-01-01

    This article examines a government attempt to impose testing of 4-year-olds as a baseline against which to "hold primary schools accountable" for children's subsequent progress. It examines the various forms of baseline testing in this experiment and analyses the misleading claims made for the "predictive validity" of baseline…

  8. Materno-infantilism, feminism and maternal health policy in Brazil.

    PubMed

    Diniz, Simone

    2012-06-01

    In the last days of 2011, President of Brazil Dilma Rousseff issued a provisional measure (or draft law) entitled "National Surveillance and Monitoring Registration System for the Prevention of Maternal Mortality" (MP 557), as part of a new maternal health programme. It was supposed to address the pressing issue of maternal morbidity and mortality in Brazil, but instead it caused an explosive controversy because it used terms such as nascituro (unborn child) and proposed the compulsory registration of every pregnancy. After intense protests by feminist and human rights groups that this law was unconstitutional, violated women's right to privacy and threatened our already limited reproductive rights, the measure was revised in January 2012, omitting "the unborn child" but not the mandatory registration of pregnancy. Unfortunately, neither version of the draft law addresses the two main problems with maternal health in Brazil: the over-medicalisation of childbirth and its adverse effects, and the need for safe, legal abortion. The content of this measure itself reflects the conflictive nature of public policies on reproductive health in Brazil and how they are shaped by close links between different levels of government and political parties, and religious and professional sectors. PMID:22789090

  9. Infantile spasms: review of the literature and personal experience

    PubMed Central

    2010-01-01

    This epileptic disorder has become a classic topic for neuropediatricians and the interest is documented by the large number of publications on this subject. The relative frequency among the epileptic syndromes is an another reason why not only neuropediatricians but also general pediatricians must be fully informed about diagnostic, clinical, imaging and genetic aspects. Early diagnosis is of paramount importance in order to obtain even complete results in patients with so called idiopathic situations. A number of problems are still to be solved. There is no agreement on the type and the schedule of treatment. A common denominator about this problem is not jet available even if some advances in this regard have been accomplished. Of paramount importance is an accurate clinical and laboratory examination as a prerequisite regarding prognosis and results of therapy in every single case. However, even if more than 170 years have elapsed since the first communication of dr. West on the peculiar syndrome that his child was suffering of, the interest of scientists on this subject has now been enriched and rewarded. PMID:20181122

  10. Infantile hemangioma: pulsed dye laser versus surgical therapy

    NASA Astrophysics Data System (ADS)

    Remlova, E.; Dostalova, T.; Michalusova, I.; Vranova, J.; Jelinkova, H.; Hubacek, M.

    2014-05-01

    Hemangioma is a mesenchymal benign tumor formed by blood vessels. Anomalies affect up to 10% of children and they are more common in females than in males. The aim of our study was to compare the treatment efficacy, namely the curative effect and adverse events, such as loss of pigment and appearance of scarring, between classical surgery techniques and laser techniques. For that reason a group of 223 patients with hemangioma was retrospectively reviewed. For treatment, a pulsed dye laser (PDL) (Rhodamine G, wavelength 595 nm, pulsewidth between 0.45 and 40 ms, spot diameter 7 mm, energy density 9-11 J cm-2) was used and the results were compared with a control group treated with classical surgical therapy under general anesthesia. The curative effects, mainly number of sessions, appearance of scars, loss of pigment, and relapses were evaluated as a marker of successful treatment. From the results it was evident that the therapeutic effects of both systems are similar. The PDL was successful in all cases. The surgery patients had four relapses. Classical surgery is directly connected with the presence of scars, but the system is safe for larger hemangiomas. It was confirmed that the PDL had the optimal curative effect without scars for small lesions (approximately 10 mm). Surgical treatment under general anesthesia is better for large hemangiomas; the disadvantage is the presence of scars.

  11. Current Approaches to the Understanding of Early Infantile Autism.

    ERIC Educational Resources Information Center

    Rickman, David L.

    This review of the literature provides summaries of the genetic, neurophysiological, and biochemical approaches to understanding autism, with special reference to neuroanatomic, cognitive, and neuropsychological studies of this disorder. Available instruments for the assessment of autism and various treatment alternatives including drug therapy,…

  12. Prevalence of infantile autism in four French regions.

    PubMed

    Fombonne, E; du Mazaubrun, C

    1992-08-01

    A survey conducted in four French regions identified a sample of 154 autistic children born in the birth cohorts 1972 and 1976. Their mean ages were respectively 6.9 and 5.5 years when their handicaps were registered to local administrative services. The overall prevalence estimate is 4.9/10,000, with little difference between the two cohorts. The boy/girl sex ratio is 2.1:1, and more than two thirds are mentally retarded. The SES distribution does not deviate from census data. An elevated incidence of epilepsy is found (22%), with higher rates among the most retarded subjects and those with perinatal antecedents. Otherwise, relatively few autistic subjects were reported to have a clearcut medical disorder known for its association with autism.

  13. Infantile intracranial aneurysm of the superior cerebellar artery.

    PubMed

    Del Santo, Molly Ann; Cordina, Steve Mario

    2016-01-01

    Intracranial aneurysms in the pediatric population are rare. We report a case of a 3-month-old infant who presented with inconsolable crying, vomiting, and sunset eye sign. CT revealed a subarachnoid hemorrhage, with CT angiogram revealing a superior cerebellar artery aneurysm. An external ventricular drain was placed for acute management of hydrocephalus, with definitive treatment by endovascular technique with a total of six microcoils to embolize the aneurysm. Serial transcranial Dopplers revealed no subsequent vasospasm. Although aneurysms in the pediatric population are rare, once the diagnosis is established, early treatment results in better outcomes. PMID:26929222

  14. Delayed Language Development Due to Infantile Thiamine Deficiency

    ERIC Educational Resources Information Center

    Fattal-Valevski, Aviva; Azouri-Fattal, Iris; Greenstein, Yoram J.; Guindy, Michal; Blau, Ayala; Zelnik, Nathanel

    2009-01-01

    The aim of this study was to investigate the language development of 20 children who had been exposed to thiamine (vitamin B[subscript 1]) deficiency in infancy due to feeding with soy-based formula that was accidentally deficient of thiamine. In this case-control study, 20 children (12 males, eight females; mean age 31.8 mo [SD 4.1], range 24-39…

  15. Tuberous sclerosis as an underlying basis for infantile spasm.

    PubMed

    Yeung, Raymond S

    2002-01-01

    The study of the molecular pathogenesis of epilepsy in tuberous sclerosis has taken on a new dimension with the identification of the TSC1 and TSC2 genes. While the development of seizures is ultimately related to mutations in one of the two genes, the mechanism underlying the genotype-phenotype relationship remains a puzzle. This chapter, presented arguments in favor of the hypothesis that abnormal cortical excitability originates in and around focal areas of structural malformations (i.e., cortical tubers and dysplasia) and that these "lesions" are the biologic consequences of tuberin and/or hamartin dysfunction. This model relies on the concept of a multistep process occurring early in cortical development whereby certain progenitor cells in the germinal layer of the ventricular zone destined for the cortex undergo inactivation of the TSC1 or TSC2 locus (Fig. 2). Immature neuroepithelial cells carrying "two-hit" mutations at either locus are believed to proliferate, migrate, and differentiate abnormally, resulting in the formation of "dysplastic" cells that are heterotopic in distribution. The pathology of the classic tuber suggests a clonal expansion of the bizarre-appearing giant cells that display incomplete, multilineage, and often ambiguous phenotype. Further, they infiltrate the six-layered structure of the cortex to form a poorly circumscribed area containing a mixture of cell types to create a highly disorganized region of a neuronal and glial network. Whether arising from the dysplastic "two-hit" target cells themselves or adjacent "innocent" bystander neurons as a result of aberrant cell-cell interaction, abnormal epileptic discharges originate from these structural abnormalities. The mechanism of how TSC1 and TSC2 inactivation causes tuber to develop is not known, but emerging experimental evidence suggests a disruption of the hamartin-tuberin "haloenzyme" in the regulation of cell size and number via the insulin signaling pathway and a p27/CDK-dependent mechanism. Biochemically, TSC1/TSC2 may associate with cytoskeletal components and vesicular adaptors in regulating sorting and trafficking of newly synthesized and recycling proteins in the post-Golgi compartments. As such, spatial and temporal localization of proteins may be affected in tuberin or hamartin-deficient neuronal cells where proper synaptic delivery of neurotransmitters plays an important role in normal cerebral function. We are in the earliest stages of understanding the role of TSC genes in epileptogenesis. To test the hypothesis outlined earlier, there is a need to create in vitro and in vivo models, as direct human experimentation is not feasible. To date, there are several rodent models of TSC, both spontaneous and recombinant strains. Unfortunately, none has consistently developed spontaneous cortical tubers, although one example was reported in an otherwise asymptomatic Eker rat (Mizuguchi et al., 2000). If the "two-hit" hypothesis is operational in tubers, as seen in other TSC lesions, it follows that radiation and chemical carcinogens should have a quantitative and qualitative effect on the development of these cerebral malformations. In preliminary experiments, we have found evidence of areas of cortical dysplasia in Eker rats irradiated early in life (Fig. 3). These dysplastic [figure: see text] cells stained positively with NeuN, consistent with the immunophenotype of cells in tubers. Alternatively, one can analyze the in vivo and in vitro characteristics of neuroprogenitor cells that are deficient of hamartin or tuberin. While homozygous mutants of TSC1 and TSC2 are lethal during midgestation, one of several techniques can be used to derive mutant neuroepithelial cells, including the procurement of -/- cells prior to embryonic deaths and subsequent cortical transplantation into syngeneic animals, development of conditional "knock outs," or chimeric mutants. These approaches, with their unique advantages and disadvantages, will be helpful in gaining insights into the development of cortical tubers and their electrophysiologic consequences.

  16. Fibromatosis Colli - A Rare Cytological Diagnosis In Infantile Neck Swellings

    PubMed Central

    Jetley, Sujata; Jairajpuri, Zeeba; Husain, Musharraf

    2014-01-01

    Fibromatosis colli or sternocleidomastoid tumour is a rare cause of benign neck mass in infants. It is a self limiting fibroblastic lesion usually presenting with torticollis and a history of birth trauma.It is one of the few causes in which Fine Needle Aspiration Cytology (FNAC) is indicated in a neonate to confirm the diagnosis and to differentiate it from other congenital, inflammatory and neoplastic causes. FNAC provides a rapid, cost-effective, reliable, non invasive method of diagnosis resulting in conservative management of these lesions. We present two interesting cases of neck swelling in infants where FNAC performed as the first diagnostic procedure was instrumental in establishing the diagnosis of fibromatosis colli thus avoiding unnecessary surgical intervention. PMID:25584233

  17. Compulsive masturbation in infantile autism treated by mirtazapine.

    PubMed

    Albertini, Giorgio; Polito, Emilena; Sarà, Marco; Di Gennaro, Giancarlo; Onorati, Paolo

    2006-05-01

    This case report describes a child with a severe autistic syndrome worsened by hypersexual behavior consisting of compulsive masturbatory activity. Selective serotonin reuptake inhibitors have been reported to be beneficial in reducing hypersexual behaviors. A treatment with mirtazapine improved the entire clinical autistic picture with the disappearance of masturbation. This result suggests that selective serotonin reuptake inhibitors could be useful and promising tools in the treatment of hypersexual behaviors in children with autistic disorders. Moreover, the general, and in some ways unexpected, improvement of the social interaction, communication, and imagination, the dramatic reduction of aloof mannerisms, stereotypes, aggressiveness, and inappropriate emotional response to frustrations, as well as the first appearance of the pragmatic use of language and a strong impetus to emotional development disclosed a new spectrum of possible applications of these drugs, and mirtazapine in particular, suggesting the need for new and more extensive studies on the pharmacotherapy of autism.

  18. Investigating Memory Development in Children and Infantile Amnesia in Adults

    ERIC Educational Resources Information Center

    Kazemi Tari, Somayeh

    2008-01-01

    Although many researchers have worked on memory development, still little is known about what develops in memory development. When one reviews the literature about memory, she encounters many types of memories such as short term vs. long term memory, working memory, explicit vs. implicit memory, trans-saccadic memory, autobiographical memory,…

  19. Materno-infantilism, feminism and maternal health policy in Brazil.

    PubMed

    Diniz, Simone

    2012-06-01

    In the last days of 2011, President of Brazil Dilma Rousseff issued a provisional measure (or draft law) entitled "National Surveillance and Monitoring Registration System for the Prevention of Maternal Mortality" (MP 557), as part of a new maternal health programme. It was supposed to address the pressing issue of maternal morbidity and mortality in Brazil, but instead it caused an explosive controversy because it used terms such as nascituro (unborn child) and proposed the compulsory registration of every pregnancy. After intense protests by feminist and human rights groups that this law was unconstitutional, violated women's right to privacy and threatened our already limited reproductive rights, the measure was revised in January 2012, omitting "the unborn child" but not the mandatory registration of pregnancy. Unfortunately, neither version of the draft law addresses the two main problems with maternal health in Brazil: the over-medicalisation of childbirth and its adverse effects, and the need for safe, legal abortion. The content of this measure itself reflects the conflictive nature of public policies on reproductive health in Brazil and how they are shaped by close links between different levels of government and political parties, and religious and professional sectors.

  20. Cutaneous presentation of kwashiorkor due to infantile Crohn's disease.

    PubMed

    Al-Mubarak, Luluah; Al-Khenaizan, Sultan; Al Goufi, Talal

    2010-01-01

    Kwashiorkor is one of the severe forms of protein-energy malnutrition. Many characteristic dermatoses can be seen in children suffering from kwashiorkor, and some are pathognomonic. Here, we report an infant who presented with diarrhea and skin signs of kwashiorkor, and duodenal biopsy was consistent with Crohn's disease. The patient was treated with prednisolone administered orally in a tapering course plus azathioprine, in addition to nutritional supplementation. The general condition of the patient quickly improved and his skin lesions completely resolved within 2 weeks. Kwashiorkor is a serious potentially fatal disease that occurs less often in developed countries leading to low index of suspicion by physicians and pediatricians in those regions. Occasionally, dermatologists have the rare chance of alerting pediatricians to the diagnosis of kwashiorkor, thus making a difference in the care of this disease.

  1. Infantile intracranial aneurysm of the superior cerebellar artery.

    PubMed

    Del Santo, Molly Ann; Cordina, Steve Mario

    2016-02-29

    Intracranial aneurysms in the pediatric population are rare. We report a case of a 3-month-old infant who presented with inconsolable crying, vomiting, and sunset eye sign. CT revealed a subarachnoid hemorrhage, with CT angiogram revealing a superior cerebellar artery aneurysm. An external ventricular drain was placed for acute management of hydrocephalus, with definitive treatment by endovascular technique with a total of six microcoils to embolize the aneurysm. Serial transcranial Dopplers revealed no subsequent vasospasm. Although aneurysms in the pediatric population are rare, once the diagnosis is established, early treatment results in better outcomes.

  2. Atypical MR lenticular signal change in infantile isovaleric acidemia

    PubMed Central

    Wani, Nisar A; Qureshi, Umer Amin; Jehangir, Majid; Ahmad, Kaiser; Hussain, Zahid

    2016-01-01

    Isovaleric acidemia (IVA) is an inborn error of branched chain amino acid metabolism that may manifest as acute neonatal metabolic acidosis or as chronic intermittent form with developmental delay or recurrent episodes of acute metabolic acidosis. Early diagnosis is the key to prevent morbidity and mortality. Brain imaging abnormalities are rarely described in IVA. We report a case of chronic intermittent IVA with acute presentation in a 4-month-old infant who presented with acute metabolic acidosis. Brain magnetic resonance imaging (MRI) revealed symmetric signal intensity changes in bilateral lentiform nuclei with an unreported T1-weighted (T1W) symmetric hyperintense ring-like appearance in bilateral putamen. PMID:27081237

  3. Perinatal and early infantile symptoms in congenital disorders of glycosylation.

    PubMed

    Funke, Simone; Gardeitchik, Thatjana; Kouwenberg, Dorus; Mohamed, Miski; Wortmann, Saskia B; Korsch, Eckhard; Adamowicz, Maciej; Al-Gazali, Lihadh; Wevers, Ron A; Horvath, Adrienne; Lefeber, Dirk J; Morava, Eva

    2013-03-01

    Congenital disorders of glycosylation (CDG) are a rapidly growing family of inborn errors. Screening for CDG in suspected cases is usually performed in the first year of life by serum transferrin isoelectric focusing or mass spectrometry. Based on the transferrin analysis patients can be biochemically diagnosed with a type 1 or type 2 transferrin pattern, and labeled as CDG-I, or CDG-II. The diagnosis of CDG is frequently delayed due to the highly variable phenotype, some cases showing single organ involvement and others mimicking syndromes, like skeletal dysplasia, cutis laxa syndrome, or congenital muscle dystrophy. The aim of our study was to evaluate perinatal abnormalities and early discriminative symptoms in 58 patients consecutively diagnosed with diverse CDG-subtypes. Neonatal findings and clinical features in the first months of life were studied in 36 children with CDG-I and 22 with CDG-II. Maternal complications were found in five, small for gestational age in nine patients. Five children had abnormal neonatal screening results for hypothyroidism. Congenital microcephaly and neonatal seizures were common in CDG-II. Inverted nipples were uncommon with 5 out of 58 children. Dysmorphic features were mostly nonspecific, except for cutis laxa. Early complications included feeding problems, cardiomyopathy, thrombosis, and bleeding. Cases presenting in the neonatal period had the highest mortality rate. Survival in CDG patients is highly dependent on early intervention therapy. We recommend low threshold screening for glycosylation disorders in infants with neurologic symptoms, even in the absence of abnormal fat distribution. Growth retardation and neonatal bleeding increase suspicion for CDG. PMID:23401092

  4. [Infantile spondylolysis with spina bifida occulta in athletes].

    PubMed

    Kälicke, T; Frangen, T M; Seybold, D; Steuer, K; Arens, S

    2004-12-01

    Children with evidenced spondylolysis of the lumbar spine should not practice sport with axial compression strain forces or carry out hyperextensional or rotational movements exercises up to the age of eight to ten years, as this could lead to considerable shearing strain to the still cartilaginous disposition of the vertebral arch and therefore initiate an ossification with resulting incomplete closure of the bony elements of the spine (spina bifida occulta). The associated instability of the dorsal vertebral column may yield spondylolisthesis requiring surgical intervention. Competitive sport should be avoided if possible, or carried out in close collaboration with a coach and a physiotherapist under continuous medical supervision with regular radiological monitoring. PMID:15592984

  5. Genetics Home Reference: late-infantile neuronal ceroid lipofuscinosis

    MedlinePlus

    ... endoplasmic reticulum . The endoplasmic reticulum is involved in protein production, processing, and transport. Within these cell structures, the ... CLN8 , MFSD8 , or PPT1 gene usually reduce the production or activity of the particular protein or enzyme made from the gene. In many ...

  6. Genetics Home Reference: infantile-onset spinocerebellar ataxia

    MedlinePlus

    ... the normal function of these structures. The Twinkle protein is involved in the production and maintenance of mtDNA. The function of the Twinky protein is unknown. The C10orf2 gene mutations that cause ...

  7. Language Disabilities in Infantile Autism: A Brief Review and Comment.

    ERIC Educational Resources Information Center

    Schwartz, Steven

    1981-01-01

    Past studies of autistic children's memory for linguistic materials have shown that autistics have a special linguistic coding difficulty. Because the autistic deficit stems from a failure to use semantic and syntactic knowledge or from a failure to acquire such forms, future research should explore the mechanics underlying this deficit. (PJM)

  8. Genetics Home Reference: infantile-onset ascending hereditary spastic paralysis

    MedlinePlus

    ... and paraplegia result from degeneration (atrophy) of motor neurons , which are specialized nerve cells in the brain ... highest amounts in the brain, particularly in motor neurons. Alsin turns on (activates) multiple proteins called GTPases ...

  9. Infantile Growth Hormone Deficiency and X- Linked Adrenal Hypoplasia Congenita

    PubMed Central

    Chung, Stephanie T.; Chi, Carolyn H.; Haymond, Morey W.; Jeha, George S.

    2015-01-01

    Context X-linked adrenal hypoplasia congenita (AHC) is a rare but important cause of primary adrenal insufficiency and can be associated with significant morbidity and mortality. AHC is caused by mutations within the NROB1 gene that codes for the DAX-1 protein, an orphan nuclear receptor essential for the development of the hypothalamic-pituitary-adrenal axis. Affected individuals typically present in early infancy with adrenal insufficiency and growth is usually normal once medical therapy is instituted. Here we report the first case of growth hormone deficiency in an infant with AHC and a novel NROB1 missense mutation. Case A two-week old infant presented with salt-losing adrenal crises and a normal newborn screen. Tests of adrenal function confirmed adrenal hypoplasia congenita and molecular evaluation revealed a novel missense NROB1 mutation. Replacement steroid therapy was promptly initiated, but he subsequently developed growth failure despite optimal nutritional and medical steroid therapy. Further biochemical analyses confirmed isolated idiopathic growth hormone deficiency. Conclusions Growth failure in adequately treated infants with adrenal hypoplasia congenita is rare and the role of DAX-1 in the development of pituitary somatotropes is not known. There is variable genotype-phenotype correlation in X-linked adrenal hypoplasia congenita but novel NROB1 missense mutations could offer insight into the function of the various DAX-1 ligand-binding domains. PMID:27110597

  10. Atypical MR lenticular signal change in infantile isovaleric acidemia.

    PubMed

    Wani, Nisar A; Qureshi, Umer Amin; Jehangir, Majid; Ahmad, Kaiser; Hussain, Zahid

    2016-01-01

    Isovaleric acidemia (IVA) is an inborn error of branched chain amino acid metabolism that may manifest as acute neonatal metabolic acidosis or as chronic intermittent form with developmental delay or recurrent episodes of acute metabolic acidosis. Early diagnosis is the key to prevent morbidity and mortality. Brain imaging abnormalities are rarely described in IVA. We report a case of chronic intermittent IVA with acute presentation in a 4-month-old infant who presented with acute metabolic acidosis. Brain magnetic resonance imaging (MRI) revealed symmetric signal intensity changes in bilateral lentiform nuclei with an unreported T1-weighted (T1W) symmetric hyperintense ring-like appearance in bilateral putamen. PMID:27081237

  11. Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma.

    PubMed

    Austin Smith, Wallace; Cope, Austin; Fernandez, Martin; Parekh, Palak

    2016-01-01

    Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder.  Other manifestations include palmoplantar keratoderma (PPK).  EI results from mutations in the keratin 1 and keratin 10 genes. Phenotypic variability is seen in affected individuals based on the genotypic mutation.  We present a mother and her newborn son with EI and prominent PPK in the mother, which also developed in the child at a few months of age.  Genotype analysis was performed on the newborn child who was found to harbor a mutation in the keratin 1 gene. This family demonstrates the phenotypic expression of PPK associated with keratin 1 gene mutations and illustrates the importance of genotype-phenotypecorrelation in this disorder. PMID:27617465

  12. [Reversible porencephalic cyst related to shunt dysfunction].

    PubMed

    Santín-Amo, José M; Rico-Cotelo, María; Serramito-García, Ramón; Gelabert-González, Miguel; Allut, Alfredo G

    2014-03-16

    Introduccion. El tratamiento quirurgico de la hidrocefalia es uno de los procedimientos quirurgicos mas habituales en la neurocirugia pediatrica, y las derivaciones ventriculoperitoneales constituyen una herramienta fundamental en el tratamiento de la hidrocefalia tanto infantil como del adulto. Las complicaciones de las valvulas son relativamente frecuentes, sobre todo en la poblacion pediatrica, y, entre estas, las mas habituales incluyen: las obstrucciones, las desconexiones, el hiperdrenaje y las infecciones. Caso clinico. Niña de 7,5 años, portadora de una valvula ventriculoperitoneal, que presentaba cefalea intermitente. Un estudio con tomografia computarizada demostro una lesion quistica temporal derecha. Tras la revision valvular, la tomografia computarizada evidencio la reduccion del quiste. Conclusiones. La formacion de una cavidad porencefalica es una complicacion poco frecuente. Se relaciona con problemas en el cateter distal en pacientes con ventriculos dilatados y de las que existen escasas referencias en la bibliografia.

  13. [National consensus on the modified Atkins diet].

    PubMed

    Vaccarezza, María; Agustinho, Ariela; Alberti, M Julia; Argumedo, Laura; Armeno, Marisa; Blanco, Virginia; Bouquet, Cecilia; Cabrera, Analía; Caraballo, Roberto; Caramuta, Luciana; Cresta, Araceli; de Grandis, Elizabeth S; DeMartini, Martha G; Diez, Cecilia; Diz, Mariana; Dlugoszewski, Corina; Escobal, Nidia; Ferrero, Hilario; Galicchio, Santiago; Gambarini, Victoria; Gamboni, Beatriz; Gonzalez, Lara; Guisande, Silvina; Hassan, Amal; Matarrese, Pablo; Mestre, Graciela; Pesce, Laura; Rios, Viviana; Semprino, Marcos; Sosa, Patricia; Toma, Marisol; Viollaz, Rocío; Panico, Luis

    2016-04-16

    Introduccion. La epilepsia es una enfermedad cronica que afecta al 0,5-1% de la poblacion, y un tercio de los pacientes evoluciona hacia una forma refractaria a los farmacos antiepilepticos. Dentro de los tratamientos no farmacologicos disponibles, la dieta cetogenica Atkins modificada es un tratamiento efectivo utilizado desde 2003 como otra alternativa en niños y adultos con epilepsia refractaria. Desarrollo. El Comite Nacional de Dieta Cetogenica, dependiente de la Sociedad Argentina de Neurologia Infantil, elaboro este consenso sobre dieta Atkins modificada basandose en una revision de la bibliografia y en su experiencia clinica. Este consenso explica los distintos aspectos que hay que tener en cuenta sobre la dieta Atkins modificada, eleccion de pacientes, forma de implementacion, diversos controles y efectos adversos. A diferencia de la dieta cetogenica clasica, se inicia sin ayuno ni hospitalizacion, y no hay restriccion proteica, calorica o hidrica, por lo que mejora la palatabilidad y, consecuentemente, la tolerabilidad. Conclusiones. La dieta Atkins modificada es un tratamiento util para pacientes con epilepsia intratable. La publicacion de este consenso ofrece la posibilidad de orientar a nuevos centros en su implementacion.

  14. Tratamiento del cáncer sin daño al corazón

    Cancer.gov

    Investigadores de los campos de oncología y de cardiología están trabajando para encontrar formas de impedir, manejar y posiblemente aun revertir los efectos secundarios cardiovasculares de ciertas terapias del cáncer.

  15. Consideraciones medicas y psicologicas en ninos de 5 y 6 anos de 6 guarderias infantiles

    ERIC Educational Resources Information Center

    DeSilva, Milagros Guerra; DeViloria, Carmen Leon

    1975-01-01

    This study assessed the effect of attendance at state kindergartens of a group of 181 five- and six-year-olds from low socioeconomic backgrounds. The effects of a supplemental nutritional program as well as the children's attitudes toward attendance were considered. (MS)

  16. Interaccion adulto-nino en la escuela infantil (Adult-Child Interaction in Nursery School).

    ERIC Educational Resources Information Center

    Angel, C.; And Others

    1993-01-01

    Examined teacher-child interactions in 2 nursery schools in Barcelona, Spain, when the children (15 2-year olds and 15 4-year olds) were alone or in a group, observing a group in which they were a member, and not part of a group. For these conditions, compared differences in age, gender, and the forms of verbal and nonverbal communication used.…

  17. VIVA LA SALUD INFANTILE: Pediatric obesity treatment in an underserved Hispanic community

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Pediatric obesity in the US disproportionately impacts minority populations who face socioeconomic and cultural barriers to weight management programs. The specific aim of this pilot study was to test the effectiveness of diet behavior modification or diet behavior modification plus structured aerob...

  18. [Pediatric liver transplant program at Hospital Infantil de Mexico Federico Gomez].

    PubMed

    Varela-Fascinetto, Gustavo; Hernández-Plata, J Alejandro; Nieto-Zermeño, Jaime; Alcántar-Fierros, J Manuel; Fuentes-García, Victor; Castañeda-Martínez, Pedro; Valencia-Mayoral, Pedro; Salgado-Ramírez, J Manuel

    2011-09-01

    This article reports the experience of the largest pediatric liver transplant (LT) program in México. Between June 1998 and May 2011, 76 LT were performed in 74 recipients, including 80% cadaveric-whole organ grafts and 20% segmental grafts, 12% of those coming from live donors and 8% from cadaver reduced donors. The most common indication for LT was biliary atresia (43%), followed by metabolic disorders (13%) and fulminant hepatitis (12%). Most of the recipients were infants or toddlers weighing <15 kg (age range 0.7-17.2 years, weight range 6.5-66 kg), 73% had moderate to severe malnutrition and 72% had multiples surgeries previous to LT. There were 9 cases of hepatic artery thrombosis (11.8%) and 2 portal vein thrombosis (2.6%), however, 8 of these 10 grafts were rescued with early thrombectomy and reanastomosis. All biliary complications (19 cases, 25%) were solved with medical or surgical interventions and did not cause any graft loss. Acute cellular rejection (30 cases, 39%) required thymoglobulin in only 3 cases and chronic rejection (4 cases, 5%) has been retransplanted in 2 cases. CMV infection or reactivation occurred in 30% of cases and easily responded to preemptive therapy. Nine recipients developed postLT neoplasias (7 post-transplant lymphoproliferative disorders, one multivisceral Kaposi sarcoma and one systemic smooth muscle tumor). Five of them responded to decreasing or discontinuing immunosuppression, and 2 are completely tolerant to the graft. The one and five-year patient survival for those LT performed during 2001-2011 was 85 and 75%. The first successful live donor LT in the country was performed in 2001 at this program, as was the first simultaneous liver-kidney transplant in a child. This is the largest and most successful pediatric LT series in the country. Our results demonstrate that pediatric LT is a feasible undertaking in Mexico, with survival rates similar to those of foreign centers.

  19. C.I.S.H. Laparoscopic Hysterectomy: The Experience at the "Centro Materno Infantil"

    PubMed

    Decunto; Traverso; Gibelli; Harpe

    1994-08-01

    Laparoscopic hysterectomy has been established firmly as a surgical alternative to standard abdominal hysterectomy around the world. In Argentina, we had introduced operative laparoscopy at the Hospital Aleman in May 1993, with a major change from basic diagnostic laparoscopy to advanced operative laparoscopy. A total of 180 major laparoscopic cases have been performed from May 1993 to January 1994, including laparoscopic hysterectomies. Of our first five C.I.S.H. laparoscopic hysterectomies, all had excellent outcomes, with greatly diminished hospital stay and less usage of analgesics postoperatively. The average length of stay was 2.5 days. No major complications occurred.

  20. Una Experiencia Pedagogica en el Jardin Infantil "La Cabana" (A Teaching Experience in "La Cabana" Kindergarten).

    ERIC Educational Resources Information Center

    de la Vega, B.

    1992-01-01

    Reviews the history of La Cabana kindergarten, which provides preschool education and meals for 100 children and sewing classes for mothers in a working class neighborhood in Bogota, Colombia. Describes the implementation of a new curriculum which develops child creativity through free choice of activities around a common project. (AC)