A case study on the successful management of Cotard's syndrome in pregnancy: Case Reports.

PubMed

Howe, G; Srinivasan, M

1999-01-01

Cotard's Syndrome is rare and no cases have been reported in pregnancy. We describe a case of a woman in the third trimester who attempted suicide by jumping out of a window, sustaining multiple fractures. Delivery of her baby by Caesarean section and orthopaedic intervention was necessary before electroconvulsive therapy (ECT) could be administered, resulting in a successful outcome for both mother and child. (Int J Psych Clin Pract 1999; 3: 293-295).

Michelin tire baby syndrome: a review of the literature and a proposal for diagnostic criteria with adoption of the name circumferential skin folds syndrome.

PubMed

Rothman, Ilene L

2014-01-01

The term Michelin tire baby (MTB), named for the cartoon mascot of the Michelin Tire Company, has been used to describe babies with multiple symmetric circumferential rings of folded skin. In those reported with this phenotype who had skin biopsies, pathology has shown nevus lipomatosis, smooth muscle hamartoma, degenerative collagen, and scarring. Others did not undergo biopsy or had normal skin. Many individuals with the MTB phenotype have had a variety of other congenital anomalies. I review the literature on MTB and the history of the designation Michelin tire baby Syndrome (MTBS). Because the term MTBS has been poorly defined or not defined at all, I propose strict criteria for diagnosis. In doing so, it is recommended that the syndrome be renamed to avoid further confusion. © 2014 Wiley Periodicals, Inc.

Michelin tire baby syndrome--a case report and literature review.

PubMed

Farooqi, Ghazala A; Mulla, Shafeek A; Ahmad, Mohammad

2010-09-01

Michelin tire syndrome is described in a two month old infant of Filipino-Saudi parents. The infant had generalized excessive folding of skin and facial dysmorphism. The skin biopsy showed excessive adipose tissue in reticular dermis, papillary dermis and around adnexa. Spontaneous partial improvement in skin folding was noted on follow up. To the best of our knowledge, this is the first case ever reported locally of Michelin tire.

The concept of "baby lung".

PubMed

Gattinoni, Luciano; Pesenti, Antonio

2005-06-01

The "baby lung" concept originated as an offspring of computed tomography examinations which showed in most patients with acute lung injury/acute respiratory distress syndrome that the normally aerated tissue has the dimensions of the lung of a 5- to 6-year-old child (300-500 g aerated tissue). The respiratory system compliance is linearly related to the "baby lung" dimensions, suggesting that the acute respiratory distress syndrome lung is not "stiff" but instead small, with nearly normal intrinsic elasticity. Initially we taught that the "baby lung" is a distinct anatomical structure, in the nondependent lung regions. However, the density redistribution in prone position shows that the "baby lung" is a functional and not an anatomical concept. This provides a rational for "gentle lung treatment" and a background to explain concepts such as baro- and volutrauma. From a physiological perspective the "baby lung" helps to understand ventilator-induced lung injury. In this context, what appears dangerous is not the V(T)/kg ratio but instead the V(T)/"baby lung" ratio. The practical message is straightforward: the smaller the "baby lung," the greater is the potential for unsafe mechanical ventilation.

Parents' Training: Effects of the Self-Help Skills Programme with Down's Syndrome Babies

ERIC Educational Resources Information Center

Sanz, Maria Teresa; Menendez, Javier

2010-01-01

This article reviews studies evaluating the effectiveness of two types of early intervention programmes for babies with Down's syndrome (DS). Evaluation of self-help early intervention programmes was done with two types of training with the parents: in the first the parents learned the training programme from observing the clinician, and in the…

Safe sleep practices and sudden infant death syndrome risk reduction: NICU and well-baby nursery graduates.

PubMed

Fowler, Aja J; Evans, Patricia W; Etchegaray, Jason M; Ottenbacher, Allison; Arnold, Cody

2013-11-01

Our primary objective was to compare parents of infants cared for in newborn intensive care units (NICUs) and infants cared for in well-baby ("general") nurseries with regard to knowledge and practice of safe sleep practices/sudden infant death syndrome risk reduction measures and guidelines. Our secondary objective was to obtain qualitative data regarding reasons for noncompliance in both populations. Sixty participants (30 from each population) completed our survey measuring safe sleep knowledge and practice. Parents of NICU infants reported using 2 safe sleep practices-(a) always placing baby in crib to sleep and (b) always placing baby on back to sleep-significantly more frequently than parents of well infants. Additional findings and implications for future studies are discussed.

Motor Development Programming in Trisomic-21 Babies

ERIC Educational Resources Information Center

Sanz, Teresa; Menendez, Javier; Rosique, Teresa

2011-01-01

The present study contributes to the understanding of gross motor development in babies with Down's syndrome. Also, it facilitates the comprehension of the efficiency of the early motor stimulation as well as of beginning it as early as possible. We worked with two groups of babies with Down's syndrome, beginning the early motor training in each…

Bartsocas-Papas Syndrome: A Case Report and Review of the Literature.

PubMed

Erturan, Gurhan; Holton, James; Wall, Steven; Giele, Henk

2016-04-01

Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited form of the popliteal pterygium syndrome characterized by severe growth retardation, midface hypoplasia, popliteal pterygia, and syndactyly. Almost all affected babies die in utero or infancy. We report the difficulties of reconstruction and ongoing plastic surgical management in an 8-year-old child with BPS. With increasingly sophisticated resuscitation and supportive techniques, it is possible that more patients with BPS will survive beyond the neonatal period. This raises new challenges with reconstruction highlighted by this case with a difficult balance between trying to overcome some of the profound effects of the syndrome versus diminishing quality of life for the child by repeated and often unsuccessful surgical procedures.

Comparative Study of the Cognitive Sequelae of School-Aged Victims of Shaken Baby Syndrome

ERIC Educational Resources Information Center

Stipanicic, Annie; Nolin, Pierre; Fortin, Gilles; Gobeil, M. F.

2008-01-01

Objective: Shaken Baby Syndrome (SBS) is now recognized as being the main cause of severe traumatic brain injury in infancy. However, our understanding of the impact of this type of abuse on child development remains sketchy. The main objective of the current study was therefore to shed light on the cognitive dysfunctions that are particular to…

Early Language Stimulation of Down's Syndrome Babies: A Study on the Optimum Age To Begin.

ERIC Educational Resources Information Center

Aparicio, Maria Teresa Sanz; Balana, Javier Menendez

2002-01-01

Examined the marked delay in language acquisition suffered by babies with Down Syndrome and how early treatment affects the subsequent observed development among 36 subjects in Spain. Found statistically significant differences in language acquisitions in favor of newborns, compared with 90-day-old through 18-month-old infants who experienced…

Embryo with XYY syndrome presenting with clubfoot: a case report.

PubMed

Athanatos, Dimitrios; Tsakalidis, Christos; Tampakoudis, George P; Papastergiou, Maria N; Tzevelekis, Fillipos; Pados, George; Assimakopoulos, Efstratios A

2009-09-01

Talipes equinovarus (clubfoot) is a skeletal anomaly of the embryo's legs, with a frequency of 1-3:1000 living born babies. It may occur as an independent anomaly, or as part of a syndrome with concomitant chromosomal abnormalities.XYY syndrome is a quite rare sex chromosomal abnormality with 47, XYY karyotype. Prenatal diagnosis is usually accidental because the syndrome is not associated with increased prevalence of sonographically detectable defects. The possibility of co-existence of skeletal anomalies in embryos with 47, XYY karyotype is scant, with only a few cases reported in the literature.An amniocentesis was performed in an embryo at the 21(st) week of gestation because clubfoot was detected in the 2(nd) trimester scan, and the embryo was found to have abnormal karyotype of 47, XYY. Current opinions and management dilemmas are discussed.

Embryo with XYY syndrome presenting with clubfoot: a case report

PubMed Central

Tsakalidis, Christos; Tampakoudis, George P; Papastergiou, Maria N; Tzevelekis, Fillipos; Pados, George; Assimakopoulos, Efstratios A

2009-01-01

Talipes equinovarus (clubfoot) is a skeletal anomaly of the embryo’s legs, with a frequency of 1-3:1000 living born babies. It may occur as an independent anomaly, or as part of a syndrome with concomitant chromosomal abnormalities. XYY syndrome is a quite rare sex chromosomal abnormality with 47, XYY karyotype. Prenatal diagnosis is usually accidental because the syndrome is not associated with increased prevalence of sonographically detectable defects. The possibility of co-existence of skeletal anomalies in embryos with 47, XYY karyotype is scant, with only a few cases reported in the literature. An amniocentesis was performed in an embryo at the 21st week of gestation because clubfoot was detected in the 2nd trimester scan, and the embryo was found to have abnormal karyotype of 47, XYY. Current opinions and management dilemmas are discussed. PMID:19918427

Practitioner Review: Beyond Shaken Baby Syndrome--What Influences the Outcomes for Infants following Traumatic Brain Injury?

ERIC Educational Resources Information Center

Ashton, Rebecca

2010-01-01

Background: Traumatic brain injury (TBI) in infancy is relatively common, and is likely to lead to poorer outcomes than injuries sustained later in childhood. While the headlines have been grabbed by infant TBI caused by abuse, often known as shaken baby syndrome, the evidence base for how to support children following TBI in infancy is thin.…

Communication skills of residents to families with Down syndrome babies.

PubMed

Dogan, Derya G; Kutluturk, Yesim; Kivilcim, Meltem; Canaloglu, Sinem K

2016-12-01

Generally, pediatricians are the first health caregivers to deliver initial diagnosis of Down syndrome (DS) to the families. However, most of the parents are not satisfied with the contents and how they receive information when their child is born with DS. Pediatric residents should target educational interventions to help parents to overcome with these issues and to provide accurate information. The objective is to assess comfort levels and training requirements of pediatric residents to communicate with parents of babies born with Down syndrome. Diagnostic Situations Inventory (DSI) is a rating scale which included ten questions to assess discomfort level. A survey was sent via mobile, websites and all the social media which were available to all pediatrics residents in the country. Socio-demographic factors including information about training requirement were collected as well. From the 326 participants, total mean discomfort level was 30.22 in DSI out of 50 which was the highest score. Discomfort level was significantly increased in female participants (p= 0.033). Being female (p= 0.014), having less residency level (p= 0.028), examining less number of patients with Down syndrome (p= 0.025) and having higher discomfort levels (p= 0.001) were found to be related with increased training requirement. From the residents, 84% declared the need for additional training. This study showed that pediatric residents had a high level of discomfort when communicating with parentes of newborn with Down Syndrome. Female residentes had a discomfort level significantly higher than male residentes. Sociedad Argentina de Pediatría

A Study of the Effect of Age of Onset of Treatment on the Observed Development of Down's Syndrome Babies.

ERIC Educational Resources Information Center

Sanz, M. T.; Menendez, J.

1996-01-01

Studied how early treatment affected the development of a sample of 30 Down syndrome babies incorporated into the study at different ages. Found that development quotients descended significantly at 18 months of age as the period in treatment shortened. (AJH)

The use of continuous positive airway pressure in preterm babies with respiratory distress syndrome: a report from Baghdad, Iraq.

PubMed

Hameed, Numan Nafie; Abdul Jaleel, Ra'id Khalil; Saugstad, Ola Didrik

2014-04-01

To study maternal and neonatal risk factors related to outcome of preterm babies with respiratory distress syndrome (RDS) on Continuous Positive Airway Pressure (CPAP) in a tertiary Iraqi NICU. A prospective case study carried out from January 5, 2011 to January 5, 2012, on 70 preterm neonates with RDS who were started on CPAP. Maternal and infant variables of preterm babies with successful or failed CPAP therapy were compared. Seventy neonates, 44 (63%) males and 26 (37%) females were included. Mean (SD) gestation was 32.8 (2.8) weeks and mean (SD) birth weight was 1860 (656) g. Thirty-seven (52.9%) babies failed CPAP, of them 29 (78.3%) were started on mechanical ventilation. The variables associated with failure of CPAP were: Birth weight ≤1500 g, gestational age ≤30 weeks, white out on the chest X-ray, FiO2 ≥50% at 20 min of CPAP, PEEP ≥5.5 cm H2O. Mortality rates were 94.6% in CPAP failures versus 5.4% in CPAP successes (p = 0.001). In infants surviving till discharge, duration of hospital stay was longer in babies who were CPAP successes (9.6 ± 3.7 versus 3.0 ± 2.7 days, p = 0.001). Gestational age, birth weight, whiteout chest X-ray, and FiO2 are important predictive values for success of CPAP therapy. A larger prospective multicenter controlled trial is needed to determine the benefits and risks of CPAP and predictors of its failure in our setting. Our results may be useful for others practicing in similar settings as us.

[Perioperative management for open balloon atrial septostomy immediately after caesarean section in a baby with hypoplastic left heart syndrome and intact atrial septum].

PubMed

Yokoi, Nagisa; Toda, Yuichiro; Suzuki, Satoshi; Kanazawa, Tomoyuki; Suemori, Tomohiko; Shimizu, Kazuyoshi; Iwasaki, Tatsuo; Morita, Kiyoshi

2010-10-01

Hypoplastic left heart syndrome (HLHS) with intact atrial septum (IAS) is an extreme type of single ventricle physiology among congenital heart diseases, in which a baby cannot supply oxygenated blood into systemic circulation without alternative pathway. We report the case of the neonate undergoing open balloon atrial septostomy (BAS) and bilateral pulmonary artery banding (PAB) soon after scheduled caesarean sections (C/S). A 35-year-old female was pregnant and fetal echocardiography at 32 weeks revealed one of the twins as HLHS/IAS. Severe hypoxia soon after birth was suspected. Thus, scheduled C/S followed by open BAS was planned. At 36 weeks of gestation, the mother was anesthetized with spinal bupivacaine and the female baby with HLHS/IAS was delivered. After diagnosed definitely by pediatric cardiologists, her trachea was intubated by anesthegiologists and umbilical catheters were placed by neonatologists. Then the baby was transferred to neighboring operating theater for BAS 68 minutes after the birth, while her Sp(O2) was maintained around 75-85% through serial procedures. Open BAS and PAB were performed under general anesthesia without any hemodynamic instability or severe hypoxia. Cooperation among anesthegiologists, neonatologists, pediatric cardiologists, and cardiac surgeons is mandatory in order to successfully complete such a rushed procedure.

Nuclear AgNOR protein enhancement in nucleoplasms of peripheral blood lymphocytes of babies/children with Down syndrome.

PubMed

Imamoglu, Nalan; Eroz, Recep; Canatan, Halit; Demirtas, Halil; Saatci, Çetin

2016-03-01

Down syndrome (DS) is one of the most common chromosomal disorders. The factors contributing to the mental retardation together with other defects in this syndrome have not been fully explained. Individuals with DS have extra rRNA gene family since they carry an extra chromosome 21. The few reports available are on the relationship between the nucleolus organizer regions (NORs) and DS phenotype. The in vivo regulation of NORs expression on the extra chromosome 21 is not completely understood. Previous studies have shown that nucleoli of lymphocytes from infants (mostly neonates) with DS contain more in vivo and in vitro nucleolar AgNOR proteins when compared with healthy infants. The objective of this study is to compare the in vivo nuclear AgNOR protein level in nucleoplasms (also called as karyoplasm) of nonstimulated peripheral blood lymphocytes from babies/children with DS and healthy controls. Peripheral blood samples obtained from 20 babies/children with DS and 20 matched healthy controls were smeared on clean glass slides and then AgNOR staining was performed. The AgNOR protein level in nucleoplasms of lymphocytes from both groups was calculated using a computer program. Nearly 100 interphase nuclei per individual were analysed. Average nuclear AgNOR protein levels in nucleoplasms of lymphocytes from babies/children with DS were found to be significantly higher than those of the controls (P < 0.001). On the basis of our present results, we propose that the increase of nuclear AgNOR protein in in vivo conditions may contribute to the formation of DS phenotypes. © 2016 Wiley Periodicals, Inc.

Congenital band syndrome with pseudarthrosis of the radius and ulna and impending vascular compromise: a case report.

PubMed

Ho, Christine A; Richards, B Stephens; Ezaki, Marybeth

2014-09-01

Although amniotic band syndrome is relatively rare, reports of pseudarthrosis in conjunction with amniotic band syndrome are even rarer, as are reports of impending vascular compromise in the neonatal period. Careful serial examinations and timely surgical intervention can successfully avoid the catastrophic event of limb loss. We report on a case of upper extremity amniotic band syndrome with pseudarthrosis of the radius and ulna that was complicated by vascular compromise in a neonate. Chart and radiographic data for this single case were reviewed and reported retrospectively. A 1-day-old neonate born at 28 3/7 weeks of gestational age was transferred to our institution for increased swelling to the forearm distal to a congenital band associated with an underlying radius and ulna pseudarthrosis. Although the forearm and hand were soft and viable initially, severe edema and swelling occurred after fluid resuscitation, and on the fourth day of life, the patient underwent simple band releases at bedside with 2 longitudinal incisions over the radius and ulna. Circulation was restored, and the pseudarthrosis healed with no further surgical intervention. Successful delayed reconstruction of the band with Z-plasties was performed when the baby was 7 months of age. In this case, a relatively simple, straightforward procedure that is familiar to most pediatric orthopaedists salvaged a compromised neonatal limb with amniotic band syndrome and allowed healing of a pseudarthrosis, allowing more complex reconstruction to be performed in a delayed, elective manner. Careful observation is necessary in the neonatal period of the baby with a severe band; a viable, well-perfused, compressible extremity may still be at risk.

Assessment of parental awareness of the shaken baby syndrome in Ireland.

PubMed

Mann, Amandeep K; Rai, Birendra; Sharif, Farhana; Vavasseur, Claudine

2015-10-01

Shaken baby syndrome (SBS) results in cerebral trauma. Creating awareness through education may improve parental response to a distressed infant. We aim to assess current parental understanding of SBS and identify knowledge gaps. A prospective assessment was carried out in two independent maternity hospitals (National Maternity Hospital (NMH) and Midland Regional Hospital (MRH)) over a 4-month period. Multi-dimensional questionnaires were distributed to parents (n = 233) and results were assessed anonymously. Statistical analysis was performed using SPSS21 software. Two hundred thirty-three participants were included: n = 114 (NMH), n = 119 (MRH). Fifty-four percent (n = 62, NMH) and 50 % (n = 60, MRH) had never heard of SBS. Of those who had, media was the commonest source: 94 % (47/50) NMH; 86 % (47/59) MRH. Less than 1 % of participants obtained information through a health care provider. Nearly all respondents wanted further information, regardless of whether they had prior knowledge (100 % (NMH); 99.2 % (MRH)). Participants wanted information delivered via a midwife (51 % (58/114) NMH; 45 % (54/119) MRH), with reading material (61 % (69/114) NMH; 59 % (70/119) MRH), during pre-natal period (50 % (57/114) NMH; 65 % (77/119) MRH). Importantly, parents of Irish origin were more likely to have heard of SBS compared to those of non-Irish origin (p = 0.026 (NMH), p = 0.020 (MRH)). Half of all participants had no prior knowledge of SBS, with majority expressing interest in learning more. Therefore, a national "Don't Shake" campaign is evolving. • Studies have shown that educating parents regarding shaken baby syndrome (SBS) may result in a more safe and appropriate response to infant crying [ 3 ]. • In Ireland, there is no such education provided to parents in maternity hospitals. What is New: • Just over half of our participants had not heard of SBS, and we have identified parental perceptions of SBS, and parents preferred method of

Fussy Babies, Worried Families, and a New Service Network

ERIC Educational Resources Information Center

Gilkerson, Linda; Gray, Larry; Mork, Nancy

2005-01-01

The authors document the conceptualization, over time, of "fussy baby syndrome" and the establishment of a Fussy Baby Clinic. Excessive infant crying (commonly called colic) typically subsides in the first 3 months but may set up a cycle of parent-infant distress. Families studied felt a high degree of emotional stress and physical exhaustion;…

Acute heroin intoxication in a baby chronically exposed to cocaine and heroin: a case report

PubMed Central

2011-01-01

Introduction Acute intoxication with drugs of abuse in children is often only the tip of the iceberg, actually hiding chronic exposure. Analysis using non-conventional matrices such as hair can provide long-term information about exposure to recreational drugs. Case presentation We report the case of a one-month-old Caucasian boy admitted to our pediatric emergency unit with respiratory distress and neurological abnormalities. A routine urine test was positive for opiates, suggesting an acute opiate ingestion. No other drugs of misuse, such as cocaine, cannabis, amphetamines or derivatives, were detected in the baby's urine. Subsequently, hair samples from the baby and the parents were collected to evaluate the possibility of chronic exposure to drug misuse by segmental analysis. Opiates and cocaine metabolites were detected in hair samples from the baby boy and his parents. Conclusions In light of these and previous results, we recommend hair analysis in babies and children from risky environments to detect exposure to heroin and other drug misuse, which could provide the basis for specific social and health interventions. PMID:21729296

Mediastinal emphysema after head-banging in a rock artist: pseudo shaken-baby syndrome in adulthood.

PubMed

Matsuzaki, Saeko; Tsunoda, Koichi; Chong, Tonghyo; Hamaguchi, Reo

2012-12-01

A 34-year-old man was seen because of severe right neck pain. He was a guitarist in a special type of heavy metal rock (so-called visual-kei, a subgenre related to glam-rock) band and habitually shook his head violently throughout concert performances. He regularly experienced neck and chest pain after a concert, which persisted for some time. Computed tomography scanning of the neck showed mediastinal emphysema. We surmise that head-banging resemble those of shaken-baby syndrome. Copyright © 2012 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Passive smoking in babies: The BIBE study (Brief Intervention in babies. Effectiveness)

PubMed Central

2010-01-01

Background There is evidence that exposure to passive smoking in general, and in babies in particular, is an important cause of morbimortality. Passive smoking is related to an increased risk of pediatric diseases such as sudden death syndrome, acute respiratory diseases, worsening of asthma, acute-chronic middle ear disease and slowing of lung growth. The objective of this article is to describe the BIBE study protocol. The BIBE study aims to determine the effectiveness of a brief intervention within the context of Primary Care, directed to mothers and fathers that smoke, in order to reduce the exposure of babies to passive smoking (ETS). Methods/Design Cluster randomized field trial (control and intervention group), multicentric and open. Subject: Fathers and/or mothers who are smokers and their babies (under 18 months) that attend pediatric services in Primary Care in Catalonia. The measurements will be taken at three points in time, in each of the fathers and/or mothers who respond to a questionnaire regarding their baby's clinical background and characteristics of the baby's exposure, together with variables related to the parents' tobacco consumption. A hair sample of the baby will be taken at the beginning of the study and at six months after the initial visit (biological determination of nicotine). The intervention group will apply a brief intervention in passive smoking after specific training and the control group will apply the habitual care. Discussion Exposure to ETS is an avoidable factor related to infant morbimortality. Interventions to reduce exposure to ETS in babies are potentially beneficial for their health. The BIBE study evaluates an intervention to reduce exposure to ETS that takes advantage of pediatric visits. Interventions in the form of advice, conducted by pediatric professionals, are an excellent opportunity for prevention and protection of infants against the harmful effects of ETS. Trial Registration Clinical Trials.gov Identifier

Shaken baby syndrome and a triple-dose strategy for its prevention.

PubMed

Stewart, Tanya Charyk; Polgar, Denise; Gilliland, Jason; Tanner, David A; Girotti, Murray J; Parry, Neil; Fraser, Douglas D

2011-12-01

Inflicted traumatic brain injury associated with Shaken Baby Syndrome (SBS) is a leading cause of injury mortality and morbidity in infants. A triple-dose SBS prevention program was implemented with the aim to reduce the incidence of SBS. The objectives of this study were to describe the epidemiology of SBS, the triple-dose prevention program, and its evaluation. Descriptive and spatial epidemiologic profiles of SBS cases treated at Children's Hospital, London Health Sciences Centre, from 1991 to 2010 were created. Dose 1 (in-hospital education): pre-post impact evaluation of registered nurse training, with a questionnaire developed to assess parents' satisfaction with the program. Dose 2 (public health home visits): process evaluation of additional education given to new parents. Dose 3 (media campaign): a questionnaire developed to rate the importance of factors on a 7-point Likert scale. These factors were used to create weights for statistical modeling and mapping within a geographic information system to target prevention ads. Forty-three percent of severe infant injuries were intentional. A total of 54 SBS cases were identified. The mean age was 6.7 months (standard deviation, 10.9 months), with 61% of infant males. The mean Injury Severity Score was 26.3 (standard deviation, 5.5) with a 19% mortality rate. Registered nurses learned new information on crying patterns and SBS, with a 47% increase in knowledge posttraining (p < 0.001). Over 10,000 parents were educated in-hospital, a 93% education compliance rate. Nearly all parents (93%) rated the program as useful, citing "what to do when the crying becomes frustrating" as the most important message. Only 6% of families needed to be educated during home visits. Locations of families with a new baby, high population density, and percentage of lone parents were found to be the most important factors for selecting media sites. The spatial analysis revealed six areas needed to be targeted for ad locations. SBS is

Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases.

PubMed

Plaiasu, Vasilica; Ochiana, Diana; Motei, Gabriela; Anca, Ioana; Georgescu, Adrian

2010-07-01

Patau syndrome (trisomy 13) is one of the most common chromosomal anomalies clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing. In this review we outline the clinical and cytogenetic aspects of trisomy 13 and associated phenotypes for 5 cases analyzed in the last 3 years, referred to our Clinical Genetics Department. For each child cytogenetic analysis was performed to determine the genetic variant; also, the patients were investigated for other associated malformations (cardiac, cerebral, renal, ocular anomalies). All 5 cases presented multiple malformations, including some but not all signs of the classical clinical triad suggestive of Patau syndrome. The cytogenetic investigation confirmed for each case the suspected diagnosis and also indicated the specific genetic variant, this being a valuable information for the genetic counselling of the families. The application of genetic analysis can increase diagnosis and prognosis accuracy and have an impact on clinical management.

Challenging the Pathophysiologic Connection between Subdural Hematoma, Retinal Hemorrhage and Shaken Baby Syndrome

PubMed Central

Gabaeff, Steven C.

2011-01-01

Child abuse experts use diagnostic findings of subdural hematoma and retinal hemorrhages as near-pathognomonic findings to diagnose shaken baby syndrome. This article reviews the origin of this link and casts serious doubt on the specificity of the pathophysiologic connection. The forces required to cause brain injury were derived from an experiment of high velocity impacts on monkeys, that generated forces far above those which might occur with a shaking mechanism. These forces, if present, would invariably cause neck trauma, which is conspicuously absent in most babies allegedly injured by shaking. Subdural hematoma may also be the result of common birth trauma, complicated by prenatal vitamin D deficiency, which also contributes to the appearance of long bone fractures commonly associated with child abuse. Retinal hemorrhage is a non-specific finding that occurs with many causes of increased intracranial pressure, including infection and hypoxic brain injury. The evidence challenging these connections should prompt emergency physicians and others who care for children to consider a broad differential diagnosis before settling on occult shaking as the de-facto cause. While childhood non-accidental trauma is certainly a serious problem, the wide exposure of this information may have the potential to exonerate some innocent care-givers who have been convicted, or may be accused, of child abuse. PMID:21691518

Sudden deaths in adult-worn baby carriers: 19 cases.

PubMed

Bergounioux, J; Madre, C; Crucis-Armengaud, A; Briand-Huchet, E; Michard-Lenoir, A P; Patural, H; Dauger, S; Renolleau, S; Teychéne, A M; Henry, S; Biarent, D; Robin, C; Werner, E; Rambaud, C

2015-12-01

Soft infant carriers such as slings have become extremely popular in the west and are usually considered safe. We report 19 cases of sudden unexpected death in infancy (SUDI) linked to infant carrier. Most patients were healthy full-term babies less than 3 months of age, and suffocation was the most frequent cause of death. Infant carriers represent an underestimated cause of death by suffocation in neonates. • Sudden unexpected deaths in infancy linked to infant carrier have been only sparsely reported. • We report a series of 19 cases strongly suggesting age of less than 3 months as a risk factor and suffocation as the mechanism of death.

Catastrophic antiphospholipid syndrome during pregnancy and puerperium: maternal and fetal characteristics of 15 cases

PubMed Central

Gómez‐Puerta, José A; Cervera, Ricard; Espinosa, Gerard; Asherson, Ronald A; García‐Carrasco, Mario; da Costa, Izaias P; Andrade, Danieli C O; Borba, Eduardo F; Makatsaria, Alexander; Bucciarelli, Silvia; Ramos‐Casals, Manuel; Font, Josep

2007-01-01

Background The catastrophic variant of the antiphospholipid syndrome (APS) is a life‐threatening form of presentation of this syndrome that can be triggered by several factors. Aim To describe the characteristics of patients who developed catastrophic APS triggered during pregnancy and puerperium. Methods A review of the first 255 cases collected in the website‐based “CAPS Registry” was undertaken. Three new and unpublished cases of catastrophic APS developed during pregnancy and puerperium were added. Results Fifteen cases were identified. The mean (range) age was 27 (17–38) years. Most patients had a previous unsuccessful obstetric history. In 7 of 14 (50%) cases with available medical history, the catastrophic APS appeared during pregnancy, in 6 (43%) during the puerperium and in 1 (7%) after curettage for a fetal death. The main clinical and serological characteristics were similar to those patients with catastrophic APS triggered by other factors, except for a history of a higher prevalence of previous abortions (p<0.01). Several specific features were found, including the HELLP (haemolysis, elevated liver enzymes, low platelets) syndrome in 8 (53%) patients, placental infarctions in 4 (27%) patients, and pelvic vein thrombosis and myometrium thrombotic microangiopathy in 1 (7%) patient each. Mortality rate was high for the mothers (46%), and for the babies (54%). Conclusions It is important to consider the possibility of the development of catastrophic APS in those patients with signs of HELLP syndrome and multiorgan failure during pregnancy or puerperium, especially in those patients with previous history of abortions and/or thrombosis. PMID:17223653

Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome – Review of 5 cases

PubMed Central

PLAIASU, Vasilica; OCHIANA, Diana; MOTEI, Gabriela; ANCA, Ioana; GEORGESCU, Adrian

2010-01-01

ABSTRACT Introduction: Patau syndrome (trisomy 13) is one of the most common chromosomal anomalies clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing. Materials and methods: In this review we outline the clinical and cytogenetic aspects of trisomy 13 and associated phenotypes for 5 cases analyzed in the last 3 years, referred to our Clinical Genetics Department. For each child cytogenetic analysis was performed to determine the genetic variant; also, the patients were investigated for other associated malformations (cardiac, cerebral, renal, ocular anomalies). Discussion: All 5 cases presented multiple malformations, including some but not all signs of the classical clinical triad suggestive of Patau syndrome. The cytogenetic investigation confirmed for each case the suspected diagnosis and also indicated the specific genetic variant, this being a valuable information for the genetic counselling of the families. Conclusion: The application of genetic analysis can increase diagnosis and prognosis accuracy and have an impact on clinical management. PMID:21977150

Social Early Stimulation of Trisomy-21 Babies

ERIC Educational Resources Information Center

Aparicio, Maria Teresa Sanz; Balana, Javier Menendez

2003-01-01

This study was initiated with twenty Down's syndrome babies to verify whether subjects undergoing social early stimulation would benefit from this type of treatment. An experimental study was designed with two training groups: visual or written instructions. The analyses of the results established statistically significant differences in the…

Planning for the baby boomers' healthcare needs: a case study.

PubMed

Albert, Terri C; Johnson, Edward; Gasperino, Daniel; Tokatli, Pinar

2003-01-01

Will the impact of baby boomers, as they age, be a bonanza or a bust for the healthcare system? A range of perspectives prevail, from increasing in-patient admissions capacity to accommodate the sheer numbers, to the creation of a variety of healthcare services and delivery channels that address their unique requirements. This case study presents a top 100, regional hospital's approach to this dilemma. The strategic marketing process using segmentation, targeting, and positioning (STP) was employed to guide the administration's planning and decision making.

Congenital bilateral upper eyelid eversion: report of a case.

PubMed

Cingü, Abdullah Kürşat; Sahin, Alparslan; Yüksel, Harun; Ozkök, Ahmet; Arı, Seyhmus; Caça, Ihsan

2014-01-01

Congenital bilateral upper eyelid eversion is a rare condition and the definite cause is not known. It is often seen in Black babies or babies with Down's syndrome. With early diagnosis and appropriate treatment, the condition can be managed without surgery. We report a case of congenital upper eyelid eversion in an otherwise healthy Caucasian neonate, born by normal vaginal delivery. The case responded well to conservative treatment, including eyelid repositioning, lubricants, antibiotic ointment, and eyelid patching.

Growth and development of permanent teeth germ of transplacental Yu-Cheng babies in Taiwan

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

Lan, Shoujen; Yen, Yeayin; Ko, Yingchin

This paper is intended to present a study of transplacental Yu-Cheng babies in Taiwan. The focus of the study is to demonstrate how a contaminated food source can affect the growth and development of permanent teeth germ in children. A sporadic outbreak of a peculiar skin disease was reported in Japan in October of 1968. An epidemiological study revealed the outbreak of this disease was caused by contaminated Kanemi rice oil. This episode of rice oil poisoned with polychlorinated biphenyls (PCB) was the first reported outbreak of PCB poisoning in the world. A second episode occurred in central Taiwan elevenmore » years after the Japanese episode. Registered data from the Taiwan Provincial Government Health Department reported 1,843 cases in 1980. Of this group, more than 800 women were child-bearing age and most of these women would or soon would be married and pregnant. The offsprings of these women were in danger, because it has been proven that PCB intoxication could affect the fetus. These babies, only contaminated through the placenta, are called PCB transplacental Yusho babies in Japan and PCB transplacental Yu-Cheng babies in Taiwan. Babies with PCB poisoning could have Fetal PCB syndrome (FPS) and may have retarded eruption of permanent teeth and other anomalies such as reduced numbers of teeth and abnormal shaped roots. The study of transplacental Yu-Cheng babies is an important public health issue for Taiwan. Although there may be other issues, this study focuses only on the growth and development of permanent teeth of those babies affected by PCB transplacental contamination.« less

Once Baby Arrives

MedlinePlus

... meat, poultry, seafood, and eggs Pets, such as dogs, cats, turtles, snakes, birds, and lizards. Soil Washing ... Not able to keep anything down due to vomiting In these cases, take your baby to a ...

Contextual influences on ethnic identity formation: a case study of second-generation Korean Americans Baby Boomers in midlife.

PubMed

Park, Linda S

2015-03-01

This paper details a study on ethnic identity in midlife, illuminating identity formation as a complex life course phenomenon. The study addresses the importance of ethnic identity in understanding the experiences of racial and ethnic Baby Boomers as both recipients of care and as caregivers to their aging parents (first generation immigrants). Using a case study of second-generation Korean American Baby Boomers, the primary aims of this study are: (a) to explore how the relationship between age and race/ethnicity influences identity formation, and (b) how contexts influence ethnic identity formation. Findings reveal that cumulative experiences over earlier developmental years resulted in resolutions to appreciate their ethnic identity at midlife. Increasing racial and ethnic diversity in the U.S., combined with the large number of aging Baby Boomers, necessitate recognition of the cultural and racial differences within the Baby Boomer generation.

Decompressive hemicraniectomy in a space-occupying presentation of hemiconvulsion-hemiplegia-epilepsy syndrome.

PubMed

Berhouma, Moncef; Chekili, Ridha; Brini, Ines; Kchir, Nidhameddine; Jemel, Hafedh; Bousnina, Souad; Khaldi, Moncef

2007-12-01

A case of an acute life-threatening presentation of hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome requiring an urgent decompressive hemicraniectomy is described. A 9 month-old baby had a status epilepticus following a sustained fever, leading to a comatose state and a right pupillary dilatation associated with a left hemiplegia. The MRI showed a swelling right hemisphere with marked temporal herniation. The baby underwent a decompressive right hemicraniectomy with temporal cortical biopsies. The post-operative course was favourable. The histological findings were unspecific, showing a gliotic spongiosis with disseminated granular cells. The post-operative MRI depicted a right hemisphere atrophy. To our knowledge, a space-occupying presentation of HHE syndrome requiring surgical decompression has never been described before while only a few reports dealt with the neuropathological aspects of this syndrome.

Rett Syndrome

MedlinePlus

Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma.

PubMed

Verloes, A; Hermanns-Lê, T; Lesenfants, S; Lombet, J; Lamotte, P J; Crèvecoeur-Liégeois, C; Duchesne, B; Piérard, G E

1999-10-29

We report on a child with a generalized skin disorder associated with other minor anomalies. At birth, the child presented as a collodion baby, with patchy erythema, generalized irregular dermal atrophy, alopecia, absent eyelashes and eyebrows, and conjunctival pannus. He also had hypertelorism, prominent nasal root, large mouth, micrognathia, brachydactyly, syndactyly involving all interdigital spaces, and camptodactyly of fingers III-V. The hyperkeratotic membrane thinned progressively, leaving a mottled reticulated skin atrophy, with patchy areas of yellowish hyperpigmentation and papyraceous areas. Hair and nails were dystrophic. Mental development was borderline normal. The histological hallmarks of the skin manifestations combined orthokeratotic hyperkeratosis and marked atrophy of the dermis. The dermal extracellular matrix was immature, and factor XIII-a positive dendrocytes were rare and globular rather than dendritic. We frame as a hypothesis that the disease is due to or associated with a defect in maturation of a subset of dermal dendrocytes during fetal life. This entity may be designed as the koraxitrachitic syndrome (kappaomicronrhoalphaxi:grapnel- taurhoalphachiiotatauepsilonsigma: roughness) Copyright 1999 Wiley-Liss, Inc.

Learning about Down Syndrome

MedlinePlus

... for the mothers of infants with Down syndrome. Intelligence in individuals with Down syndrome ranges from low ... is not possible to tell the level of intelligence a baby with Down syndrome will have. All ...

Baby swimming and respiratory health.

PubMed

Nystad, Wenche; Håberg, Siri E; London, Stephanie J; Nafstad, Per; Magnus, Per

2008-05-01

To estimate the effect of baby swimming in the first 6 months of life on respiratory diseases from 6 to 18 months. We used data from The Norwegian Mother and Child Cohort Study (MoBa) conducted by the Norwegian Institute of Public Health in children born between 1999 and 2005 followed from birth to the age of 18 months (n = 30,870). Health outcomes: lower respiratory tract infections (LRTI), wheeze and otitis media between 6 and 18 months of age. baby swimming at the age of 6 months. The effect of baby swimming was estimated by logistic regression analysis adjusting for potential confounders. About 25% of the children participated in baby swimming. The prevalence of LRTI was 13.3%, wheeze 40.0% and otitis media 30.4%. Children who were baby swimming were not more likely to have LRTI, to wheeze or to have otitis media. However, children with atopic mothers who attended baby swimming had an increased risk of wheeze, adjusted odds ratios (aOR) 1.24 (95% CI 1.11, 1.39), but not LRTI or otitis media. This was also the case for children without respiratory diseases before 6 months aOR 1.08 (95%CI 1.02-1.15). Baby swimming may be related to later wheeze. However, these findings warrant further investigation.

Down syndrome birth weight in England and Wales: Implications for clinical practice.

PubMed

Morris, Joan K; Cole, Tim J; Springett, Anna L; Dennis, Jennifer

2015-12-01

The aim of this study was to determine if syndrome-specific birth weight charts were beneficial for babies with Down syndrome in England and Wales. Birth weights of 8,825 babies with Down syndrome born in England and Wales in 1989-2010 were obtained from the National Down Syndrome Cytogenetic Register. Birth weight centiles for 30-42 weeks gestation by sex were fitted using the LMS method and were compared to those for unaffected babies from the UK-WHO growth charts. For babies born with Down syndrome the median birth weight from 37 to 42 weeks was 2,970 g (10th-90th centile: 2,115-3,680) for boys and 2930 g (2,100-3,629) for girls, and the modal age of gestation was 38 weeks, 2 weeks earlier than for unaffected babies. At 38 weeks gestation they were only slightly lighter than unaffected babies (159 g for boys and 86 g for girls). However at 40 weeks gestation the shortfall was much greater (304 g and 239 g, respectively). In neonates with Down syndrome there is little evidence of growth restriction before 38 weeks gestation, so up to this age it is appropriate to use the UK-WHO birth weight charts. Thereafter birth weight is below that of unaffected babies and it should be plotted on the UK Down syndrome growth charts. © 2015 Wiley Periodicals, Inc.

Unexpected infant death due to hypoplastic left heart syndrome: a case report.

PubMed

Hayashizaki, Yoshie; Usui, Kiyotaka; Moriya, Takuya; Hashiyada, Masaki; Usui, Akihito; Hosokai, Yoshiyuki; Kawasumi, Yusuke; Saito, Haruo; Funayama, Masato

2011-11-01

A female infant was found unresponsive at home. The mother alleged that she delivered the baby at home 13 days prior to the death. The mother did not have any prenatal examinations during the pregnancy and the infant was not examined by a doctor until death. The autopsy revealed that the cause of death was hypoplastic left heart syndrome (HLHS) and the infant's chest showed bilateral breast enlargement. Forensic pathologists may encounter very rare pathological findings with unexpected infant deaths. Some, like HLHS, are serious congenital heart defects related to the cause of death, and others are unique phenomena unrelated to the cause of death such as breast swelling and discharge called "witch's milk." In this case, we observed both findings. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

The Genetics and Evolution of Human Skin Color: The Case of Desiree's Baby

ERIC Educational Resources Information Center

Schneider, Patricia

2004-01-01

This case explores the genetics and evolution of skin color, using a short story by Kate Chopin called "Desiree's Baby" as a starting point. Students read the story and discuss a series of questions probing the genetics of the family in the tale. Students then read an article about the evolution of skin color and write an essay analyzing the…

Bertolotti's syndrome: a case report.

PubMed

Mitra, Raj; Carlisle, Mark

2009-01-01

A case report and literature review is presented. To review relevant data for the management of Bertolotti's syndrome and to determine whether the transverse process-ilium articulation may be a pain generator. Bertolotti's syndrome is associated with axial low back pain secondary to arthritic changes; the pain generator in the disorder is unclear. We present a case report of symptomatic Bertolotti's syndrome managed with intra-articular steroid injections. A patient with Bertolotti's syndrome had significant relief of axial pain after steroid injection of the ilium-transverse process articulation. Steroid therapy may be a non-surgical alternative for the treatment of symptomatic Bertolotti's syndrome.

Gender discrimination weighs heavily down on babies.

PubMed

Koshy, L M

1995-12-30

During a pediatric conference in New Delhi, India, physicians compared their experiences with various diseases to the body of knowledge contained in Western-oriented medical textbooks. One physician noted that the most important longterm intervention to prevent low birth weight babies and congenital malformations is social and involves reducing discrimination against women in India. Many childhood disorders, such as thalassemia, can be prevented by proper genetic screening. Children with thalassemia depend upon blood transfusions to survive, yet they can contract serious and life-threatening illness from an unsafe blood supply. Another physician implicated improper handling by parents in habit disorders such as thumb sucking. A report on childhood epilepsy noted that 20% of the cases are resistant to therapy. A session on nephrotic syndrome relayed the practical experiences of the pediatricians. The fact that this syndrome recurs until puberty and, thus, requires longterm management makes it an important pediatric topic. Asthma was described as a condition which is increasing and which parents are afraid to acknowledge. Another physician suggested adding childbirth to the list of medical emergencies in India, since 75% of them are attended by untrained personnel who may contribute to the incidence of death from neonatal tetanus.

[Floppy baby with macrocytic anemia and vegan mother].

PubMed

Schlapbach, L J; Schütz, B; Nuoffer, J M; Brekenfeld, C; Müller, G; Fluri, S

2007-08-29

We report the case of a 7 month-old girl that presented with acute anemia, generalized muscular hypotonia and failure to thrive. Laboratory evaluation revealed cobalamin deficiency, due to a vegan diet of the mother. The clinical triad of an acquired floppy baby syndrome with megaloblastic anemia and failure to thrive is pathognomic for infantile cobalamin deficiency. Neurological abnormalities are often irreversible and may be associated with delayed myelinization in the MRI. A normal cobalamin level in maternal serum and absence of anemia do not exclude subclinical deficiency. If cobalamin deficiency is suspected, e.g. in pregnant women on vegan diet, urinary methylmalonic acid excretion and plasma homocysteine levels should be determined and cobalamin substitution should be started at an early stage to avoid potentially irreversible damage of the fetus.

Sick-visit immunizations and delayed well-baby visits.

PubMed

Robison, Steve G

2013-07-01

Giving recommended immunizations during sick visits for minor and acute illness such as acute otitis media has long been an American Academy of Pediatrics/Advisory Committee on Immunization Practice recommendation. An addition to the American Academy of Pediatrics policy in 2010 advised considering whether giving immunizations at the sick visit would discourage making up missed well-baby visits. This study quantifies the potential tradeoff between sick-visit immunizations and well-baby visits. This study was a retrospective cohort analysis with a case-control component of sick visits for acute otitis media that supplanted normal well-baby visits at age 2, 4, or 6 months. Infants were stratified for sick-visit immunization, no sick-visit immunization but quick makeup well-baby visits, or no sick-visit immunizations or quick makeup visits. Immunization rates and well-baby visit rates were assessed through 24 months of age. For 1060 study cases, no significant difference was detected in immunization rates or well-baby visits through 24 months of age between those with or without sick-visit immunizations. Thirty-nine percent of infants without a sick-visit shot failed to return for a quick makeup well-baby visit; this delayed group was significantly less likely to be up-to-date for immunizations (relative risk: 0.66) and had fewer well-baby visits (mean: 3.8) from 2 through 24 months of age compared with those with sick-visit shots (mean: 4.7). The substantial risk that infants will not return for a timely makeup well-baby visit after a sick visit should be included in any consideration of whether to delay immunizations.

Aggressive posterior retinopathy of prematurity in large preterm babies in South India.

PubMed

Shah, Parag K; Narendran, Venkatapathy; Kalpana, Narendran

2012-09-01

To describe aggressive posterior retinopathy of prematurity (APROP) in a subset of premature babies, having gestational age (GA) of ≥28 weeks and birth weight (BW) of ≥1000 g. Retrospective observational case series. Case records of 99 babies, who were diagnosed to have APROP between July 2002 and October 2010 were reviewed. Fundus fluorescein angiography (FFA) was carried out in 19 babies. The mean GA was 31.7 weeks (range 28-35 weeks) and mean BW was 1572 g (range 1000-2310 g). All these babies received supplemental unblended oxygen 3 days or longer after birth. Of the 52 babies who had an eye exam in the neonatal intensive care unit prior to discharge, 35 babies had loss of vascularised retina from zone II to zone I and four babies from zone III to zone I, when examined as an outpatient. FFA revealed large geographic areas of vaso-obliteration (more than 30 disc areas) posterior to the shunt vessels within vascularised retina. Features of severe capillary bed loss in the vascularised retina were seen in our cases. Oxygen could be a precipitating factor in causing this retinopathy of prematurity in large babies.

Ocular abnormalities in congenital Zika syndrome: a case report, and review of the literature.

PubMed

Guevara, Jade Gieseke; Agarwal-Sinha, Swati

2018-06-09

As the number of children with Zika virus-related complications grows, the long-term developmental trajectory and its effects on families are unknown. We present the first known case of congenital Zika syndrome seen at our institution with significant fundus findings. A 3-day-old Hispanic baby girl presented with severe microcephaly of 24 cm and temperature instability at birth. Her mother had traveled to Honduras early in pregnancy and testing of amniotic fluid was positive for Zika virus via polymerase chain reaction. A dilated fundus examination was significant for bilateral severe colobomatous chorioretinal atrophy of the macula and pigmentary changes. Neonatal magnetic resonance imaging revealed diffuse lissencephaly with decreased brain volume, atrophic corpus callosum and brainstem, periventricular calcifications, and ventriculomegaly of the lateral ventricles. Our patient, who presented with the first known case of congenital Zika syndrome in Northern Florida, demonstrated profound bilateral colobomatous chorioretinal atrophy of the macula. The ophthalmologic findings along with severe microcephaly emphasize the neurotropism of the Zika virus, and ultimately are indicative of poor developmental and visual prognosis for affected infants. With the increased prevalence of Zika virus, ophthalmologists should be aware of the associated findings and the importance of an eye-screening examination with a dilated fundus examination within 1 month of life of infants in which congenital Zika syndrome is suspected. A multidisciplinary care approach is essential for the care of affected infants and their families.

Baby Boy Jones Interactive Case-Based Learning Activity: A Web-Delivered Teaching Strategy.

PubMed

Cleveland, Lisa M; Carmona, Elenice Valentim; Paper, Bruce; Solis, Linda; Taylor, Bonnie

2015-01-01

Faced with limited resources, nurse educators are challenged with transforming nursing education while preparing enough qualified nurses to meet future demand; therefore, innovative approaches to teaching are needed. In this article, we describe the development of an innovative teaching activity. Baby Boy Jones is a Web-delivered, case-based learning activity focused on neonatal infection. It was created using e-learning authoring software and delivered through a learning management system.

Down syndrome birth weight in England and Wales: Implications for clinical practice

PubMed Central

Cole, Tim J.; Springett, Anna L.; Dennis, Jennifer

2015-01-01

The aim of this study was to determine if syndrome‐specific birth weight charts were beneficial for babies with Down syndrome in England and Wales. Birth weights of 8,825 babies with Down syndrome born in England and Wales in 1989–2010 were obtained from the National Down Syndrome Cytogenetic Register. Birth weight centiles for 30–42 weeks gestation by sex were fitted using the LMS method and were compared to those for unaffected babies from the UK‐WHO growth charts. For babies born with Down syndrome the median birth weight from 37 to 42 weeks was 2,970 g (10th–90th centile: 2,115–3,680) for boys and 2930 g (2,100–3,629) for girls, and the modal age of gestation was 38 weeks, 2 weeks earlier than for unaffected babies. At 38 weeks gestation they were only slightly lighter than unaffected babies (159 g for boys and 86 g for girls). However at 40 weeks gestation the shortfall was much greater (304 g and 239 g, respectively). In neonates with Down syndrome there is little evidence of growth restriction before 38 weeks gestation, so up to this age it is appropriate to use the UK‐WHO birth weight charts. Thereafter birth weight is below that of unaffected babies and it should be plotted on the UK Down syndrome growth charts. © 2015 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc. PMID:26407756

Generalized smooth muscle hamartoma with multiple congenital anomalies without the "Michelin tire baby" phenotype.

PubMed

Janicke, Elise C; Nazareth, Michael R; Rothman, Ilene L

2014-01-01

We report a patient with generalized smooth muscle hamartoma who presented with many of the variety of congenital anomalies that have been reported in babies with multiple symmetric circumferential rings of folded skin known as Michelin tire baby (MTB) syndrome, but our patient did not show the MTB phenotype. This constellation of findings in the absence of the MTB phenotype has not been previously reported. © 2014 Wiley Periodicals, Inc.

Baby sleeping bag and conventional bedding conditions--comparative investigations by infrared thermography.

PubMed

Sauseng, W; Kerbl, R; Thaller, S; Hanzer, M; Zotter, H

2011-09-01

Thermal stress is a risk factor for sudden infant death syndrome (SIDS). Recently, baby sleeping bags have been recommended as a preventive measure against SIDS. The aim of this study was to describe in which way the use of baby sleeping bags might influence thermoregulation of sleeping infants and maybe the incidence of SIDS. Body surface temperature was recorded by use of infrared thermography in 15 infants (median age 49 days). Recordings were done twice: after sleeping for 60 min under a blanket and after sleeping for 60 min in a baby sleeping bag. Temperature was recorded and compared for defined sites of body surface. Infants' mean body surface temperature as well as core temperature after sleeping in a baby sleeping bag did not show significant differences when compared to infants sleeping under a conventional blanket. Under controlled conditions, core temperature and mean body surface temperature are comparable, equally if using a baby sleeping bag or conventional bedding. However, under the more uncontrolled conditions of baby care at home, sleeping bags might provide a more constant temperature profile, while other bedding conditions may lead to significant variations of temperature pattern. © Georg Thieme Verlag KG Stuttgart · New York.

[Williams-Beuren syndrome (Williams syndrome). Case report].

PubMed

Miklós, Györgyi; Fekete, György; Haltrich, Irén; Tóth, Miklós; Reismann, Péter

2017-11-01

Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883-1888.

Turning breech babies after 34 weeks: the if, how, & when of turning breech babies.

PubMed

Cohain, Judy Slome

2007-01-01

Techniques for turning a term breech baby are 1). External cephalic version (ECV) using hands and ultrasound only; 2). Acupuncture point stimulation, by needle or moxibustion; 3). Chiropractic "Webster" technique; 4). Hypnotherapy; and 5). Special exercises. Fifty % of breech fetuses at 34 weeks will turn by themselves to head down by 38 weeks. Therefore, to be considered effective, a technique for turning breech must turn the baby and keep it turned more than 50% of the time. Only ECV with an experienced practitioner has been documented to have a greater than 50% success rate at 37 weeks; in 95% of cases the head stays down. Most women experience the fetus turning by hand as quick but very painful. "Unstable lie" is sometimes used as a baseless excuse for inducing labor after the baby turns from breech to head down. (judyslome@hotmail.com).

Concurrent Van der Woude syndrome and Turner syndrome: A case report.

PubMed

Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

2017-01-01

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

Alkaptonuria diagnosed in a 4-month-old baby girl: a case report

PubMed Central

Datta, Asok K; Mandal, Syamali; Dasgupta, Anindya; Ghosh, Tarun K

2008-01-01

The mother of a four month old female baby attended in the well baby clinic with the complaint of black staining of the diaper after few minutes of urination. The baby was born of a non consanguineous marriage, healthy and breast fed. Mother noticed that stain first at the age of two and half month. The urine when kept in a test tube for two hours turned black. Laboratory examination of urine revealed increased concentration of homogentisic acid. The patient was diagnosed as alkaptonuria. PMID:19014543

[Pseudo-Bartter syndrome--2 cases].

PubMed

Jóźwiak, Lucyna; Jaroszyński, Andrzej; Baranowicz-Gaszczyk, Iwona; Borowicz, Ewa; Ksiazek, Andrzej

2010-01-01

Bartter syndrome represents the group of renal disturbances characterized by hypokaliemia and metabolic alkalosis. Some diseases could display hypokalemic metabolic alkalosis without primary tubular dysfunction. These disorders are called pseudo-Bartter syndrome. In this paper we present 2 cases of pseudo-Bartter syndrome related among to other things to overuse of diuretic drugs.

[Gorlin-Goltz syndrome--a case report].

PubMed

Debski, Tomasz; Jethon, Józef

2010-06-01

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is an autosomal dominant syndrome caused by mutations found on chromosome 9. The syndrome is characterized by increased predisposition to develop a basal cell carcinoma and associated with multiorgan anomalies. To present a case of GGS and explain modern standards of care for patients with this syndrome. Authors report the case of a 36-year-old patient who was admitted to the Plastic Surgery Clinic due to numerous basal cell carcinomas. Previously patient underwent an orthopaedic, neurologic, dermatologic, stomatologic and surgery treatment due to particular anomalies which characterize this syndrome. Comprehensive interview and broadening of the diagnostics enabled to diagnose GGS and to introduce the appropriate treatment. GGS is a multidisciplinary problem and widespread knowledge of this syndrome could accelerate the diagnosis process. Early diagnosis of GGS allows to introduce the secondary prophylaxis and to apply the appropriate treatment to slow the progress of the syndrome.

Telomere length analysis in Down syndrome birth.

PubMed

Bhaumik, Pranami; Bhattacharya, Mandar; Ghosh, Priyanka; Ghosh, Sujay; Kumar Dey, Subrata

2017-06-01

Human reproductive fitness depends upon telomere chemistry. Maternal age, meiotic nondisjunction error and telomere length of mother of trisomic child are someway associated. Reports exhibiting maternal inheritance of telomere length in Down syndrome child are very scanty. To investigate this, we collected peripheral blood from 170 mothers of Down syndrome child and 186 age matched mothers of euploid child with their newly born babies. Telomere length was measured by restriction digestion - southern blotting technique. Meiotic nondisjunction error was detected by STR genotyping. Subjects are classified by age (old >35 years and young ˂35 years) and by meiotic error (MI and MII). Linear regression was run to explore the age - telomere length relationship in each maternal groups. The study reveals that with age, telomere erodes in length. Old MII mothers carry the shortest (p˂0.001), control mothers have the longest telomere and MI lies in between. Babies from older mother have longer telomere (p˂0.001) moreover; telomeres are longer in Down syndrome babies than control babies (p˂0.001). To conclude, this study represents not only the relation between maternal aging and telomere length but also explore the maternal heritability of telomere length in families with Down syndrome child. Copyright © 2017 Elsevier B.V. All rights reserved.

Rare case of nephrotic syndrome: Schimke syndrome.

PubMed

Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

2016-01-01

Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

Baby-Friendly Practices Minimize Newborn Infants Weight Loss.

PubMed

Procaccini, Diane; Curley, Ann L Cupp; Goldman, Martha

2018-04-01

It is accepted that newborns lose weight in the first few days of life. Baby-Friendly practices that support breastfeeding may affect newborn weight loss. The objective of this study were: 1) To determine whether Baby-Friendly practices are associated with term newborn weight loss day 0-2 in three feeding categories (exclusively breastfed, mixed formula fed and breastfed, and formula fed). 2) To determine whether Baby-Friendly practices increase exclusive breast feeding rates in different ethnic populations. This was a retrospective case-control study. Term newborn birth weight, neonatal weights days 0-2, feeding type, type of birth, and demographic information were collected for 1,000 births for the year before Baby-Friendly designation (2010) and 1,000 in 2013 (after designation). Ultimately 683 in the first group and 518 in the second met the inclusion criteria. Mean weight loss decreased day 0-2 for infants in all feeding types after the initiation of Baby-Friendly practices. There was a statistically significant effect of Baby-Friendly designation on weight loss for day 0-2 in exclusively breastfed infants (p < 0.01) after controlling for birth weight. Exclusive breast feeding increased in all ethnic groups after Baby-Friendly practices were put in place. There was a decrease in mean weight loss day 0-2 regardless of feeding type after Baby-Friendly designation. Exclusive breast feeding increased in the presence of Baby-Friendly practices.

Neonatal risk factors for cerebral palsy in very preterm babies: case-control study.

PubMed Central

Murphy, D. J.; Hope, P. L.; Johnson, A.

1997-01-01

OBJECTIVE: To identify neonatal risk factors for cerebral palsy among very preterm babies and in particular the associations independent of the coexistence of antenatal and intrapartum factors. DESIGN: Case-control study. SETTING: Oxford health region. SUBJECTS: Singleton babies born between 1984 and 1990 at less than 32 weeks' gestation who survived to discharge from hospital: 59 with cerebral palsy and 234 randomly selected controls without cerebral palsy. MAIN OUTCOME MEASURES: Adverse neonatal factors expressed as odds ratios and 95% confidence intervals. RESULTS: Factors associated with an increased risk of cerebral palsy after adjustment for gestational age and the presence of previously identified antenatal and intrapartum risk factors were patent ductus arteriosus (odds ratio 2.3; 95% confidence interval 1.2 to 4.5), hypotension (2.3; 1.3 to 4.7), blood transfusion (4.8; 2.5 to 9.3), prolonged ventilation (4.8; 2.5 to 9.0), pneumothorax (3.5; 1.6 to 7.6), sepsis (3.6; 1.8 to 7.4), hyponatraemia (7.9; 2.1 to 29.6) and total parenteral nutrition (5.5; 2.8 to 10.5). Seizures were associated with an increased risk of cerebral palsy (10.0; 4.1 to 24.7), as were parenchymal damage (32; 12.4 to 84.4) and appreciable ventricular dilatation (5.4; 3.0 to 9.8) detected by cerebral ultrasound. CONCLUSION: A reduction in the rate of cerebral palsy in very preterm babies requires an integrated approach to management throughout the antenatal, intrapartum, and neonatal periods. PMID:9040385

[Two cases of Costello syndrome].

PubMed

Masuyama, Tatsuo; Matsuo, Muneaki; Kuno, Tateo; Kitsuki, Kyoko; Kan, Yuka; Ishii, Kiyohisa; Ohtani, Yoshinobu

2003-01-01

We report two unrelated cases of Costello syndrome, presenting with poor postnatal growth, mild mental retardation, poor feeding, curly hair, coarse characteristic face, loose skin, hypotonia, and cardiac involvement. Nasal papilloma and acanthosis nigricans were the most characteristic features of this syndrome. Both cases had atrial fibrilation from infancy to early childhood. One patient had hypertonia in the lower extremities and pes equinovarus, while the other had hypotonia and pes planovalgus.

[Bilateral "crocodile tears syndrome" associated with Melkersson-Rosenthal syndrome--case report].

PubMed

Owecki, Michał K; Kapelusiak-Pielok, Magdalena; Kowal, Piotr; Kozubski, Wojciech

2006-01-01

We present a rare case of bilateral crocodile tears syndrome (CTS) in the course of Melkersson-Rosenthal syndrome. Melkersson-Rosenthal syndrome is characterised by a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue. The classic triad is infrequent and oligosymptomatic variants are seen more frequently. CTS is a rare complication of facial nerve paralysis characterised by inappropriate lacrimation on the side of the palsy in response to salivary stimuli. It results from aberrant reinnervation of the lacrimal gland by salivary parasympathetic fibres. The therapeutic approach for an acute bout of Melkersson-Rosenthal syndrome consists mainly of steroid administration. CTS management is composed of anticholinergic drugs and surgical procedures. Botulin toxin injection into the lacrimal gland is the most modern therapeutic option. In the case presented CTS developed in a 50-year-old man after 5 incidents of facial palsy due to Melkersson-Rosenthal syndrome. The case deserves attention due to the rarity of the observed symptoms and signs.

[Occupational carpal tunnel syndrome: 27 cases].

PubMed

Slimane, Neila Ben; Elleuch, Mohamed; Gharbi, Ezzedine; Babay, Habib; Hamdoun, Moncef

2010-09-01

Carpal tunnel syndrome is the most frequent of tunnel syndromes in the field of the professional sphere. It is related to repetitive movements of flexion-extension of the wrist and fingers or to a support on the heel of the hands. To determine the posts in a risk and to specify the modalities of guaranteed reimbursement of professional carpal tunnel syndrome. A retrospective and descriptive study of 27 medical files of employees indemnified for professional carpal tunnel syndrome registered in the medical control services of the social security office in charge of medical insurance of Tunis and Sousse during a period of 10 years (1995-2004). There were 24 women and 3 men with the average age of 40 years all occupying posts in a risk. Their average time of service is 15 years. Tow-thirds of them work in the clothing and textile industry. The attack is bilateral in 13 cases. Nightly acroparaesthesia rules the clinical rate (44.44% of cases). Motor disorders are noted in the quarter of cases. The electromyogram had confirmed diagnosis in all of cases. The previous state study put in evidence the antecedent of carpal tunnel syndrome in 5 cases and diabetes in one case. Twenty-one patients had profit of permanent partial incapacity with a rate varying from 3 to 25%. Five had got a transfer of working place and one stayed in the same post with a half-time work. The professional origin of carpal tunnel syndrome must be called up in front of an activity in a risk. The reparation is done according to picture 82 of occupational diseases.

Ecosystem and human health impacts from increased corn production: vulnerability assessment of exposure to high nitrate concentrations in groundwater and blue baby syndrome

NASA Astrophysics Data System (ADS)

Garcia, V.; Cooter, E. J.

2013-12-01

The Renewable Fuel Standard (RFS) requires oil refiners to reach a target of 15 billion gallons of corn-based ethanol by 2022. However, there are concerns that the broad-scale use of corn as a source of ethanol may lead to unintended economic and environmental consequences. This study applies the geophysical relationships captured with linked meteorological, air quality and agriculture models to examine the impact of corn production before enactment of the RFS in 2002 and at the height of the RFS targets in 2022. In particular, we investigate the probability of high-levels of nitrate in groundwater resulting from increased corn production and then relate this vulnerability to the potential for infants to acquire Methemoglobinemia, or 'Blue Baby Syndrome'. Blue Baby Syndrome (BBS) is a potentially fatal condition that occurs when the hemoglobin (Fe2+) in an infant's red blood cells is oxidized to methemoglobin (Fe3+), preventing the uptake of oxygen from the baby's blood. Exposure to high levels of nitrate in groundwater occur near the intersection of areas where surface water can more readily leach into shallow aquifers, wells are the main source of drinking water, and high nitrogen inputs exist. We use a coupled meteorological, agricultural and air quality model to identify areas vulnerable to increased nitrate contamination and associated risk to acquiring BBS. We first verify the relationship between predictive variables (e.g., nitrogen deposition and fertilization rates, landcover, soils and aquifer type) and nitrate groundwater levels by applying a regression model to over 800 nitrate measurements taken from wells located throughout the US (Figure 1). We then apply the regression coefficients to the coupled model output to identify areas that are at an increased risk for high nitrate groundwater levels in 2022. Finally, we examine the potential change in risk for acquiring BBS resulting from increased corn production by applying an Oral Reference Dose (Rf

Diapering Your Baby

MedlinePlus

... prefold diapers) a container of warm water and cotton balls (for babies with sensitive skin) or a ... ability to roll. Wiping Using the wet washcloth, cotton balls, or baby wipes, gently wipe your baby ...

Breastfeeding Your Baby

MedlinePlus

... ASKED QUESTIONS FAQ029 LABOR, DELIVERY, AND POSTPARTUM CARE Breastfeeding Your Baby • How long should I breastfeed my baby? • How does breastfeeding benefit my baby? • How does breastfeeding benefit me? • ...

Baby Boomers and Community College: A Study of Motivations

ERIC Educational Resources Information Center

Cunningham, DiAnne H.

2009-01-01

Scope and method of study. This descriptive case study was designed to describe the critical issues surrounding Baby Boomers and their motivations to attend community college, in addition to their perceptions of learning and curriculum needs. Additionally the study explored what these Baby Boomers plan to do after completing their courses and…

[3M syndrome: case history].

PubMed

Fehlow, P

2006-01-01

This case report shall draw attention to a still little known syndrome of primordial nanism. It is important for the differential diagnosis on the genetic counselling, specially with regard to the Silver-Russell syndrome. A striking mentally retarded (I. Q. 54) 9-year-old boy with primordial proportionate short stature exhibited characteristic features of the 3M syndrome (MMM): pseudohydrocephalic dolichocephalia, short neck with protruding muscles, transversal furrow in the lower thorax, muscular hypotonia with joint laxity - "falling hands", radiographic manifestations included the tall vertebral bodies and gracile long bones. Furthermore there was a dent temporal at the left. But this feature is found on many other syndromes with nanosomia frontotemporal, less frequent the low position of the navel on these patients. The karyotype was normal, the case apparently sporadic. MMM can be differentiated from other types of nanosomia by clinical criterias; a molecular genetic proof is not yet possible.

Bringing Your Baby Home

MedlinePlus

... for Educators Search English Español Bringing Your Baby Home KidsHealth / For Parents / Bringing Your Baby Home What's ... recall your baby's seemingly endless crying episodes. The Home Front Introducing your baby to others at home ...

Auricular anthropometry of Hong Kong Chinese babies.

PubMed

Fok, T F; Hon, K L; So, H K; Ng, P C; Wong, E; Lee, A K Y; Chang, A

2004-02-01

To provide a database of the auricular measurements of Chinese infants born in Hong Kong. Prospective cross-sectional study. A total of 2384 healthy singleton, born consecutively at the Prince of Wales Hospital and the Union Hospital from October 1998 to September 2000, were included in the study. The range of gestation was 33-42 weeks. Measurements included ear width (EW), ear length (EL) and ear position (EP). The data show generally higher values for males in the parameters measured. When compared with previously published data for Caucasian and Jordanian term babies, Chinese babies have shorter EL. The ears were within normal position in nearly all our infants. The human ear appears to grow in a remarkably constant fashion. This study establishes the first set of gestational age-specific standard of the ear parameters for Chinese new-borns, potentially enabling early syndromal diagnosis. There are significant inter-racial differences in these ear parameters.

A Journey with Klinefelter Syndrome

ERIC Educational Resources Information Center

Cover, Virginia Isaacs

2006-01-01

In this article, the author shares her experience having a son with Klinefelter Syndrome. Klinefelter Syndrome, also known as 47,XXY, is estimated to occur in 1 out of 600 males, making it the most common chromosomal disorder. Babies with Klinefelter Syndrome rarely have any physical differences that are detectable, which is the reason that so few…

Congenital leukemoid reaction followed by fatal leukemia. A case with Down's syndrome.

PubMed

Lin, H P; Menaka, H; Lim, K H; Yong, H S

1980-10-01

A serial clinical, hematologic, and cytogenetic study was done on a baby with Down's syndrome in whom a myeloid leukemoid reaction developed at birth that spontaneously regressed within a month only to relapse two years later to an acute undifferentiated stem cell leukemia. He died 1 1/2 months after onset. The unresolved controversy of the diagnosis of the congenital leukemia-like state is discussed. The importance of following up such patients with apparent remission of their congenital leukemia-like disorder is emphasized.

7 CFR 319.56-43 - Baby corn and baby carrots from Zambia.

Code of Federal Regulations, 2011 CFR

2011-01-01

... 7 Agriculture 5 2011-01-01 2011-01-01 false Baby corn and baby carrots from Zambia. 319.56-43... § 319.56-43 Baby corn and baby carrots from Zambia. (a) Immature, dehusked “baby” sweet corn (Zea mays L..., which is a field, where the corn has been grown must have been inspected at least once during the...

[Jerusalem syndrome - a case report].

PubMed

Poleszczyk, Anna; Swiecicki, Łukasz

2013-01-01

The aim of the paper was to present the case of a patient who developed acute psychotic symptoms on her visit to Jerusalem. The analysis of the clinical case and medical history. The presented 62-year-old women with a history of previous psychiatric disorder arrived with her husband to Jerusalem as a part of organised touristic group. She developed acute psychotic reaction through some stages characteristic for the third type of Jerusalem syndrome. Symptoms resolved completely soon after returning to Poland and admission to the hospital where an antipsychotic treatment was performed. Despite the rare occurrence of this phenomenon, it is worth noting that we can divide Jerusalem syndrome into three types depending on its clinical course, patient's history of previous psychiatric disorders and this division has some clinical implications. This syndrome can be also considered in the context of some factors connected with travelling in general which may be responsible for psychiatric disturbances occurring among travelers. The course of psychiatric disturbances in the presented patient resembled the third type of Jerusalem syndrome despite her past psychiatric history and probably travelling caused her decompensations. In clinical practice we have to remember that in case of the patients with a known psychiatric history, clinical evaluation may be useful before travelling. In previously healthy patients developing the third type of the Jerusalem syndrome early intervention and separation from Jerusalem and its holy places and their contact with family are crucial for soon recovery.

Swyer-James syndrome associated with Noonan syndrome: report of a case.

PubMed

Lin, Y M; Huang, W L; Hwang, J J; Ko, Y L; Lien, W P

1995-12-01

A 28-year-old man with Noonan syndrome associated with unilateral hyperlucent lung is reported. He had the typical craniofacial appearance and short stature of Noonan syndrome; he had mild mental retardation, atrophic testis, mild funnel chest and kyphosis. cardiovascular abnormalities included asymmetric hypertrophic cardiomyopathy and a significantly different caliber of the left and right pulmonary arteries. The unilateral hyperlucent lung was shown to result from acquired nondestructive emphysema caused by nonvalvular obstruction of the bronchi (Swyer-James syndrome or Macleod's syndrome). To the authors' knowledge, this is the first reported case of Noonan syndrome associated with Swyer-James syndrome.

Mirror Syndrome assocciated with Patau Syndrome: A Case Report.

PubMed

Pais, Ana Sofia; Areia, Ana Luísa Fialho Amaral de; Franco, Sofia Margarida Perienes; Fonseca, Etelvina Morais Ferreira; Moura, José Paulo Achando Silva

2018-05-16

Mirror syndrome is an unusual pathological condition in which maternal edema in pregnancy is seen in association with severe fetal and/or placental hydrops. The disease can be life-threatening for both the mother and the fetus. The pathogenesis is poorly understood, and may be confused with preeclampsia, even though distinguishing features can be identified. We report a rare case of mirror syndrome with maternal pulmonary edema associated with fetal hydrops due to Patau syndrome. Thieme Revinter Publicações Ltda Rio de Janeiro, Brazil.

Lemierre syndrome: two cases and a review.

PubMed

Syed, Mohammed Iqbal; Baring, David; Addidle, Michael; Murray, Craig; Adams, Calum

2007-09-01

Lemierre syndrome is usually caused by an acute oropharyngeal infection in previously healthy young adults, resulting in thrombophlebitis of the internal jugular vein, leading to metastatic septic embolization and bacteraemia. The usual organism is Fusobacterium necrophorum. Lemierre syndrome, not so long ago labeled as the "forgotten disease," is on the rise. Today with increasing antibiotic-resistant organisms, and decreasing awareness of the syndrome, subsequent re-emergence of this "forgotten disease" is becoming more common in clinical settings. Lemierre syndrome has significant morbidity. Cranial nerve complications associated with the condition have been increasingly diagnosed in the last few years. Looking back at literature on Lemierre syndrome, there have been review articles in medical and microbiology journals but rarely in otolaryngology journals. By presenting our cases we demonstrate the diverse presentations and severity of the illness. A review of the literature and a case report on two cases seen in our institution in the last year are presented. Each of these had varied presentations and neurologic complications-one developed 9th to 12th cranial nerve palsies and Horner syndrome, which have not been described in previous literature, and the other developed polyneuropathy and a frontal lobe infarct among other multisystem complications. Diagnosis of Lemierre syndrome is not always straightforward as clinical features are variable and blood cultures are often negative. Awareness of the syndrome and a high degree of suspicion are needed.

Amitriptyline poisoning of a baby: how informative can hair analysis be?

PubMed

Allibe, Nathalie; Eysseric-Guerin, Hélène; Kintz, Pascal; Bartoli, Mireille; Bost-Bru, Cécile; Grenier, Florian; Scolan, Virginie; Stanke-Labesque, Françoise

2015-04-01

We reported a case of a 6-month-old baby girl who was hospitalized in the pediatric emergency for central nervous system disorders then coma. Toxicology analysis showed the presence of amitriptyline (AMI) and its metabolite nortriptyline (NOR) in blood and urine of the baby. Additional investigations suggested a shaken baby syndrome. Given the family context, a judge ordered hair tests for both the child and his parents to document drug exposure. A liquid chromatography tandem mass spectrometric (LC-MS/MS) method was then developed to quantify AMI and NOR in hair. After decontamination and segmentation, 20 mg of hair was incubated overnight at 55 °C in methanol (MeOH). The LC-MS/MS method used an online solid phase extraction and the analysis was performed using two transitions per compound. The LOQ and LOD for the two compounds were estimated at 0.0075 ng/mg and 0.005 ng/mg respectively. All hair segments tested for both parents were negative. For the baby two strands of hair were collected one day after the acute intoxication for the first and 5 weeks later for the second. The first strand was not decontaminated before analysis to avoid losing specimen. The high and relatively homogenous concentrations of AMI (with a range of value from 6.65 to 9.69 ng/mg) and NOR (with a range of value from 7.12 to 8.96 ng/mg) measured suggested that contamination could have occurred. The analysis of the second strand after decontamination allowed to detect AMI and NOR in all hair segments. The obtained values varied between 0.54 and 1.41 ng/mg for AMI and between 1.26 and 4.00 ng/mg for NOR. These results supported the hypothesis of a chronic exposure during several months before hair collection with regular increase. However a single overdose could not be totally excluded. The interpretation of results must take into account the pharmacological and physiological parameters of hair of the children. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94

PubMed Central

Busby, A.; Dolk, H.; Collin, R.; Jones, R; Winter, R.

1998-01-01

AIM—To describe the prevalence of anophthalmia/microphthalmia in babies born in England 1988-94, as well as their overall survival, and the incidence of associated eye and non-eye malformations; to determine the usefulness of different sources of medical and health service information for establishing a retrospective register of anophthalmia/microphthalmia.
METHODS—Multiple sources for initial (retrospective) case ascertainment were surveyed, followed by questionnaires to clinicians to establish severity, associated malformations, and aetiology for England, 1988-94. The population surveyed was all births in England for this time period (4 570 350 births). Cases included live births, stillbirths, or terminations after prenatal diagnosis of congenital anomaly, with anophthalmia/microphthalmia, with or without other malformations and syndromes. Trisomy 13 was subsequently excluded.
RESULTS—The proportion of cases notified by any one information source was not more than 26% (Office for National Statistics Register 22%, paediatricians 26%, district sources 25%). Sixty nine per cent of cases (51% of severe cases) were notified by only one source. A total of 449 cases were reported, prevalence 1.0 per 10 000 births. The prevalence was stable over time, although the proportion notified by clinicians rose in more recent years. Thirty four per cent of affected babies had mild microphthalmia. Of those with severe anophthalmia/microphthalmia, 51% were bilateral, other eye malformations were present in 72%, non-eye malformations in 65%, and a "known aetiology" was attributed in 22%. Three quarters of those severely affected survived infancy.
CONCLUSIONS—Despite high response rates from the sources of information contacted, the lack of duplication between sources indicates the difficulties of retrospective ascertainment and the need for multiple sources when establishing a register. Anophthalmos/microphthalmos is usually associated with other malformations. Most

Baby Sling: Is It Safe?

MedlinePlus

Healthy Lifestyle Infant and toddler health Is it safe to hold a baby in a baby sling? Answers from Jay L. Hoecker, M.D. A baby sling — a one-shouldered baby ... sling's weight minimum before placing your newborn in it. Keep your baby's airways unobstructed. Make sure your ...

Surrogate Motherhood II: Reflections after "Baby M."

ERIC Educational Resources Information Center

Schwartz, Lita Linzer

1988-01-01

Discusses the "Baby M" surrogate motherhood case which has produced heated debate in popular media, legal publications, and other professional journals. Summarizes arguments offered and reasoning behind actions of judiciary. (Author/ABL)

Baby Poop: What's Normal?

MedlinePlus

... by-color guide for newborns: Black or dark green. After birth, a baby's first bowel movements are ... of baby poop is known as meconium. Yellow-green. As the baby begins digesting breast milk, meconium ...

Can Babies Learn to Read? A Randomized Trial of Baby Media

ERIC Educational Resources Information Center

Neuman, Susan B.; Kaefer, Tanya; Pinkham, Ashley; Strouse, Gabrielle

2014-01-01

Targeted to children as young as 3 months old, there is a growing number of baby media products that claim to teach babies to read. This randomized controlled trial was designed to examine this claim by investigating the effects of a best-selling baby media product on reading development. One hundred and seventeen infants, ages 9 to 18 months,…

Crouzon's Syndrome: A Case Report

PubMed Central

Jyothsna, M; Ahmed, Syed Basheer; Lakshmi, K Sree

2013-01-01

ABSTRACT Crouzon's syndrome (CS) is a rare autosomal dominant condition with multiple mutations of the fibroblast growth factor receptor (FGFR2) gene, which accounts for 4.8% of all cases of craniosynostosis. It is characterized by premature closure of cranial sutures, cranial deformities, midface hypoplasia, relative mandibular prognathism, hypertelorism, proptosis, strabismus and short upper lip, crowding of teeth, pseudocleft or sometimes cleft palate and other associated abnormalities. The CS can vary in severity from mild presentation to severe forms involving multiple cranial sutures. We report a case of CS in 11-year-old boy. How to cite this article: Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KS, Crouzon's Syndrome: A Case Report. Int J Clin Pediatr Dent 2013;6(1):33-37. PMID:25206185

Crouzon's Syndrome: A Case Report.

PubMed

Kumar, G Ravi; Jyothsna, M; Ahmed, Syed Basheer; Lakshmi, K Sree

2013-01-01

Crouzon's syndrome (CS) is a rare autosomal dominant condition with multiple mutations of the fibroblast growth factor receptor (FGFR2) gene, which accounts for 4.8% of all cases of craniosynostosis. It is characterized by premature closure of cranial sutures, cranial deformities, midface hypoplasia, relative mandibular prognathism, hypertelorism, proptosis, strabismus and short upper lip, crowding of teeth, pseudocleft or sometimes cleft palate and other associated abnormalities. The CS can vary in severity from mild presentation to severe forms involving multiple cranial sutures. We report a case of CS in 11-year-old boy. How to cite this article: Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KS, Crouzon's Syndrome: A Case Report. Int J Clin Pediatr Dent 2013;6(1):33-37.

Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome.

PubMed

Balaji, Preetha; Balaji, S M

2017-01-01

Gingival fibromatosis with hypertrichosis syndrome is an extremely rare genetic condition characterized by profound overgrowth of hair and gums, as well as other variable features. Gingival fibromatosis is characterized by a large increase in the gingival dimension which extends above the dental crowns, covering them partially or completely. They were found to have a genetic origin, may also occur in isolation or be part of a syndrome, or acquired origin, due to specific drugs administered systemically. Congenital generalized hypertrichosis is a heterogeneous group of diseases with continuing excessive growth of terminal hair without androgenic stimulation. It has informally been called werewolf syndrome because the appearance is similar to that of a werewolf. Various syndromes have been associated with these features such as epilepsy, mental retardation, cardiomegaly, or osteochondrodysplasia. As so far very few cases have been reported in literature, we are reporting a series of three cases with management of the same. The excess gingival tissues, in these cases, were removed by conventional gingivectomy under general anesthesia. The postoperative result was uneventful and the patient's appearance improved significantly. Good esthetic result was achieved to allow patient to practice oral hygiene measures. Though this is not a serious condition clinically, psychosocial trauma cannot be neglected owing to the cosmetic disfigurement it produces.

"Syndrome in syndrome": Wernicke syndrome due to afferent loop syndrome. Case report and review of the literature.

PubMed

D'Abbicco, D; Praino, S; Amoruso, M; Notarnicola, A; Margari, A

2011-01-01

Wernicke syndrome is a rare neurological pathology due to a deficit in vitamin B1. The syndrome is common among alcohol abusers, patients with malignant tumor or gastrointestinal diseases, those who undergo hemodialysis or long-term peritoneal dialysis, pregnant women with hyperemesis, women who breast-feed, patients with hyperthyroidism or anorexia nervosa or gastric or jejunal-ileal bypass surgery for obesity, patients submitted to gastric surgery or prolonged total parenteral nutrition or prolonged intravenous therapy. We report a case of Wernicke syndrome due to afferent loop syndrome characterized by incoercible vomiting.

Successful application of preimplantation genetic diagnosis for Leigh syndrome.

PubMed

Unsal, Evrim; Aktaş, Yasemin; Uner, Ozge; BaltacI, Aysun; Ozcan, Sarp; Turhan, Feriba; Baltaci, Volkan

2008-11-01

To perform preimplantation genetic diagnosis (PGD) for a SURF1 gene mutation of the Leigh syndrome to transfer unaffected or carrier embryo/embryos. Case report. Clinical IVF laboratory. A couple carrying an nt769 G/A mutation that is associated with Leigh syndrome. Oocytes were fertilized by means of intracytoplasmic sperm injection. The resulting embryos were biopsied 3 days after fertilization. One blastomere was taken and whole-genome amplification was performed. Amplification of the mutation site was achieved by polymerase chain reaction (PCR) and restriction digestion was completed. Gel Imager was used to measure the digests of normal and mutant load. Embryo testing by means of PGD-PCR and pregnancy. Successful preimplantation genetic diagnosis for a SURF1 gene mutation and transfer of healthy or carrier embryos. Successful singleton pregnancy resulting in the delivery of healthy baby girl. We report the first case of successful PGD for Leigh syndrome resulting in delivery of a healthy newborn.

Gorlin-goltz syndrome: a rare case.

PubMed

Ganguly, Satyaki; Jaykar, Kranti C; Kumar, Rajesh; Jha, Abhijeet Kumar; Banerjee, P K

2015-01-01

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

Baby supplies you need

MedlinePlus

For the baby's clothes you will need: One-piece sleepers (4 to 6). Gown-types are the easiest for changing diapers and cleaning baby up. Mittens for the baby's hands to keep them from ... daytime outfits that snap (easiest for changing diapers ...

Trialling a shaken baby syndrome prevention programme in the Auckland District Health Board.

PubMed

Kelly, Patrick; Wilson, Kati; Mowjood, Aqeela; Friedman, Joshua; Reed, Peter

2016-02-19

To describe and evaluate a shaken baby prevention programme trialled in the Auckland District Health Board from January 2010, to December 2011. Development and implementation of the programme, telephone survey of a sample of caregivers and written survey of a sample of providers. At least 2,592 caregivers received the trial programme. 150 (6%) were surveyed by telephone a median of 6 weeks later. 128 (85%) remembered at least one key message, unprompted; most commonly "It's OK to walk away" (94/150, 63%). When asked, 92% had made a plan for what to do when frustrated and 63% had shared the information with others. Only 98/150 (65%) watched the programme DVD. Many said they already knew about the risks of shaking a baby, but still found the programme highly relevant. Thirty-one nurses were surveyed. There was a high degree of agreement that the programme was relevant. Barriers to programme delivery included time, workload and the documentation required. A shaken baby prevention programme adapted to New Zealand can be introduced in a District Health Board and is acceptable to caregivers and health professionals. Further research is needed to evaluate the content, mode of delivery and effectiveness of this programme.

Dandy Walker Syndrome with Tessier 7 Cleft-a Rare Case Report and a Surgical Note on the Use of Vermilion Flap and Lazy W-Plasty.

PubMed

Dhupar, Vikas; Kumar, Praveen; Akkara, Francis; Kumar, Ananth

2012-09-01

The Dandy-Walker syndrome is a malformation of the brain that involves the mal-development of the cerebellum, associated with a cystic enlargement of this area, and frequently hydrocephalus. This malformation occurs in ~1 in 30,000 babies. It is seen mostly in females. Developmental anomalies like cleft lip, cleft palate, and cardiac malformation, orthopaedic and urinary structural abnormalities may also occur in 30% of the individuals. We report a case of Dandy Walker syndrome with Tessier 7 facial cleft with paramedian cleft palate in a 6 month old child. Surgical methods used to correct this anomaly include commissuroplasty, myoplasty of the orbicularis oris, and closure of the cleft cheek. Authors report a vermilion square flap technique that combines a lower lip mucocutaneous vermilion border flap with a lazy W-plasty to ensure a natural commissure and skin closure.

[Clinical study of 12 cases with obstetric mirror syndrome].

PubMed

Wu, Lin-lin; Wang, Chen-hong; Li, Zhi-quan

2012-03-01

To discuss the clinical features, management, pregnancy outcome and prognosis of obstetric mirror syndrome. The clinical data of 12 cases with obstetric mirror syndrome at Shenzhen Maternity and Child Healthcare Hospital from April 2008 to December 2010 were collected to retrospectively analyze the clinical features, management, pregnancy outcome and prognosis. (1) ETIOLOGY: 12 cases with obstetric mirror syndrome included 9 cases of Bart's hydrops fetalis, 2 cases with fetal complicated congenital cardiac anomalies, and 1 case of unknown etiology. (2) Gestational age at diagnosis and at delivery: gestational age at diagnosis ranged from 28 to 36 weeks [mean (31.5 ± 4.7) weeks], and gestational age at delivery ranged from 28(+3) to 38 weeks [mean (32.9 ± 2.9) weeks]. There were no significant differences between the gestational age at diagnosis and at delivery in consistence with severe preeclampsia group and mild preeclampsia group [(31.8 ± 2.3) weeks vs. (30.9 ± 7.2) weeks, (32.5 ± 2.3) weeks vs. (33.5 ± 3.9) weeks, P > 0.05]. (3) The patients with obstetric mirror syndrome can present a preeclampsia-like syndrome: maternal extremity edema in 12 cases, headache and visual disturbance in 1 case, proteinuria in 11 cases, elevated blood pressure in 5 cases, elevated uric acid in 9 cases, hypoproteinemia in 12 cases, elevated creatinine in 3 case, elevated liver enzyme in 1 case, thrombocytopenia in 2 cases. The major complications included 1 case of HELLP syndrome, acute pulmonary edema, placental abruption, amnionic fluid embolism, DIC respectively, 3 cases of acute kidney failure and 6 cases of postpartum hemorrhage. (4) Sonographic findings: 1) Hydrops fetalis: fetal ultrasound revealed pleural fluid, fetal ascites, skin edema, scalp edema, encephalocolele enlargement, hydropericardium and increased cardio-chest ratio. 2) Placenta megaly: the placental pathological examination revealed edematous and large in 12 cases. Placental thickness was beyond 4 cm in

Birth characteristics of women with Marfan syndrome, obstetric and neonatal outcomes of their pregnancies-A nationwide cohort and case-control study.

PubMed

Kernell, Kristina; Sydsjö, Gunilla; Bladh, Marie; Josefsson, Ann

2017-08-01

The aim was to investigate birth characteristics, obstetric and neonatal outcomes of the first childbirth in women with Marfan syndrome by use of Swedish national registers since pregnancy-related outcomes in women with Marfan syndrome have only been sparsely investigated. In this national population-based cohort study and matched case-control study of Swedish women born 1973-1993, women with Marfan syndrome (n=273) were compared to women without the condition (n=1 017 265). The study population was followed until 2013. A total of 364 553 mother-firstborn-offspring pairs were analyzed. Sixty-one women with Marfan syndrome became mothers. Women with Marfan syndrome were also compared to 543 healthy controls. Women with Marfan syndrome were more often born preterm (p<0.001), small-for-gestational age (p<0.001), and delivered by cesarean section (p=0.001). Women with Marfan syndrome had no increased risk of giving birth by cesarean section (p=0.079). No increased neonatal risks in their children were found. Women with Marfan syndrome were less likely to give birth than those without (p<0.001). There were no maternal deaths. Women with Marfan syndrome were more likely to be born preterm, SGA and by cesarean section. These increased risks of preterm birth and SGA babies were not found in connection with their own first childbirth. Pregnancies with known fetal Marfan syndrome have to be carefully monitored. The results are important for obstetricians giving preconception counseling and treating women with Marfan syndrome. Further studies are needed to evaluate risks during pregnancy and long-term effects of pregnancy on the cardiovascular status of women with Marfan syndrome. Copyright © 2017 Elsevier B.V. All rights reserved.

A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

PubMed

Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

2016-05-01

In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

Anesthetic management of Costello syndrome: a case report.

PubMed

Williams, Christol

2014-04-01

Costello syndrome is a rare genetic disorder with an estimated 300 medical cases worldwide. Typical features that characterize this syndrome include short stature, macrocephaly, developmental delay, loose skin folds, distinctive coarse facial features, and multiorgan system anomalies. The following case report discusses the anesthetic management for a 3-year-old boy undergoing general anesthesia for a scheduled dental restoration, hydrocelectomy, inguinal hernia repair, and bilateral myringotomy with placement of pressure equalization tubes. A scarcity of literature for the anesthetic management of Costello syndrome (also known as faciocutaneoskeletal syndrome) exists. Utilizing an overview of the pertinent literature, clinical practice recommendations are suggested for the anesthetic implications of managing a pediatric patient with this rare syndrome.

Gorlin-Goltz Syndrome: A Rare Case

PubMed Central

Ganguly, Satyaki; Jaykar, Kranti C; Kumar, Rajesh; Jha, Abhijeet Kumar; Banerjee, PK

2015-01-01

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi. PMID:25814758

Reversible hemispheric hypoperfusion in two cases of SMART syndrome.

PubMed

Wai, Karmen; Balabanski, Anna; Chia, Nicholas; Kleinig, Timothy

2017-09-01

Stroke-like migraine attacks after radiation therapy (SMART) syndrome manifests as prolonged episodes of cortical dysfunction, years after cranial irradiation. We present two cases demonstrating reversible hemispheric hypoperfusion. Case 1 presented with left hemispheric symptoms following previous similar episodes. CT perfusion (CTP) demonstrated reversible hemispheric hypoperfusion; subsequent investigations were consistent with SMART syndrome. Case 2 presented following the third episode of a hemispheric syndrome with near-identical CTP abnormalities. L-arginine was administered with rapid reversal of clinical and CTP abnormalities. We conclude that SMART syndrome may demonstrate significant hypoperfusion on hyperacute CTP without subsequent infarction. Impaired cerebrovascular autoregulation probably contributes to cortical dysfunction in SMART syndrome. L-arginine warrants investigation as a potential treatment. Copyright © 2017 Elsevier Ltd. All rights reserved.

Churg-strauss syndrome: a case report.

PubMed

Zhdan, Vyacheslav М; Kitura, Yevdokiia М; Kitura, Oksana Ye; Babanina, Maryna Yu; Tkachenko, Maksym V; Lebid, Volodymyr G

A clinical case of Churg-Strauss syndrome has been reported on the 53-year-old female patient Ts. with bronchial asthma and allergic rhinitis. The main clinical signs and syndromes depending on the stage of the disease are presented, as well as therapeutic treatment of patients with this disease.

Of snakes and babies: intrathoracic stomach and vertebral rachischisis. A serpentine-like syndrome?

PubMed

Katz, Michael S; Hess, Donavon J; Caty, Michael G; Khan, Abdur R; Glick, Philip L

2008-07-01

Snakes have intrathoracic stomachs and rachischisis-like spinal vertebrae. These anomalies are rare in babies and have not been previously described in combination in the English medical literature. Here we present 2 cases of total intrathoracic stomach with a foreshortened esophagus, cervical spine rachischisis, and splenic anomalies in newborns. Both had 46, XX karyotypes. The first case was initially treated with mobilization of the stomach into the abdomen. However, at 18 months the stomach was found to have retracted back into the thorax. Subsequently, the patient received a Collis gastroplasty and G-tube. Two-year follow-up is available. The second case exhibited the abovementioned anomalies along with absence of toes 3 and 4 on the right foot, and cardiac anomalies not compatible with life. The parents chose to withdraw support. The encountered abnormalities may be explained by a first trimester mesenchymal insult and share some similarities with the VACTERL association. In our experience, mobilization of the stomach into the abdomen without elongation of the esophagus will fail. If tolerated, the management of the intrathoracic stomach should include preoperative intragastric feedings to allow time for gastric enlargement followed by a Collis gastroplasty. The management of cervical rachischisis requires assessment of cervical spine stability and cervical immobilization. As other life-threatening birth defects may be present, thorough evaluation should be completed before counseling the families of the treatment options available.

Down Syndrome (For Parents)

MedlinePlus

... Infections Diseases & Conditions Pregnancy & Baby Nutrition & Fitness Emotions & Behavior School & Family Life First Aid & Safety Doctors & Hospitals ... traits abnormalities associated with Down syndrome. Cell free DNA. This test analyzes fetal DNA found in the ...

Vestibular dysfunction in Turner syndrome: a case report.

PubMed

Baxter, Michael; Agrawal, Yuri

2014-02-01

Turner syndrome is a well-known cause of sensorineural hearing loss, and the lack of estrogen has been implicated in cochlear dysfunction. It has never been associated with vestibular dysfunction. We report a case of a patient with Turner syndrome who was found to have bilateral vestibular dysfunction based on video-oculography (VOG) testing. A single patient with a history of Turner syndrome who was found to have significant bilateral vestibular dysfunction. After noticing a deficit in the vestibulo-ocular reflexes on qualitative horizontal head impulse examination, the patient underwent VOG testing. VOG testing quantatively measures angular vestibulo-ocular reflex (AVOR) gain in the horizontal semicircular canal plane. AVOR gain represents the eye movement response to a head movement; in normal individuals the eye movement is fully compensatory and gain values are close to unity. VOG results showed AVOR gains of 0.29 and 0.36 on the right and left sides, respectively. We have presented a case of a woman with Turner syndrome with asymptomatic vestibular dysfunction demonstrated with VOG testing. Although there is a documented relationship between Turner syndrome and sensorineural hearing loss, there are no previous studies or case reports linking Turner syndrome and vestibular dysfunction. Additional research and added vigilance in monitoring Turner syndrome patients may be warranted.

Your Growing Baby

MedlinePlus

... page. Saving Just a moment, please. You've saved this page It's been added to your dashboard . ... health educators. GO Your baby's shots Learn about vaccines that help keep baby healthy. GO News Moms ...

Your Premature Baby

MedlinePlus

... Quality Collaboratives Launch Prematurity research centers What is team science? More than 75 years of solving problems ... to our health educators. GO On your baby's team Meet the people caring for your baby in ...

Your Colicky Baby

MedlinePlus

... of swallowing too much air while crying. Some theories suggest that colic happens when food moves too ... baby's digestive system or is incompletely digested. Other theories are that colic is due to a baby's ...

Two extraordinarily severe cases of Treacher Collins syndrome.

PubMed

Bauer, Mislen; Saldarriaga, Wilmar; Wolfe, S Anthony; Beckwith, J Bruce; Frias, Jaime L; Cohen, M Michael

2013-03-01

Here, we report two extraordinarily severe cases of Teacher Collins syndrome. Initially, amniotic bands and plical fold disruption were considered, but downslanting eyes made us consider severe Treacher Collins syndrome. A TCOF1 mutation in exon 24 was identified in Patient 1 (c.4355_4356ins14, resulting in p.1456Thrfs*18). Patient 2, who expired on day 4, is so similar to Patient 1 that severe Treacher Collins syndrome may be inferred in this instance. Neither the TCOF1 mutation nor the well-known variability in the expression in affected families with Treacher Collins syndrome (∼40% of reported cases) can explain the severity of these cases; otherwise, we would be aware of such cases within families from time to time. We are unaware of any recent sporadic cases (∼60% of reported cases) exactly like ours either with a single exception in the case reported by Writzl et al. [2008] with a TCOF1 mutation. The case described by Otto in 1841 is spectacular. We propose several hypotheses to be considered in explaining this developmental amplification, including some promoter effect on the gene, some position effect on the gene, a polymorphism elsewhere in the gene, a point mutation elsewhere in the gene, a polymorphism in another gene, or a point mutation in another gene, such as POLR1C (which maps to 6p21.1) or POLR1D (which maps to13q12.2). We also review the etiology and pathogenesis of Treacher Collins syndrome, and discuss several other severe cases from the past. Copyright © 2013 Wiley Periodicals, Inc.

Conundrums in neurology: diagnosing serotonin syndrome - a meta-analysis of cases.

PubMed

Werneke, Ursula; Jamshidi, Fariba; Taylor, David M; Ott, Michael

2016-07-12

Serotonin syndrome is a toxic state, caused by serotonin (5HT) excess in the central nervous system. Serotonin syndrome's main feature is neuro-muscular hyperexcitability, which in many cases is mild but in some cases can become life-threatening. The diagnosis of serotonin syndrome remains challenging since it can only be made on clinical grounds. Three diagnostic criteria systems, Sternbach, Radomski and Hunter classifications, are available. Here we test the validity of four assumptions that have become widely accepted: (1) The Hunter classification performs clinically better than the Sternbach and Radomski criteria; (2) in contrast to neuroleptic malignant syndrome, the onset of serotonin syndrome is usually rapid; (3) hyperthermia is a hallmark of severe serotonin syndrome; and (4) serotonin syndrome can readily be distinguished from neuroleptic malignant syndrome on clinical grounds and on the basis of medication history. Systematic review and meta-analysis of all cases of serotonin syndrome and toxicity published between 2004 and 2014, using PubMed and Web of Science. Two of the four assumptions (1 and 2) are based on only one published study each and have not been independently validated. There is little agreement between current criteria systems for the diagnosis of serotonin syndrome. Although frequently thought to be the gold standard for the diagnosis of the serotonin syndrome, the Hunter criteria did not perform better than the Sternbach and Radomski criteria. Not all cases seem to be of rapid onset and only relatively few cases may present with hyperthermia. The 0 differential diagnosis between serotonin syndrome and neuroleptic malignant syndrome is not always clear-cut. Our findings challenge four commonly made assumptions about serotonin syndrome. We propose our meta-analysis of cases (MAC) method as a new way to systematically pool and interpret anecdotal but important clinical information concerning uncommon or emergent phenomena that cannot be

Burping Your Baby

MedlinePlus

... baby. Sometimes your baby may awaken because of gas — simply picking your little one up to burp ... a day of continued crying) might also have gas from swallowing too much air during crying spells, ...

Case report of a patient with 'one-and-a-half plus syndrome: nine syndrome'.

PubMed

Uthman, Muhammad; Kamran, Mehreen

2018-01-01

This case talks about 'One-and-a-half plus syndrome', a clinical syndrome affecting binocular vision and facial nerve. One-and-a-half plus syndrome is a less known clinical syndrome which constitutes of a conjugate horizontal gaze palsy in one direction and an internuclear ophthalmoplegia in the other direction. Despite the known association between ischemia, autoimmune disorders, multiple sclerosis, with mono neuritis multiplex resulting in extra ocular movement disorder, one-and-a-half plus syndrome is rarely considered in the differential diagnosis of eye ball movement disorders, as many clinicians are not able to diagnose such a case as ' the eyes don't see what the mind doesn't know'. Our report aims to raise awareness about connective tissue disorders presenting as neuro-ophthalmological syndrome, as early recognition can accelerate diagnosis and decrease the morbidity.

Non-syndromic odontogenic keratocysts: A rare case report

PubMed Central

Kurdekar, Raghavendra S.; Prakash, Jeevan; Rana, A. S.; Kalra, Puneet

2013-01-01

Odontogenic keratocysts are very well documented in the literature. Multiple odontogenic keratocysts (OKCs) are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBCCS). It is linked with mutation in the PTCH gene (human homolog of the drosophila segment polarity gene, “patched”,). Partial expression of the gene may result in occurrence of only multiple recurring OKC without any associated systemic findings. A rare case of multiple odontogenic keratocysts unassociated with any syndrome is reported, so as to add to the growing number of such cases in the literature. The possibility of this case being a partial expression of the Gorlin-Goltz syndrome is discussed. PMID:24163561

[Case of posterior reversible encephalopathy syndrome caused by Fisher syndrome].

PubMed

Yokoi, Katsunori; Ando, Tetsuo; Kawakami, Osamu

2018-01-26

This report presents a case of a 71-year-old woman with Fisher syndrome who had posterior reversible encephalopathy syndrome (PRES) before the initiation of intravenous immunoglobulin (IVIg) treatment. She had symptoms of common cold 2 weeks before the onset of PRES. On the day of the onset, she began to stagger while walking. On day 2, she developed hypertension, vision impairment, and limb weakness and was admitted to the hospital. On day 3, she was provided steroid pulse therapy. On day 4, she developed convulsions and right imperfection single paralysis and was transferred to the our hospital. During the transfer, the patient was conscious. Her blood pressure was high at 198/107 mmHg. She had mild weakness in her limbs and face, light perception in both eyes, dilation of both pupils, total external ophthalmoplegia, no tendon reflexes, and limb and trunk ataxia. We diagnosed PRES because of the high signal intensities observed on T 2 -weighted MRI on both sides of the parietal and occipital lobes. We also diagnosed Fisher syndrome because of a positive anti-GQ1b immunoglobulin G antibody test and albuminocytologic dissociation in the cerebrospinal fluid. PRES showed prompt improvement with antihypertensive therapy, whereas Fisher syndrome slowly improved over a course of 2 months. This case is the first report of PRES without IVIg suggesting that Fisher syndrome induces hypertension and causes PRES.

Anophthalmia-Waardenburg syndrome: a report of three cases.

PubMed

Suyugül, Z; Seven, M; Hacihanefioğlu, S; Kartal, A; Suyugül, N; Cenani, A

1996-04-24

We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome.

Preliminary evidence for associations between second-trimester human chorionic gonadotropin and unconjugated oestriol levels with pregnancy outcome in Down syndrome pregnancies.

PubMed

Benn, P A

1998-04-01

Fifty-six cases of Down syndrome were identified in a population of women who had undergone maternal serum triple marker screening [alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), and unconjugated oestriol (uE3) analyses]. These affected pregnancies represented all known cases present in the population of 34,368 women screened. Using a 1:270 mid-trimester Down syndrome risk to define the screen-positive group, 42 affected pregnancies were screen-positive (medians: AFP = 0.79 MOM, hCG = 2.13 MOM, uE3 = 0.62 MOM, age 34.6 years) and 14 pregnancies were screen-negative (medians: AFP = 0.82 MOM, hCG = 1.57 MOM, uE3 = 0.92 MOM, age 24.2 years). Four affected pregnancies were associated with in utero death and each of these cases was associated with relatively extreme values of AFP, hCG, and uE3, including the three highest levels of hCG in the entire series of Down syndrome pregnancies. Twenty-nine (15 screen-positive and 14 screen-negative) affected pregnancies resulted in liveborns. Down syndrome pregnancies had a significantly shorter gestational term than controls, and Down syndrome babies were also lighter than controls, even after adjustment for sex and gestational age. In affected pregnancies, a low uE3 level appeared to be associated with a greater chance of a small-for-gestational age baby. No correlations could be demonstrated between AFP or hCG levels and gestational age-adjusted term weight. Based on this small series, it would appear that uE3 may be particularly useful in detecting those Down syndrome cases associated with small-for-gestational age fetuses. A very high hCG value may indicate a higher probability of fetal death.

Death without dignity for commercial surrogacy: the case of Baby M.

PubMed

Annas, G J

1988-01-01

The New Jersey Supreme Court's In re Baby M ruling is applauded for remedying the flawed opinion of the lower court by invalidating surrogate contracts, applying existing law to determine custody, and restoring the natural mother's parental rights. Portions of the decision highlighted are the court's rejection of the label "surrogate mother" and the claim that surrogacy promotes family building. The author analyzes the surrogacy contract's violation of existing adoption laws, the constitutional issues raised by the contract, the court's controversial ruling on custody, and responses to the opinion by commercial baby brokers. He concludes that legislation must be enacted now to prevent "full surrogacy," in which in vitro fertilization and embryo transfer render the gestational mother an incubator with no rights or interests in the child.

May Babies and Posttenure Babies: Maternal Decisions of Women Professors

ERIC Educational Resources Information Center

Armenti, Carmen

2004-01-01

This research explores the maternal and career progression decisions of different generations of women professors in Canada. Nineteen women, interviewed in-depth, reveal how they carefully plan childbearing and childrearing experiences around their demanding work schedules, by having May babies or posttenure babies. Results demonstrate the need…

[Pearson syndrome. Case report].

PubMed

Cammarata-Scalisi, Francisco; López-Gallardo, Ester; Emperador, Sonia; Ruiz-Pesini, Eduardo; Da Silva, Gloria; Camacho, Nolis; Montoya, Julio

2011-09-01

Among the etiologies of anemia in the infancy, the mitochondrial cytopathies are infrequent. Pearson syndrome is diagnosed principally during the initial stages of life and it is characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells, exocrine pancreatic dysfunction and variable neurologic, hepatic, renal and endocrine failures. We report the case of a 14 month-old girl evaluated by a multicentric study, with clinic and molecular diagnosis of Pearson syndrome, with the 4,977-base pair common deletion of mitochondrial DNA. This entity has been associated to diverse phenotypes within the broad clinical spectrum of mitochondrial disease.

Genetic, chromosomal, and syndromic causes of neural tube defects.

PubMed

Seidahmed, Mohammed Z; Abdelbasit, Omer B; Shaheed, Meeralebbae M; Alhussein, Khalid A; Miqdad, Abeer M; Samadi, Abdulmohsen S; Khalil, Mohammed I; Al-Mardawi, Elham; Salih, Mustafa A

2014-12-01

To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions.

Munchausen syndrome by proxy: a case report.

PubMed

Lieder, Holly S; Irving, Sharon Y; Mauricio, Rizalina; Graf, Jeanine M

2005-01-01

Munchausen syndrome by proxy is difficult to diagnose unless healthcare providers are astute to its clinical features and management. A case is presented to educate nurses and advanced practice nurses, of the nursing, medical, legal, and social complexities associated with Munchausen syndrome by proxy. This article also provides a brief review of the definition of Munchausen syndrome by proxy, its epidemiology, common features of the perpetrator, implications for healthcare personnel, and the legal and international ramifications of Munchausen syndrome by proxy.

Facial anthropometry of Hong Kong Chinese babies.

PubMed

Fok, T F; Hon, K L; So, H K; Wong, E; Ng, P C; Lee, A K Y; Chang, A

2003-08-01

To provide a database of the craniofacial measurements of Chinese infants born in Hong Kong. Prospective cross-sectional study. A total of 2371 healthy singleton, born consecutively at the Prince of Wales Hospital and the Union Hospital from June 1998 to June 2000, were included in the study. The range of gestation was 33-42 weeks. Measurements included facial width (FW), facial height (FH), nasal length (NL), nasal width (NW), and length of the philtrum (PhilL). The facial, nasal, nasofacial and nasozygomatic indices were derived. The data show generally higher values for males in the parameters measured. The various indices remained remarkably constant and did not vary significantly between the two genders or with gestation. When compared with previously published data for white people term babies, Chinese babies have similar NW but shorter philtrum length. The human face appears to grow in a remarkably constant fashion as defined by the various indices of facial proportions. This study establishes the first set of gestational age-specific standard of such craniofacial parameters for Chinese new-borns, potentially enabling early syndromal diagnosis. There are significant inter-racial differences in these craniofacial parameters.

Smokefree After Baby

Cancer.gov

Many women quit smoking when they become pregnant. However, about 40 percent start smoking again 6 months after they have their baby. Quitting smoking has benefits for you and your baby that last longer than the 9 months of your pregnancy.

Baby Brain Map

MedlinePlus

... a Member Home Resources & Services Professional Resource Baby Brain Map Mar 17, 2016 The Brain Map was adapted in 2006 by ZERO TO ... supports Adobe Flash Player. To view the Baby Brain Map, please visit this page on a browser ...

[Usher syndrome: about a case].

PubMed

Daoudi, Chama; Boutimzine, Noureddine; Haouzi, Samia El; Lezrek, Omar; Tachfouti, Samira; Lezrek, Mounir; Laghmari, Mina; Daoudi, Rajae

2017-01-01

Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary retinopathy responsible for decreased bilateral visual acuity occurred at the age of 16 years. This association composes Usher syndrome type 2, a rare autosomal recessive disorder. Cataract surgery allowed visual acuity improvement in this patient.

Case Of Iatrogenic Cushing's Syndrome By Topical Triamcinolone.

PubMed

Zil-E-Ali, Ahsan; Janjua, Omer Hanif; Latif, Aiza; Aadil, Muhammad

2018-01-01

Cushing's syndrome is a collection of signs and symptoms due to hypercortisolism. Prolong use of topical steroid may cause this syndrome and suppression of hypothalamic and pituitary function, however such events are more common with oral and parenteral route. There are very few cases of Cushing's syndrome with a topical application amongst which triamcinolone is the rarest drug. We report a case of 11-year-old boy is presented who developed Cushing's disease by topical application. The child had body rashes for which the caregiver consulted a local quack, a topical cream of triamcinolone was prescribed. After application for three months, the patient became obese and developed a moon-like face. A thorough biochemical workup and diagnostic test for Cushing's disease was done to confirm. The following case report a dramatic example of development of the syndrome from chronic topical application of the least potent corticosteroid.

An instrumental case study examining the introduction and dissemination of the Baby Friendly Health Initiative in Australia: Participants' perspectives.

PubMed

Atchan, Marjorie; Davis, Deborah; Foureur, Maralyn

2018-06-01

Australia experiences high breastfeeding initiation but low duration rates. UNICEF introduced the global breastfeeding strategy, the Baby-Friendly Hospital Initiative, to Australia in 1992, transferring governance to the Australian College of Midwives (ACM) in 1995. In 2017 23% of facilities were registered as 'baby-friendly' accredited. To examine the introduction and dissemination of the Baby-friendly Hospital Initiative into the Australian national setting. An instrumental case study was conducted containing two components: analysis of historical documents pertaining to the Initiative and participant's interviews, reported here. A purposive sampling strategy identified 14 participants from UNICEF, ACM, maternity and community health services, the Australian government and volunteer organisations who took part in in-depth interviews. Thematic analysis explored participants' perceptions of factors influencing the uptake and future of the since renamed Baby Friendly Health Initiative (BFHI) and accreditation programme, BFHI Australia. Two broad categories, enablers and barriers, guided the interviews and analysis. Participants revealed a positive perception of the BFHI whilst identifying that its interpretation and expansion in Australia had been negatively influenced by intangible government support and suboptimal capacity building. BFHI's advocacy agenda competed with BFHI Australia's need for financial viability. Widespread stakeholder collaboration and tangible political endorsement was seen as a way to move the strategy forward. Dissemination of BFHI Australia is hampered by multi-level systems issues. Prioritisation, stakeholder collaboration and adequate resourcing of the BFHI is required to create a supportive and enabling environment for Australian women to determine and practice their preferred infant feeding method. Copyright © 2017 Australian College of Midwives. Published by Elsevier Ltd. All rights reserved.

Twin Legacies: Victor and Vincent McKusick/Twin Studies: Twinning Rates I; Twinning Rates II; MZ Twin Discordance for Russell-Silver Syndrome; Twins' Language Skills/Headlines: Babies Born to Identical Twin Couples; Identity Exchange; Death of Princess Ashraf (Twin); Yahoo CEO Delivers Identical Twins.

PubMed

Segal, Nancy L

2016-04-01

The lives of the illustrious monozygotic (MZ) twins, Victor A. and Vincent L. McKusick, are described. Victor earned the distinction as the 'Father of Medical Genetics', while Vincent was a legendary Chief Justice of the Maine Supreme Court. This dual biographical account is followed by two timely reports of twinning rates, a study of MZ twin discordance for Russell-Silver Syndrome (RSS) and a study of twins' language skills. Twin stories in the news include babies born to identical twin couples, a case of switched identity, the death of Princess Ashraf (Twin) and a new mother of twins who is also Yahoo's CEO.

BABY EMPATHY: INFANT DISTRESS AND PEER PROSOCIAL RESPONSES.

PubMed

Liddle, Mitzi-Jane E; Bradley, Ben S; Mcgrath, Andrew

2015-01-01

Empathy is an important competence in our social world, a motivator of prosocial behavior, and thought to develop throughout the second year of life. The current study examined infants' responses to naturalistic peer distress to explore markers of empathy and prosocial behavior in young babies. Seventeen 8-month-old infants participated in a repeated measures design using the "babies-in-groups" paradigm, with maternal presence as the independent variable. Significant differences were found between response types: Gaze was the standard response to infant distress, followed by socially directed behaviors and affect, with self-distress rarely occurring. Maternal presence was not found to impact the nature or frequency of babies' responses to peer distress. During distress episodes, babies looked preferentially at the distressed peer, then other mothers, and least to their own mother. Data revealed that infant responses to peer distress resulted in a successful cessation of that distress episode over one third of the time. Case studies are provided to illustrate the quantitative data. The results provided evidence of empathic concern and prosocial behavior in the first year of life, and provoke a challenge to developmental theories of empathy. © 2015 Michigan Association for Infant Mental Health.

Consequences of low birth weight, maternal illiteracy and poor access to medical care in rural India: infantile iatrogenic Cushing syndrome

PubMed Central

Karande, Sunil

2015-01-01

Home delivery, low birth weight babies and maternal illiteracy among the poor in rural India are frequent. The rural poor prefer to seek healthcare from private providers, most of whom have no formal medical training and buy medicines from private pharmacies without a prescription owing to a weakly regulated environment. This report is of a 4-month-old baby from a remote village in northern India, who presented with exogenous Cushing syndrome. This baby was a full-term low birth weight home delivery. As the baby was not growing well, treatment was started at 1 month by a private doctor with betamethasone drops The mother on her own volition continued giving the betamethasone drops by buying the medicine over the counter from a private pharmacy. This case highlights the gaps in essential health services in rural India and the steps being taken to improve the situation. PMID:26297767

Asperger syndrome related suicidal behavior: two case studies.

PubMed

Kocourkova, Jana; Dudova, Iva; Koutek, Jiri

2013-01-01

Asperger syndrome hinders adaptation to developmental challenges during childhood and adolescence, particularly with regard to interpersonal relationships. Individuals with Asperger syndrome display lack of empathy and limited ability to understand social and emotional exchanges with other people. Individuals with Asperger syndrome are significantly exposed to the risk of suicidal behavior, especially during adolescence. The authors describe cases of suicidal behavior in two adolescent boys with Asperger syndrome.

Seckel syndrome: a report of a case.

PubMed

Ramalingam, K; Kaliyamurthy, S D; Govindarajan, M; Swathi, S

2012-01-01

Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000), genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia), and mental retardation. The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limited to the primary dentition; in most instances the second primary molar tooth is not affected. A case of the Seckel syndrome is presented.

Sjogren’s syndrome: a case report

NASA Astrophysics Data System (ADS)

Sunata, A.; Marpaung, B.

2018-03-01

The incidence of Sjogren’s Syndrome was estimated 4 in 100.000 of these cases with the prevalence is 0.2% to 2.7% of the population. Predominant sex female/male ratio is approximately 10:1 with peak incidence is in the fourth and fifth decade. A 29-year-old woman had dry eyes and recurrent sensation of sand in the eyes for two years. Schimmer’s test was positive ≤5mm in 5 minutes both, and the autoantibodies SSA and SSB were positive. Without history head or neck radiation and the result of laboratory examination hepatitis C and HIV negative. Until now there is no satisfying therapy for Sjogren Syndrome, only supportive specific to symptomatic can be treated. We reported a case of Sjogren Syndrome with dry eyes symptom, polyathralgia, and fatigue. Muscarinic agonist pilocarpine 5mg PO qid and hydroxychloroquine were given.

Usher's syndrome--case report.

PubMed

Kwiecień, Sława; Sulak, Robert; Szaflik, Jerzy

2008-01-01

The aim of this study is to present a case of coincidence of sensorineural hearing loss with chronic recurrent bilateral cystoid macular oedema in a 32-year-old woman, who was admitted to the clinic for deterioration of visual acuity of four months' duration. The patient gave a history of hearing loss for 29 years. Visual field examination disclosed peripheral ring scotoma. Electrophysiological examination was performed: pattern visual evoked response was within normal limits and electroretinogram displayed diminished both photopic and scotopic response. As ophthalmoscopy demonstrated no pigment in the fundus of the eye, the findings were consisted with diagnosis of retinitis pigmentosis sine pigmento. The presence of loss of hearing indicated the necessity of performing the genetic examination for Usher's syndrome. In order to establish a final diagnosis of Usher's syndrome genetic examination must be performed, but family history is relevant. Early investigation for Usher's syndrome in children with sensorineural hearing impairment is of a great significance. The patient may develop symptoms of retinitis pigmentosa in second or even third decade of his life. The necessity of thorough investigation for detecting other systemic abnormalities should be emphasized. There is no effective treatment of this syndrome. A child with Usher's syndrome requires a comprehensive care of different medical specialties. Psychological, educational and sociological attitude is also of a great importance in the child development.

SPEEDY babies: A putative new behavioral syndrome of unbalanced motor-speech development

PubMed Central

Haapanen, Marja-Leena; Aro, Tuomo; Isotalo, Elina

2008-01-01

Even though difficulties in motor development in children with speech and language disorders are widely known, hardly any attention is paid to the association between atypically rapidly occurring unassisted walking and delayed speech development. The four children described here presented with a developmental behavioral triad: 1) atypically speedy motor development, 2) impaired expressive speech, and 3) tongue carriage dysfunction resulting in related misarticulations. Those characteristics might be phenotypically or genetically clustered. These children didn’t have impaired cognition, neurological or mental disease, defective sense organs, craniofacial dysmorphology or susceptibility to upper respiratory infections, particularly recurrent otitis media. Attention should be paid on discordant and unbalanced achievement of developmental milestones. Present children are termed SPEEDY babies, where SPEEDY refers to rapid independent walking, SPEE and DY to dyspractic or dysfunctional speech development and lingual dysfunction resulting in linguoalveolar misarticulations. SPEEDY babies require health care that recognizes and respects their motor skills and supports their needs for motor activities and on the other hand include treatment for impaired speech. The parents may need advice and support with these children. PMID:19337462

Reversible Cerebral Vasoconstriction Syndrome in Pediatrics: A Case Series and Review.

PubMed

Coffino, Samantha W; Fryer, Robert H

2017-06-01

Reversible cerebral vasoconstriction syndrome is a transient vasculopathy associated with severe headaches and stroke. In most cases of reversible cerebral vasoconstriction syndrome, there is a precipitating event or trigger, such as pregnancy, serotonin agonist treatment or illicit drug use. The authors present 2 pediatric cases of reversible cerebral vasoconstriction syndrome and review the previous 11 pediatric cases in the literature. In many instances, the clinical and radiographic features are similar in both pediatric and adult cases. In the pediatric group, reported potential triggers include trauma (1/13), exercise (2/13), water to the face (3/13), hypertension (3/13), and medication or substance use (4/13). One surprising difference is that 11 out of 13 pediatric patients with reversible cerebral vasoconstriction syndrome are male while most cases in adults are female. Many of the pediatric patients with reversible cerebral vasoconstriction syndrome were treated with a calcium channel blocker and the overall outcome of pediatric reversible cerebral vasoconstriction syndrome was good, with most patients experiencing a full recovery.

[Corneal lesions in Kindler syndrome: a case report].

PubMed

Chéour, M; Mazlout, H; Ben Jalel, W; Brour, J; Baroudi, B; Kraiem, A

2012-01-01

Kindler syndrome is a rare autosomal recessive genodermatosis belonging to the class of bullous poikiloderma. Corneal lesions are rare. We report a case of ocular lesions in this syndrome. We report the case of a 57-year-old patient followed since childhood in dermatology with the diagnosis of Kindler syndrome. He presented to the ophthalmology department with decreased vision. Ophthalmologic examination showed symblepharon, ectropion in both eyes, and corneal deformation. The role played by the abnormal protein in epithelial integrity suggests that ocular and more particularly corneal involvement is not rare in Kindler syndrome. In fact, it is less known by ophthalmologists and dermatologists are not aware of the ophthalmologic manifestations. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Maternal Pseudo-Bartter Syndrome Associated with Severe Perinatal Brain Injury.

PubMed

Vora, Shrenik; Ibrahim, Thowfique; Rajadurai, Victor Samuel

2017-09-15

Maternal electrolyte imbalance is rarely reported as causative factor of severe perinatal brain injury. This case outlines a unique maternal and neonatal pseudo-Bartter syndrome presented with metabolic alkalosis and hypochloremia due to maternal severe vomiting. Neonatal MRI brain revealed extensive brain hemorrhages with porencephalic cysts. Subsequent investigation workup points towards maternal severe metabolic alkalosis as its cause. Careful medical attention should be paid to pregnant women with excessive vomiting to ensure a healthy outcome for both the mother and the baby.

A Microcosting Study of Establishing a Baby Café® in Texas.

PubMed

Delgado, Rigoberto I; Gill, Sara L

2018-02-01

This article focuses on the costs of opening and running a Baby Café. A Baby Café is an intervention that focuses on providing peer-to-peer support for breastfeeding mothers. Research aim: This study aimed to estimate the costs of establishing and running a Baby Café. The authors used a microcosting approach to identifying costs using the case of a Baby Café located in San Antonio, Texas, and modeled after other existing cafés in the United States. They also used extensive literature review and conducted an informal interview with a manager of an existing Baby Café in the United States to validate our cost data. The cost analysis was done from the provider perspective. Costs of starting a Baby Café were $36,000, whereas annual operating costs totaled $47,000. Total discounted costs for a 5-year period amounted to $250,000, resulting in a cost per Baby Café session of $521 and cost per mother of $104. Varying the number of sessions per week and number of mothers attending each session, the discounted cost per Baby Café session ranged between $460 and $740 and the cost per mother varied between $65 and $246. These findings can be used by policy makers and organizations to evaluate local resource requirements for starting a Baby Café. Further research is needed to evaluate the effectiveness of this intervention against other breastfeeding promoting initiatives.

Clinical characteristics of mirror syndrome: a comparison of 10 cases of mirror syndrome with non-mirror syndrome fetal hydrops cases.

PubMed

Hirata, Go; Aoki, Shigeru; Sakamaki, Kentaro; Takahashi, Tsuneo; Hirahara, Fumiki; Ishikawa, Hiroshi

2016-01-01

To investigate clinical features of mirror syndrome. We retrospectively reviewed 71 cases of fetal hydrops with or without mirror syndrome, and compared with respect to maternal age, the body mass index, the primipara rate, the gestational age at delivery, the timing of fetal hydrops onset, the severity of fetal edema, placental swelling, the laboratory data and the fetal mortality. The data are expressed as the medians. Mirror syndrome developed in 29% (10/35) of the cases with fetal hydrops. In mirror group, the onset time of fetal hydrops was significantly earlier (29 weeks versus 31 weeks, p = 0.011), and the severity of fetal hydrops (fetal edema/biparietal diameter) was significantly higher than non-mirror group (0.23 versus 0.16, p < 0.001). There was significantly higher serum human chorionic gonadotropin (hCG) (453,000 IU/L versus 80,000 IU/L, p < 0.001) and lower hemoglobin (8.9 g/dL versus 10.1 g/dL, p =0.002), hypoalbuminemia (2.3 mg/dL versus 2.7 mg/dL, p = 0.007), hyperuricemia (6.4 mg/dL versus 5.0 mg/dL, p = 0.043) in mirror group. Mirror syndrome is occurred frequently in early and severe fetal hydrops and cause hemodilution and elevation of serum hCG.

Case report: waardenburg syndrome.

PubMed

Dumayas, Grace Lea; Capó-Aponte, José E

2015-03-01

A case of Waardenburg syndrome type 1 is described and relevant literature is reviewed to raise awareness about this rare syndrome, including the classification of each subtype and the differentiating clinical manifestations. A 44-year-old African-American female presented for a routine evaluation with hearing loss, dystopia canthorum (W index = 2.74), and almost complete gray hair. In addition, she presented with heterochromia irides, different fundus pigmentation between eyes. The patient did not have any upper limbs defect, cranial skeletal abnormalities, or intestinal disorders. Facial abnormalities and a white forelock are prominent features difficult to overlook during a routine ophthalmological examination. A careful medical history in patients with suspected Waardenburg syndrome is important to accurately classify this rare condition and to identify potential systemic implications associated to each subtype. The associated systemic complications can be addressed and managed through referral to the appropriate subspecialties. Reprint & Copyright © 2015 Association of Military Surgeons of the U.S.

Genoa Syndrome and Central Diabetes Insipidus: A Case Report

PubMed Central

Şıklar, Zeynep; Erdeve, Şenay Savaş; Berberoğlu, Merih; Deda, Gülhiz; Tıraş, Serap Teber; Fitöz, Suat; Öçal, Gönül

2010-01-01

Genoa syndrome was first described by Camera et al in 1993 in two patients with semilobar holoprosencephaly (HPE), craniosynostosis and abnormal small hands with cone−shaped epiphyses and hypoplastic terminal phalanges of fingers (OMIM: 601370). In 2001, Lapunzina et al reported a case of craniosynostosis and HPE associated with several other malformations and suggested that these findings could be attributed to a severe form of Genoa syndrome or to a newly recognized syndrome. Endocrinopathies in association with HPE are frequently reported in the literature. Diabetes insipidus, hypothyroidism, hypocortisolism, and growth hormone deficiency are frequently associated with HPE. We here report a case of semilobar HPE, craniosynostosis and cleft lip/palate, possibly a case of Genoa syndrome, associated with central diabetes insipidus. Conflict of interest:None declared. PMID:21274346

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report.

PubMed

Fini, G; Belli, E; Mici, E; Virciglio, P; Moricca, L M; D'Itri, L; Leonardi, A; Malavenda, M S; Krizzuk, D; Merola, R; Maturo, A; Pasta, V

2013-01-01

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient's life under threat.

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report

PubMed Central

FINI, G.; BELLI, E.; MICI, E.; VIRCIGLIO, P.; MORICCA, L.M.; D’ITRI, L.; LEONARDI, A.; MALAVENDA, M.S.; KRIZZUK, D.; MEROLA, R.; MATURO, A.; PASTA, V.

2013-01-01

Summary: Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient’s life under threat. PMID:23837959

Drug rash, eosinophilia, and systemic symptoms syndrome: Two pediatric cases demonstrating the range of severity in presentation--A case of vancomycin-induced drug hypersensitivity mimicking toxic shock syndrome and a milder case induced by minocycline.

PubMed

Vinson, Amy E; Dufort, Elizabeth M; Willis, Matthew D; Eberson, Craig P; Harwell, Joseph I

2010-07-01

Drug rash, eosinophilia, and systemic symptoms syndrome is a type of drug hypersensitivity reaction characterized by the clinical triad of skin eruption, fever, and internal organ involvement. Drug rash, eosinophilia, and systemic symptoms syndrome has rarely been reported in association with vancomycin or in the pediatric population. There have only been four pediatric case reports of drug rash, eosinophilia, and systemic symptoms syndrome and three cases of drug rash, eosinophilia, and systemic symptoms syndrome involving vancomycin published in the English literature to date. We describe two pediatric cases of drug rash, eosinophilia, and systemic symptoms syndrome to illustrate the range in severity of presentation. The first case illustrates drug rash, eosinophilia, and systemic symptoms syndrome associated with vancomycin exposure in a 14-yr-old boy with Duchenne muscular dystrophy after posterior spinal fusion, whose clinical presentation was indistinguishable from toxic shock syndrome. The second case illustrates a milder and more typical presentation of drug rash, eosinophilia, and systemic symptoms syndrome in a 14-yr-old boy being treated with minocycline for acne. We also present a review of the literature relevant to this syndrome. : Drug rash, eosinophilia, and systemic symptoms syndrome is relatively unknown among general pediatricians and pediatric intensivists and may potentially become more common with the increasing use of long-term medications in the pediatric population. Our cases demonstrate the importance of an awareness of drug rash, eosinophilia, and systemic symptoms syndrome among general pediatricians and pediatric intensivists because drug rash, eosinophilia, and systemic symptoms syndrome may present in any range of severity, from indolent illness to frank and refractory shock.

Mazabraud's syndrome: case report and literature review

PubMed Central

Munksgaard, Peter Svenssen; Salkus, Giedrius; Iyer, Victor V; Fisker, Rune Vincents

2013-01-01

Mazabraud's syndrome is a rare disorder characterized by the association of single or multiple intramuscular myxomas with fibrous dysplasia. Here, we present the first case of Mazabraud's syndrome visualized on 18F-FDG PET/CT with histopathological confirmation of the myxoma. Our case demonstrates a slightly increased FDG uptake (SUVmax 2.1) within the myxomas and a moderately to highly increased tracer uptake (SUVmax 7.0) within the fibrous dysplastic lesions. The typical histological appearance of the intramuscular myxoma confirmed the radiological diagnosis. Further, we discuss the imaging findings and the histopathological features of this rare case with a review of the related literature. PMID:24198959

Asperger's syndrome: a case report

PubMed Central

Goodman, Carol M.

1987-01-01

A case report is presented of an 11-year-old boy who has been diagnosed as having Asperger's syndrome. There follows a review of the clinical features, course, prognosis and management of this condition. PMID:2453672

Serratia marcescens-contaminated baby shampoo causing an outbreak among newborns at King Abdulaziz University Hospital, Jeddah, Saudi Arabia.

PubMed

Madani, T A; Alsaedi, S; James, L; Eldeek, B S; Jiman-Fatani, A A; Alawi, M M; Marwan, D; Cudal, M; Macapagal, M; Bahlas, R; Farouq, M

2011-05-01

During November 2008 to January 2009, 11 babies in the neonatal intensive care (NICU) and three babies in the nursery were infected with Serratia marcescens at King Abdulaziz University Hospital in Saudi Arabia. Overall, fifteen infections were identified among 11 newborns in the NICU: septicaemia (five cases), purulent conjunctivitis (three), urinary tract infection (two), meningitis (two) and cellulitis (one). Three newborns in the nursery had three infections: purulent conjunctivitis (two cases) and omphalitis (one). Thirteen of 14 babies recovered fully but one died from S. marcescens meningitis and septicaemia. All infections were traced to intrinsically contaminated baby shampoo introduced to the units five days before the first reported case. The outbreak terminated following withdrawal of the shampoo product. Copyright © 2011 The Healthcare Infection Society. Published by Elsevier Ltd. All rights reserved.

Williams-Beuren's Syndrome: A Case Report.

PubMed

Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

2012-01-01

Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

Williams-Beuren's Syndrome: A Case Report

PubMed Central

Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

2012-01-01

Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem. PMID:22927862

Neonatal Marfan syndrome: Report of two cases.

PubMed

Jurko, Tomas; Jurko, Alexander; Minarik, Milan; Micieta, Vladimir; Tonhajzerova, Ingrid; Kolarovszka, Hana; Zibolen, Mirko

2017-07-01

Marfan syndrome is rarely diagnosed in the neonatal period because of variable expression and age-dependent appearance of clinical signs. The prognosis is usually poor due to high probability of congestive heart failure, mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management. The authors have studied two cases of Marfan syndrome in the newborn period. Two cases of neonatal Marfan syndrome, one male and one female, were diagnosed by characteristic physical appearance. Both infants had significant cardiovascular abnormalities diagnosed by ultrasonography. Genetic DNA analysis in the second case confirmed the mutations in the fibrillin-1 gene located on chromosome 15q21 which is responsible for the development of Marfan syndrome. The boy died at six weeks of age with signs of rapidly progressive left ventricular failure associated with pneumonia. The second infant was having only mild signs of congestive heart failure and has been treated with beta blockers. At the age of 4 years her symptoms of congestive heart failure had worsened due to progression of mitral and tricuspid insufficiency and development of significant cardiomegaly. Mitral and tricuspid valvuloplasy had to be done at that time. Early diagnosis of Marfan syndrome in the newborn period can allow treatment in the early stages of cardiovascular abnormalities and may improve the prognosis. It also helps to explain to the family the serious health problem of their child.

[Wilkie Syndrome. A case report].

PubMed

González Hermosillo-Cornejo, Daniel; Díaz Girón-Gidi, Alejandro; Vélez-Pérez, Francisco Manuel; Lemus-Ramírez, Ramón Ignacio; Andrade Martínez-Garza, Pablo

Wilkie syndrome, also referred as superior mesenteric artery syndrome, is an unusual cause of a proximal small bowel obstruction. It is characterised by the compression of the duodenum in its third portion due to a narrowing of the space between the superior mesenteric artery and the aorta. Its presentation symptoms are consistent and include the obstruction of the proximal small bowel. However, the physical and laboratory findings are non-specific. Nevertheless, many imaging methods are useful for its diagnosis. The management of this condition varies between observation and surgery, depending on each particular case. The case is presented of a 19 year-old male who began with acute, intense abdominal pain, nausea, vomiting, and diarrhoea. On examination, he had abdominal wall rigidity and hyperesthesia. Imaging studies were requested, revealing a decreased superior mesenteric artery angle, a shortening of the aortic mesenteric distance, and a decrease in the calibre of the third duodenal portion, all findings concomitant with Wilkie syndrome. Conservative treatment was applied and the patient was discharged without complications. Wilkie syndrome continues to be an unknown condition to the general practitioner, and the underdiagnosis of this condition may put a patient at risk of serious complications. A high index of suspicion is required to reach a diagnosis. Early treatment should give a good outcome most of the time. Copyright © 2015 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

7 CFR 319.56-43 - Baby corn and baby carrots from Zambia.

Code of Federal Regulations, 2010 CFR

2010-01-01

... § 319.56-43 Baby corn and baby carrots from Zambia. (a) Immature, dehusked “baby” sweet corn (Zea mays L... consignments only. (b) Immature “baby” carrots (Daucus carota L. ssp. sativus) for consumption measuring 10 to...

'Munchausen syndrome by proxy' presenting as battered child syndrome: a report of two cases.

PubMed

Sugandhan, Selvendran; Gupta, Somesh; Khandpur, Sujay; Khanna, Neena; Mehta, Manju; Inna, Prashanth

2010-06-01

Child abuse is a major public health crisis and is on the rise. Dermatologists are frequently involved in its evaluation in differentiating abusive injuries from accidental injuries and in excluding pathological conditions that may mimic abuse. Battered child syndrome or physical abuse is not only a common form of child abuse but can also result from a rarer form of child abuse known as Munchausen syndrome by proxy. In this form of abuse, mother, who is the usual perpetrator, induces an illness or abuses the child for her own self-serving psychological needs. We report two cases of battered child syndrome. In both the cases, Psychiatric evaluation was performed on both parents. Observation through one-way mirror was done with the mother and the child alone. Routine hematological and biochemical investigations were done. Diagnosis of Munchausen syndrome by proxy was firmly established in one case and was considered as a possibility in the other. A multidisciplinary team effort is essential in evaluating such cases, and dermatologists should be aware and be well informed about this condition that can be potentially lethal but easily overlooked.

The Baby Boomers' intergenerational relationships.

PubMed

Fingerman, Karen L; Pillemer, Karl A; Silverstein, Merril; Suitor, J Jill

2012-04-01

As Baby Boomers enter late life, relationships with family members gain importance. This review article highlights two aspects of their intergenerational relationships: (a) caregiving for aging parents and (b) interactions with adult children in the context of changing marital dynamics. The researchers describe three studies: (a) the Within Family Differences Study (WFDS) of mothers aged 65-75 and their multiple grown children (primarily Baby Boomers) ongoing since 2001; (b) the Family Exchanges Study (FES) of Baby Boomers aged 42-60, their spouses, parents, and multiple grown children ongoing since 2008; and (c) the Longitudinal Study of Generations (LSoG) of 351 three-generation families started when the Baby Boomers were teenagers in 1971, with interviews every 3-5 years from 1985 to 2005. These studies show that the Baby Boomers in midlife navigate complex intergenerational patterns. The WFDS finds aging parents differentiate among Baby Boomer children in midlife, favoring some more than others. The FES shows that the Baby Boomers are typically more involved with their children than with their aging parents; Boomers' personal values, family members' needs, and personal rewards shape decisions about support. The LSoG documents how divorce and remarriage dampen intergenerational obligations in some families. Moreover, loosening cultural norms have weakened family bonds in general. Reviews of these studies provide insights into how the Baby Boomers may negotiate caregiving for aging parents as well as the likelihood of family care they will receive when their own health declines in the future.

[Toxic-shock syndrome. Three cases (author's transl)].

PubMed

Rapin, M; D'Enfert, J; Cabane, J

1981-06-13

Several cases of toxic shock syndrome (T.S.S) have been recently reported from the U.S.A. Clinical features of this new syndrome include fever, desquamative scarlatiniform rash, hypotension and involvement of central nervous system, liver, kidney and muscles. More than 90% of cases are women with staphylococcic vaginitis using tampons during menstruations. A toxin produced by staphylococcus aureus is thought to be the causative agent, because the germ has been isolated in local (vaginal, pharyngeal, subcutaneous or other sites) but not systemic (blood, cerebrospinal fluid) cultures. The mortality rate is 3-10%, and relapse can occur. We report the first three french cases of T.S.S.: a 17 year old girl with typical tampon-associated vaginitis, a 36 year old woman with a postoperative peritonitis and a 20 year old man with a popliteal abscess. Staphylococcus aureus of type I or IV was identified at the site of infection in all cases, but never in blood cultures. These three patients recovered with antistaphylococcic antibiotics and supportive therapy, but local treatment of infections seems to have been of utmost importance. These cases suggest that T.S.S. can occur with several staphylococcus serotypes and confirm that this syndrome is not always associated with tampons and vaginitis.

Consequences of low birth weight, maternal illiteracy and poor access to medical care in rural India: infantile iatrogenic Cushing syndrome.

PubMed

Karande, Sunil

2015-08-21

Home delivery, low birth weight babies and maternal illiteracy among the poor in rural India are frequent. The rural poor prefer to seek healthcare from private providers, most of whom have no formal medical training and buy medicines from private pharmacies without a prescription owing to a weakly regulated environment. This report is of a 4-month-old baby from a remote village in northern India, who presented with exogenous Cushing syndrome. This baby was a full-term low birth weight home delivery. As the baby was not growing well, treatment was started at 1 month by a private doctor with betamethasone drops The mother on her own volition continued giving the betamethasone drops by buying the medicine over the counter from a private pharmacy. This case highlights the gaps in essential health services in rural India and the steps being taken to improve the situation. 2015 BMJ Publishing Group Ltd.

Grow, Baby, Grow

Cancer.gov

Maybe you quit smoking during your pregnancy. Or maybe you struggled and weren’t able to stay quit. Now that your baby is here, trying to stay away from smoking is still important. That’s because the chemicals in smoke can make it harder for your baby to grow like he or she should.

Genetic, chromosomal, and syndromic causes of neural tube defects

PubMed Central

Seidahmed, Mohammed Z.; Abdelbasit, Omer B.; Shaheed, Meeralebbae M.; Alhussein, Khalid A.; Miqdad, Abeer M.; Samadi, Abdulmohsen S.; Khalil, Mohammed I.; Al-Mardawi, Elham; Salih, Mustafa A.

2014-01-01

Objective: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. Methods: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Results: Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. Conclusions: There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions. PMID:25551112

Vasospastic angina and scombroid syndrome: a case report.

PubMed

Coppola, G; Caccamo, G; Bacarella, D; Corrado, E; Caruso, M; Cannavò, M G; Assennato, P; Novo, S

2012-01-01

Scombroid syndrome is a fish poisoning characterised by the onset of symptoms compatible with a pseudoallergic reaction; it is rarely also responsible of signs and symptoms of acute coronary syndromes, as demonstrated in this case report.

PLATEAU IRIS SYNDROME--CASE SERIES.

PubMed

Feraru, Crenguta Ioana; Pantalon, Anca Delia; Chiselita, Dorin; Branisteanu, Daniel

2015-01-01

Plateau iris is characterized by closing the anterior chamber angle due to a large ciliary body or due to its anterior insertion that alters the position of iris periphery in respect to the trabecular meshwork. There are two aspects that need to be differentiated: plateau iris configuration and plateau iris syndrome. The first describes a situation when the iris root is flat and the anterior chamber is not shallow, the latter refers to a post laser iridotomy condition in which a patent iridotomy has removed the relative pupillary block, but goniscopically confirmed angle closure recurs without central shallowing of the anterior chamber. Isolated plateau iris syndrome is rare compared to plateau iris configuration. We hereby present two case reports of plateau iris syndrome in young patients who came to an ophthalmologic consult by chance.

Baby Doe and the Search for a Quality Life.

ERIC Educational Resources Information Center

Powell, T. Hennessy; Hecimovic, Anton

1985-01-01

The author reviews quality of life arguments proposed in Baby Doe cases involving severely handicapped infants and views quality of life in terms of six dimensions: educability, relationships, residence, access, technology, and medical considerations. (CL)

Boosting Your Baby's Brain Power

ERIC Educational Resources Information Center

Engel-Smothers, Holly; Heim, Susan M.

2009-01-01

With more than 100 billion neurons that would stretch more than 60,000 miles, a newborn baby's brain is quite phenomenal! These neurons must generally form connections within the first eight months of a baby's life to foster optimal brain growth and lifelong learning. Mommies, daddies, and caregivers are extremely vital to ensuring babies reach…

Hermansky-Pudlak Syndrome: A Case Report

PubMed Central

Berber, Ilhami; Erkurt, Mehmet Ali; Kuku, Irfan; Kaya, Emin; Koroglu, Mustafa; Gul, Mehmet; Bentli, Recep

2014-01-01

Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly) administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems. PMID:24707413

Down Syndrome. NICHCY Disability Fact Sheet #4

ERIC Educational Resources Information Center

National Dissemination Center for Children with Disabilities, 2010

2010-01-01

When a baby is born with Down syndrome, his or her parents should know that there's a lot of help available--and immediately. Shortly after the diagnosis of Down syndrome is confirmed, parents will want to get in touch with the early intervention system in their community. Early intervention is a system of services designed to help infants and…

Refeeding syndrome or refeeding hypophosphatemia: a systematic review of cases.

PubMed

Skipper, Annalynn

2012-02-01

Nutrition support clinicians refer to the abnormalities in laboratory data and changes in clinical signs and symptoms that follow refeeding of starved or malnourished patients as refeeding syndrome. Theoretical descriptions of refeeding syndrome include a complex and extensive list of changes, such as hypophosphatemia, hypomagnesemia, hypokalemia, hyponatremia, hypocalcemia, hyperglycemia, and vitamin deficiency--all of which are accompanied by clinical signs and symptoms. In practice, clinicians see asymptomatic refeeding hypophosphatemia more often than a full-blown syndrome with multiple laboratory and clinical abnormalities. Confusion results because there is no widely accepted or uniformly applied set of defining characteristics for diagnosing refeeding syndrome. To gain insight into the clinical characteristics of refeeding syndrome described in the literature, a systematic review of reported cases and case series was conducted. Since 2000, 20 authors described 27 cases that contained sufficient data for review. Hypophosphatemia occurred in 26 patients (96%). While 19 patients (71%) experienced at least 1 other laboratory abnormality, only 14 (51%) exhibited a consistent pattern of abnormally low phosphorus and magnesium levels. Seven patients had hypocalcemia (26%), and hyponatremia was reported in 3 patients (11%). There were no reports of hyperglycemia. Mean data reported in case series containing data from 63 patients showed that hypophosphatemia was a consistent finding but that other abnormalities were not consistently identified. Findings suggest that refeeding hypophosphatemia is not accompanied by a consistent pattern of biochemical or clinical abnormalities among case reports or case series of patients reported to have refeeding syndrome.

Feeding patterns and diet - babies and infants

MedlinePlus

... infants - feeding; Diet - age appropriate - babies and infants; Breastfeeding - babies and infants; Formula feeding - babies and infants ... You can see milk leaking or dripping while nursing. Your baby starts to gain weight; about 4 ...

Gorlin syndrome with bilateral polydactyly: a rare case report.

PubMed

Acharya, Sonu; Panda, Swagatika; Singh Dhull, Kanika; Sahoo, Sujit Ranjan; Ray, Prayas

2013-09-01

Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212.

Evaluation of the Components of the North Carolina Syndromic Surveillance System Heat Syndrome Case Definition.

PubMed

Harduar Morano, Laurel; Waller, Anna E

To improve heat-related illness surveillance, we evaluated and refined North Carolina's heat syndrome case definition. We analyzed North Carolina emergency department (ED) visits during 2012-2014. We evaluated the current heat syndrome case definition (ie, keywords in chief complaint/triage notes or International Classification of Diseases, Ninth Revision, Clinical Modification [ ICD-9-CM] codes) and additional heat-related inclusion and exclusion keywords. We calculated the positive predictive value and sensitivity of keyword-identified ED visits and manually reviewed ED visits to identify true positives and false positives. The current heat syndrome case definition identified 8928 ED visits; additional inclusion keywords identified another 598 ED visits. Of 4006 keyword-identified ED visits, 3216 (80.3%) were captured by 4 phrases: "heat ex" (n = 1674, 41.8%), "overheat" (n = 646, 16.1%), "too hot" (n = 594, 14.8%), and "heatstroke" (n = 302, 7.5%). Among the 267 ED visits identified by keyword only, a burn diagnosis or the following keywords resulted in a false-positive rate >95%: "burn," "grease," "liquid," "oil," "radiator," "antifreeze," "hot tub," "hot spring," and "sauna." After applying the revised inclusion and exclusion criteria, we identified 9132 heat-related ED visits: 2157 by keyword only, 5493 by ICD-9-CM code only, and 1482 by both (sensitivity = 27.0%, positive predictive value = 40.7%). Cases identified by keywords were strongly correlated with cases identified by ICD-9-CM codes (rho = .94, P < .001). Revising the heat syndrome case definition through the use of additional inclusion and exclusion criteria substantially improved the accuracy of the surveillance system. Other jurisdictions may benefit from refining their heat syndrome case definition.

[Report of a case with Joubert syndrome and literature review].

PubMed

Yi, Ya-hui; Li, Gang; Lu, Zhong-lie; Zhou, Jian-sheng; Yao, Zhen-wei; Wang, Peng-fei; Yao, Jin-xiang

2011-12-01

To explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS). The clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed. The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases (81.3%) showed "unusual motion of eyeball", 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign", "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage", "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%). Joubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath", "reduced tension of muscle", "slow growth" and "unusual motion of eyeball", and at the same time the patients had the following typical imaging features of brain: "molar tooth sign", "midline cleavage" and "bat-wing" like fourth ventricle.

Gorlin-Goltz syndrome: A series of three cases.

PubMed

Patankar, Amod P; Kshirsagar, Rajesh A; Dugal, Arun; Mishra, Akshay; Ram, Hari

2014-01-01

The Gorlin-Goltz syndrome (GGS) is also known as nevoid basal cell carcinoma syndrome. It is characterized by multiple keratocystic odontogenic tumors (KCOTs) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. The syndrome may be diagnosed early by a dentist during the routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article reports the series of 3 cases, emphasizing its clinical and radiographic manifestations of GGS.

The Baby Boomers’ Intergenerational Relationships

PubMed Central

Fingerman, Karen L.; Pillemer, Karl A.; Silverstein, Merril; Suitor, J. Jill

2012-01-01

Purpose: As Baby Boomers enter late life, relationships with family members gain importance. This review article highlights two aspects of their intergenerational relationships: (a) caregiving for aging parents and (b) interactions with adult children in the context of changing marital dynamics. Design and Methods: The researchers describe three studies: (a) the Within Family Differences Study (WFDS) of mothers aged 65–75 and their multiple grown children (primarily Baby Boomers) ongoing since 2001; (b) the Family Exchanges Study (FES) of Baby Boomers aged 42–60, their spouses, parents, and multiple grown children ongoing since 2008; and (c) the Longitudinal Study of Generations (LSoG) of 351 three-generation families started when the Baby Boomers were teenagers in 1971, with interviews every 3–5 years from 1985 to 2005. Results: These studies show that the Baby Boomers in midlife navigate complex intergenerational patterns. The WFDS finds aging parents differentiate among Baby Boomer children in midlife, favoring some more than others. The FES shows that the Baby Boomers are typically more involved with their children than with their aging parents; Boomers’ personal values, family members’ needs, and personal rewards shape decisions about support. The LSoG documents how divorce and remarriage dampen intergenerational obligations in some families. Moreover, loosening cultural norms have weakened family bonds in general. Implications: Reviews of these studies provide insights into how the Baby Boomers may negotiate caregiving for aging parents as well as the likelihood of family care they will receive when their own health declines in the future. PMID:22250130

Migration of bisphenol A from plastic baby bottles, baby bottle liners and reusable polycarbonate drinking bottles.

PubMed

Kubwabo, C; Kosarac, I; Stewart, B; Gauthier, B R; Lalonde, K; Lalonde, P J

2009-06-01

Human exposure to bisphenol A (BPA) has recently received special attention. It has been shown that exposure to BPA may occur through the consumption of beverages or foods that have been in contact with polycarbonate (PC) plastic containers or epoxy resins in food packaging. A BPA migration study was conducted using a variety of plastic containers, including polycarbonate baby bottles, non-PC baby bottles, baby bottle liners, and reusable PC drinking bottles. Water was used to simulate migration into aqueous and acidic foods; 10% ethanol solution to simulate migration to low- and high-alcoholic foods; and 50% ethanol solution to simulate migration to fatty foods. By combining solid-phase extraction, BPA derivatization and analysis by GC-EI/MS/MS, a very low detection limit at the ng l(-1) level was obtained. Migration of BPA at 40 degrees C ranged from 0.11 microg l(-1) in water incubated for 8 h to 2.39 microg l(-1) in 50% ethanol incubated for 240 h. Residual BPA leaching from PC bottles increased with temperature and incubation time. In comparison with the migration observed from PC bottles, non-PC baby bottles and baby bottle liners showed only trace levels of BPA. Tests for leachable lead and cadmium were also conducted on glass baby bottles since these represent a potential alternative to plastic bottles. No detectable lead or cadmium was found to leach from the glass. This study indicated that non-PC plastic baby bottles, baby bottle liners and glass baby bottles might be good alternatives for polycarbonate bottles.

Gorlin-Goltz syndrome: A rare case report.

PubMed

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-10-01

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts.

Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report

PubMed Central

Acharya, Sonu; Panda, Swagatika; Sahoo, Sujit Ranjan; Ray, Prayas

2013-01-01

ABSTRACT Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212. PMID:25206225

Fryns anophthalmia-plus syndrome: two rare cases.

PubMed

Bozkurt, O; Bidev, D; Sari, F N; Dizdar, E A; Ulu, H O; Uras, N; Oguz, S S; Canpolat, F E; Dilmen, U

2014-01-01

Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities. Here we present two different cases of APS with anopthalmia/microphthalmia, cleft palate, low set ears, ventriculomegaly and one of which had intestinal non-fixation anomaly not described in the literature before.

Shaken baby symptoms (image)

MedlinePlus

... is a severe form of head injury caused by the baby's brain rebounding inside of the baby's skull when shaken. In this injury there is bruising of the brain, swelling, pressure, and bleeding (intracerebral hemorrhage). This can easily lead ...

Gorlin-Goltz syndrome: A series of three cases

PubMed Central

Patankar, Amod P.; Kshirsagar, Rajesh A.; Dugal, Arun; Mishra, Akshay; Ram, Hari

2014-01-01

The Gorlin-Goltz syndrome (GGS) is also known as nevoid basal cell carcinoma syndrome. It is characterized by multiple keratocystic odontogenic tumors (KCOTs) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. The syndrome may be diagnosed early by a dentist during the routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article reports the series of 3 cases, emphasizing its clinical and radiographic manifestations of GGS. PMID:25937738

[Neonatal Pearson syndrome. two case studies].

PubMed

Collin-Ducasse, H; Maillotte, A-M; Monpoux, F; Boutté, P; Ferrero-Vacher, C; Paquis, V

2010-01-01

Among the etiologies of anemia in the newborn, those related to mitochondrial cytopathies are rare. Pearson syndrome is mostly diagnosed during infancy and characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells and exocrine pancreatic dysfunction. We describe two diagnosed cases of Pearson syndrome in the early neonatal period caused by severe macrocytic aregenerative anemia. Bone marrow aspiration revealed sideroblastic anemia and vacuolization of erythroblastic precursors. The diagnosis was confirmed by genetic analysis revealing a deletion in the mitochondrial DNA. These two newborns received monthly transfusions. Five other newborns suffering from Pearson syndrome with various clinical symptoms were found in literature. Pearson syndrome, rarely diagnosed in newborns, should be suspected in the presence of macrocytic aregenerative anemia and requires a bone marrow aspirate followed by a genetic analysis from a blood sample. Copyright 2009 Elsevier Masson SAS. All rights reserved.

Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report

ERIC Educational Resources Information Center

Saldarriaga, Wilmar; Ruiz, Fabian Andres; Tassone, Flora; Hagerman, Randi

2017-01-01

Background: Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Methods: Cytogenetic testing detected the presence of…

[Two cases of rehabilitation in Ehler-Danlos syndrome].

PubMed

Le Tallec, H; Lassalle, A; Khenioui, H; Durufle, A; Plassat, R; Gallien, P

2006-03-01

Ehlers-Danlos syndrome is rare and little known. It comprises a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility and tissue fragility. Diagnosis may be difficult and often delayed. Here we describe 2 cases of women with Ehlers-Danlos syndrome. The first had scoliosis with back pain and joint hypermobility. The second presented with hypermobility and joint dislocation, which increased during pregnancy. In these 2 cases, rehabilitation management produced clinical improvement. Orthopaedic complications such joint pain, joint swelling, joint dislocation, back pain, with walking and hand function disability are the main problems in Ehlers-Danos syndrome. Surgery may be necessary to correct dislocated joints but is often not sufficient to resolve the handicap, and physical therapy has an important place in management. Ehlers-Danlos syndrome is an evolving disease that can lead to great impairment. Thus, physicians must be aware of this syndrome to offer the best management, with the appropriate use of orthotic devices, specific strengthening routines, education in proper body mechanics and assistive devices, to prevent joint dislocation and subluxations responsible for pain and handicap.

Horner syndrome in glandular fever: a case report.

PubMed

West, E V; Sheerin, F; Bates, J E H M

2016-02-01

This study aimed to present and discuss the case of a patient with known glandular fever who presented with Horner syndrome. A 35-year-old patient with known glandular fever developed acute unilateral Horner syndrome, a previously undescribed complication of this common illness. Magnetic resonance imaging and magnetic resonance angiography showed that enlarged intra-carotid sheath lymphoid tissue was likely to be the underlying cause of sympathetic nerve disruption. The case is described, the anatomy of the sympathetic chain is discussed and possible alternative pathophysiological mechanisms are reviewed. This is the first report in the worldwide literature of Horner syndrome arising as a result of compression from enlarged lymph nodes in glandular fever.

What about the Dads: A Case Study of Young Fathers of Babies Born to Adolescent Mothers

ERIC Educational Resources Information Center

Scholl, Marilyn Faris

2012-01-01

Adolescent pregnancy remains a persistent societal problem. Both teenage mothers and the fathers of their babies are unprepared for parenthood and often drop out of school, take low-paying jobs, and never complete their education. Fathers of babies born to adolescent mothers are a critical but often forgotten component of the adolescent pregnancy…

Your Baby's First Year

MedlinePlus

... feeding, please see our CPF booklet and video series, Feeding Your Baby . An infant born with a cleft lip and/or palate should be ready to eat solid foods at the same time as any other baby. Foods should be offered ...

Rare association between cystic fibrosis, Chiari I malformation, and hydrocephalus in a baby: a case report and review of the literature

PubMed Central

2011-01-01

Introduction Cystic fibrosis, an epithelial cell transport disorder caused by mutations of the cystic fibrosis transmembrane conductance regulator gene, is not generally associated with malformations of the central nervous system. We review eight previously published reports detailing an infrequent association between cystic fibrosis and Chiari I malformation. Case presentation To the best of our knowledge, our report describes only the ninth case of a baby presenting with a new diagnosis of cystic fibrosis and Chiari I malformation, in this case in a 10-month-old, full-term Caucasian baby boy from the United States of America. Neurosurgical consultation was obtained for associated developmental delay, macrocephaly, bulging anterior fontanel, and papilledema. An MRI scan demonstrated an extensive Chiari I malformation with effacement of the fourth ventricle, obliteration of the outlets of the fourth ventricle and triventricular hydrocephalus without aqueductal stenosis. Our patient was taken to the operating room for ventriculoperitoneal shunt placement. Conclusions It is possible that the cystic fibrosis transmembrane conductance regulator gene may play a previously unrecognized role in central nervous system development; alternatively, this central nervous system abnormality may have been acquired due to constant valsalva from recurrent coughing or wheezing or metabolic and electrolyte imbalances that occur characteristically in cystic fibrosis. PMID:21838874

Clinical Spectrum of Autoerythrocyte Sensitization Syndrome: A Series of Five Cases

PubMed Central

Thokchom, Nandakishore Singh; Pradeepa, D.; Hafi, N. A. Bishurul; Verma, Kapila

2018-01-01

Autoerythrocyte sensitization syndrome (Gardner Diamond syndrome or GDS) is a rare syndrome characterized by painful and spontaneous purpura commonly affecting adult women, and is mostly associated with psychiatric illness. Diagnosis is mainly based on clinical presentation, exclusion of other simulating diseases, and psychiatric evaluation. Only few cases have been reported till date. We report five cases of spontaneous purpura with a normal investigation profile, except for iron deficiency anemia in 1 patient, of which three had associated underlying psychiatric illness. Autoerythrocyte sensitization test was positive in all our cases. Patients presenting with painful bruises without significant medical history such as underlying bleeding disorder or drug history or history of trauma should be considered for autoerythrocyte sensitization syndrome, and managed accordingly. The present study is a case series of patients with characteristic features of autoerythrocyte sensitization syndrome, considering the rarity of the reports on its clinical spectra. PMID:29644197

Neonatal Marfan Syndrome: Report of Two Cases

PubMed Central

Ghandi, Yazdan; S.Zanjani, Keyhan; Mazhari-Mousavi, Seyed-Eshagh; Parvaneh, Nima

2013-01-01

Background Neonatal Marfan syndrome is a rare and severe phenotype of this disease. A poor prognosis is anticipated due to the high probability of congestive heart failure, and mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management at an early age. Case Presentation We present two consecutive patients with this disease who are the first reported cases from Iran to the best of our knowledge. Unfortunately both of them died shortly after diagnosis. Conclusion Neonatal Marfan syndrome is reported from Iran and has a poor prognosis like the patients reported from elsewhere. PMID:23549323

Carpal Tunnel Syndrome in Aberrant Muscle Syndrome: A Case Report and Review of the Literature.

PubMed

Steele, Jessica; Coombs, Christopher

2018-06-01

Aberrant Muscle Syndrome (AMS) is a rare congenital hand difference that is characterised by unilateral non-progressive muscular hyperplasia. The aetiology of aberrant muscle syndrome is not known, but a recently published case has shown a somatic PIK3CA activating mutation in a patient with AMS. Carpal tunnel syndrome (CTS) in children is rare. The most common causes are the mucopolysaccaridoses but space-occupying lesions have also been reported to cause CTS in children. We report the first case of CTS in a child with AMS successfully treated with open carpal tunnel release and excision of aberrant muscles.

Gorlin-Goltz syndrome: A rare case report

PubMed Central

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-01-01

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts. PMID:24403808

DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report.

PubMed

Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

2018-04-01

The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Clinical improvement ensued. At follow-up the patient is well. The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities.

Baby-MIND neutrino detector

NASA Astrophysics Data System (ADS)

Mefodiev, A. V.; Kudenko, Yu. G.; Mineev, O. V.; Khotjantsev, A. N.

2017-11-01

The main objective of the Baby-MIND detector (Magnetized Iron Neutrino Detector) is the study of muon charge identification efficiency for muon momenta from 0.3 to 5 GeV/ c. This paper presents the results of measurement of the Baby-MIND parameters.

"Serpentine-like syndrome"-A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies.

PubMed

Beleza-Meireles, Ana; Steenhaut, Patricia; Hocq, Catheline; Clapuyt, Philippe; Bernard, Pierre; Debauche, Christian; Sznajer, Yves

2017-02-01

"Serpentine-like syndrome" is a severe and rare association of multiple congenital malformations, characterised by brachioesophagus, secondary intrathoracic stomach, and vertebral anomalies. Other associated anomalies have been described, such as malposition and herniation of abdominal organs. We report the natural history of a baby girl born at 29 weeks of gestation with intra uterine growth restriction, short neck, large rachischisis from cervical to thoracic spine, a very short oesophagus, thoracic stomach associated with a midline diaphragmatic hernia, malrotated gut and median cleft lip. Most of these anomalies were detected antenatally. Molecular karyotype was normal. She died at age 12 days. To our knowledge, the present patient represents the 8th report of a case of "Serpentine-like syndrome". Brachioesophagus and congenital vertebral anomalies, in particular rachischisis, are the cardinal features of this condition. All reported cases have been sporadic and the cause is still unknown. We believe that the specificity of the presentation as well as the similarities between available descriptions of patients suggests a common, yet to identify, molecular cause, possibly involving a developmental "toolkit"/homeobox gene or related pathways. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Visiting your baby in the NICU

MedlinePlus

... the baby. This can seem scary to new parents. They are not hurting the baby. Some tubes and wires are connected to monitors. They check the baby's breathing, heart rate, blood pressure, and temperature at all times. A tube through ...

Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report

PubMed Central

2011-01-01

Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches. PMID:22054059

Successful treatment with tacrolimus in TAFRO syndrome: two case reports and literature review.

PubMed

Shirai, Taiichiro; Onishi, Akira; Waki, Daisuke; Saegusa, Jun; Morinobu, Akio

2018-06-01

TAFRO syndrome is a systemic inflammatory disorder characterized by thrombocytopenia, anasarca, fever, reticulin fibrosis, renal dysfunction, and organomegaly. In contrast to that in multicentric Castleman disease, interleukin-6 targeting strategies seem ineffective in some TAFRO syndrome cases; however, the optimal treatment remains unclear. Here, we report 2 cases of TAFRO syndrome, where 1 with cardiomyopathy, successfully treated with tacrolimus. This is the first case report of successful treatment with tacrolimus in TAFRO syndrome. Both patients (cases 1 and 2) developed fever, anasarca, thrombocytopenia, renal dysfunction, and mild hepatosplenomegaly. In both patients, lymph node pathology revealed mixed type Castleman disease-like features, and bone marrow showed reticulin myelofibrosis. TAFRO syndrome was diagnosed based on the patients' laboratory, clinical, and pathologic findings. In case 2, we observed a rare complication of cardiomyopathy with no evidence of takotsubo cardiomyopathy or viral myocarditis. In case 1, tocilizumab combined with glucocorticoids was ineffective and caused septic shock; additionally, cyclosporine A was discontinued because of hepatotoxicity. However, tacrolimus was effective in resolving TAFRO syndrome without any adverse events. In case 2, tacrolimus completely reversed TAFRO syndrome and was also effective in cardiomyopathy. This report suggests that tacrolimus is potentially effective and safe as an initial treatment and a glucocorticoid-sparing agent. Our literature review shows that calcineurin inhibitors, including tacrolimus, may be effective in TAFRO syndrome. Since previous studies indicate a role of Th1 inflammation in TAFRO syndrome pathogenesis, tacrolimus may, therefore, be effective in treating TAFRO syndrome.

Assessing state efforts to meet baby boomers' long-term care needs: a case study in compensatory federalism.

PubMed

Pandey, Sanjay K

2002-01-01

The role of the state government and the character of federal-state relations in social policy have evolved considerably. Frank Thompson uses the phrase compensatory federalism to describe increased activity by state governments to make up for a diminished federal role. For compensatory federalism to work, it is essential for states to take leadership roles in key policy areas. Few studies examine whether states have risen to the challenge of compensatory federalism in social policy. This paper examines an emerging issue of great significance in social policy-challenges involved in meeting future long-term care needs for the baby boomer generation. The paper provides an in-depth case study of attempts by Maryland to meet the challenges of financing long-term care needs for the baby boomer generation. The detailed description of the agenda-setting and problem-structuring process in Maryland is followed by an analysis that uses three different frameworks to assess the policy development processes. These models are rooted in a bureaucratic politics perspective, an agenda-setting perspective and an interest group politics perspective. The paper concludes with a discussion of the limitations and possibilities of state leadership in the social policy sphere.

A case report of acute myelogenous leukemia with Turner Syndrome.

PubMed

Siddiqui, Nadir; Ali Baig, Mirza Faris; Khan, Bilal Ahmed

2017-09-01

Turner Syndrome was diagnosed in a 45 years old female, known case of Acute Myeloid Leukaemia (AML) with maturation, on Bone Marrow biopsy. She presented with blurred vision, vertigo, exertional dyspnoea and insomnia. She did not show the typical features of Turner syndrome, but her cytogenetis confirmed the diagnosis. Bone marrow biopsy showed diffuse infiltration of blast cells with cellularity around 80-85% and haematopoietic suppression. Karyotype analysis showed: 45 X, -X, t (8; 21) (q22; q22) [According to The International System for Human Cytogenetic Nomenclature (ISCN)]. Turner syndrome is caused by partial or complete absence of second X chromosome in a female. It is known to have Cardiovascular and Reproductive complications but it is rare to find haematologic malignancies. There are few similar reported cases of AML associated with Turner syndrome, therefore this is a unique case presented to Jinnah Postgraduate Medical Center, Karachi, Pakistan and further research should be done to identify more similar cases to explore the prognostic significance of this association.

Newborn Screening Tests for your Baby

MedlinePlus

... decides which tests are required. Ask your baby’s health care provider which tests your baby will have. If your baby has ... state requires different tests, so ask your baby’s health care provider which tests your baby will have. You also can visit ...

Weight change in the term baby in the first 2 weeks of life.

PubMed

Crossland, D S; Richmond, S; Hudson, M; Smith, K; Abu-Harb, M

2008-04-01

Midwives once used serial weighing to highlight lactation problems, but this is now discouraged for the fear of undermining maternal confidence. To explore weight changes in healthy newborn term babies, to gain information to aid interpretation of such measurements and to construct a centile chart for those exclusively breastfed during the first 2 weeks. Two hundred ninety-nine mothers weighed their baby daily using the same electronic scales. In 46 cases, three or more consecutive measurements were omitted leaving 253 series to evaluate, of which 111 were exclusively breastfed. Breastfed babies lost a mean 6.4% of birthweight (95% CI: 5.5-7.3%) before starting to gain, and 54% took more than 8 days to regain birthweight. Artificially fed babies lost less (3.7%, 95% CI: 2.7-4.7%), but 39% had not regained their birthweight by 8 days. Once birthweight was regained, average gain was about 1% of birthweight per day in both breast- and artificially-fed babies. Measurements less than 5 days apart predicted average weight gain poorly. Feeding problems should be considered if weight is not increasing by 6 days, but some healthy babies take 17 days to regain their birthweight.

[RS3PE syndrome: presentation of two cases].

PubMed

Parra Ródenas, J V; Calvo Catalá, J; González-Cruz Cervellera, M I; Cervera Moscardó, J; Valero Prieto, I

1996-12-01

Recently, the syndrome of remitting seronegative symmetrical synovitis with pitting edema (RS3PE), has been proposed. The RS3PE syndrome has an acute onset, does not produce bony erosions, with a predilection for elderly patients and an excellent prognosis. This condition distinguishing if from rheumatoid arthritis and polymyalgia rheumatica. The purpose is to call attention to a benign forms of arthritis in aging patients. We report two cases of RS3PE syndrome.

Severe periodontitis in Marfan's syndrome: a case report.

PubMed

Straub, Antje M; Grahame, Rodney; Scully, Crispian; Tonetti, Maurizio S

2002-07-01

Connective tissue disorders, such as some forms of Ehlers-Danlos syndrome, have been associated with severe periodontitis. This report describes a case of Marfan's syndrome, an inherited disorder of connective tissue caused by mutations in the fibrillin-1 gene, in which the patient presented with severe periodontitis. At examination, an average full-mouth clinical attachment level loss of 5.6+/-2.1 mm, furcation involvement, and severe alveolar bone loss were observed in a 41-year-old Caucasian male. Tooth hypermobility was also present. This case appears to be the first documentation of severe periodontitis in a patient with Marfan's syndrome. It supports the hypothesis that a variety of connective tissue disorders may confer increased susceptibility to periodontal tissue breakdown.

[Psychosis Associated With Fahr's Syndrome: A Case Report].

PubMed

Cassiani-Miranda, Carlos Arturo; Herazo-Bustos, Mariana; Cabrera-González, Armando; Cadena-Ramos, Ivan; Barrios-Ayola, Francisco

2015-01-01

Fahr syndrome (SF) is a rare neurological disorder, characterized by abnormal deposition of calcium in brain areas that control movement. The case is presented of a 41-year-old female with a convulsive syndrome, psychotic disorder, neurocognitive disorde,r and intellectual disability associated with bilateral brain calcifications and altered calcium/phosphorus metabolism in the context of hypoparathyroidism. Case report. The calcifications found in the patient could be the cause of psychotic symptoms and cognitive impairment. Diagnostic imaging, laboratory tests, psychiatric and neuropsychological assessments are presented. The clinical presentation of this case is compared with similar ones reported in the literature. Therapeutic approaches and clinical outcomes are described. Fahr's syndrome should be suspected in patients with neuropsychiatric disorders and seizures. Neuroimaging studies, and the determining of phosphorus and calcium metabolism and parathyroid hormone levels are important in this type of patient. Copyright © 2015 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Successful treatment with tacrolimus in TAFRO syndrome: two case reports and literature review

PubMed Central

Shirai, Taiichiro; Onishi, Akira; Waki, Daisuke; Saegusa, Jun; Morinobu, Akio

2018-01-01

Abstract Rationale: TAFRO syndrome is a systemic inflammatory disorder characterized by thrombocytopenia, anasarca, fever, reticulin fibrosis, renal dysfunction, and organomegaly. In contrast to that in multicentric Castleman disease, interleukin-6 targeting strategies seem ineffective in some TAFRO syndrome cases; however, the optimal treatment remains unclear. Here, we report 2 cases of TAFRO syndrome, where 1 with cardiomyopathy, successfully treated with tacrolimus. This is the first case report of successful treatment with tacrolimus in TAFRO syndrome. Patient concerns: Both patients (cases 1 and 2) developed fever, anasarca, thrombocytopenia, renal dysfunction, and mild hepatosplenomegaly. Diagnoses: In both patients, lymph node pathology revealed mixed type Castleman disease-like features, and bone marrow showed reticulin myelofibrosis. TAFRO syndrome was diagnosed based on the patients’ laboratory, clinical, and pathologic findings. In case 2, we observed a rare complication of cardiomyopathy with no evidence of takotsubo cardiomyopathy or viral myocarditis. Interventions and outcomes: In case 1, tocilizumab combined with glucocorticoids was ineffective and caused septic shock; additionally, cyclosporine A was discontinued because of hepatotoxicity. However, tacrolimus was effective in resolving TAFRO syndrome without any adverse events. In case 2, tacrolimus completely reversed TAFRO syndrome and was also effective in cardiomyopathy. Lessons: This report suggests that tacrolimus is potentially effective and safe as an initial treatment and a glucocorticoid-sparing agent. Our literature review shows that calcineurin inhibitors, including tacrolimus, may be effective in TAFRO syndrome. Since previous studies indicate a role of Th1 inflammation in TAFRO syndrome pathogenesis, tacrolimus may, therefore, be effective in treating TAFRO syndrome. PMID:29879072

[Analysis of the clinical audiological characteristics in 92 Chinese Alport syndrome cases].

PubMed

Chen, Li; Xue, Junfang; Zhang, Yanqin; Wang, Fang; Chen, Siqi; Duan, Jibo; Liu, Yuhe; Ding, Jie

2014-11-01

To analyze the clinical audiological characteristics in Chinese Alport syndrome, and investigate the relationship between the genotypes of Alport syndrome and hearing phenotype. The clinical hearing data of 92 cases diagnosed as Alport syndrome from 2008 August to 2013 August were reviewed and analyzed. All coding exons of COL4A3 and COL4A5 genes were PCR-amplified and sequenced from genomic DNA, or mRNA of COL4A5 gene was RT-PCR-amplified and sequenced from skin fibroblast in 17 cases. Eighty-seven out of 92 cases were found with X-linked dominant inheritance (XLAS); 5 cases with autosomal recessive (ARAS); 44 cases had normal hearing, but 14 young cases had abnormal OAE; 48 cases (52.2%, 35 male, 13 female) had sensorineural hearing loss. A total of 44 cases with XLAS had hearing loss (49.4%), wherein the incidence of hearing impairment was 55.0% in male XLAS, and 37.0% in female XLAS. Mild and moderate hearing loss were found in XLAS. Audiometric curves including groove type (21 cases), descending type (13 cases), flat type (10 cases), high frequency drop type (3 cases) and ascending type (1 case) were found in AS. Sixteen mutations of COL4A3, COL4A5 gene were found in 17 cases with Alport syndrome, including severe mutation in 8 cases with moderate hearing impairment. Mild and moderate hearing impairment, and groove type of audiometric curve are mainly found in Chinese Alport syndrome, which is different from Alport syndrome in western countries. OAE in the early diagnosis of hearing loss is important. Hearing phenotype is related certainly with genotype.

A Rare Disorder with Common Clinical Presentation: Neonatal Bartter Syndrome.

PubMed

Hussain, Shabbir; Tarar, Saba Haider; Al-Muhaizae, Muhammad

2015-04-01

Bartter syndrome is an autosomal recessive renal tubulopathy that presents with hypokalemic, hypochloremic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninemia and hyperaldosteronemia but normotension. A full term male neonate was referred at 20-day of age with features of sepsis and respiratory distress. He was evaluated and managed as case of septicemia with all supportive paraphernalia including mechanical ventilation. Investigations revealed electrolytes imbalance and metabolic alkalosis suggestive of Neonatal Bartter Syndrome (NBS). Raised aldosterone and renin levels confirmed the diagnosis. Electrolyte imbalance was corrected with fluids and indomethacin, treated successfully, discharged and parents counseled. He was thriving well at 9 months of age. Another 2 months old male baby presented with recurrent episodes of lethargy with dehydration and failure to gain weight. Investigations confirmed the diagnosis of NBS. He was also successfully treated with same medication. We report these 2 cases because of the rarity of NBS, presentation of which may mimic common illnesses like sepsis and gastroenteritis.

[A case of Isaacs' syndrome associated with dextrocardia].

PubMed

Torres, L; Cosentino, C; Vélez, M; Anicama, A

Isaacs syndrome is a disorder of unknown etiology characterized by muscular rigidity, cramps and myokymias. Described by Isaacs in 1961 and called by him as continuous muscular activity syndrome. There are few reports in Latino american countries. A 31 year-old man with sustained muscular contractions in lower limbs and diffuse myokymias since he was eighteen-year old. Dextrocardia was disclosed on clinical examination. We report the case of a patient with Isaacs syndrome and dextrocardia.

Mental health: outcomes of 10 babies of mothers with a history of serious mental illness.

PubMed

McCauley, K M; Cross, W; Kulkarni, J

2014-09-01

Women with serious mental illness are frequently on antipsychotic medications to maintain their mental health. During pregnancy there is much debate as to whether to continue or cease these medications. The possibility of adverse effects is of concern to clinicians and the women. This study used a case study methodology to identify the outcomes for 10 babies of women with a history of serious mental illness. The results provide further evidence in regard to women and the use of antipsychotic medications throughout pregnancy and during the first year after birth. Separation of mother and baby occurred in five of the 10 babies. This study identifies the neonatal complications for these vulnerable babies as not outside the norm for births in Australia. The high rate of mother-baby separation is of great concern and needs further longitudinal studies. © 2013 John Wiley & Sons Ltd.

Rumination syndrome in ethiopia: a case study.

PubMed

Bruni, Andrea

2014-01-01

Eating disorders are commonly believed to be rare or nonexistent in Africa. However, due to exposure to Western culture, a rise in eating disorders among African women is reported in the literature. This case study describes a 17-year-old Ethiopian girl who meets the DSM-IV-TR and DSM-5 diagnostic criteria for bulimia nervosa and the Rome III Diagnostic Criteria for Functional Gastrointestinal Disorders criteria for rumination syndrome. The article discusses the diagnostic delays, the difficulties in terms of therapy, and the context determinants that-combined with individual psychopathological features-are thought to contribute to the disorders. Health professionals should be informed about the prevalence of eating disorders in Africa and, more specifically, of rumination syndrome in young women with normal intelligence. In light of this case study, it seems necessary to raise awareness with regard to the insufficient evidence on effective therapies for rumination syndrome in individuals without intellectual impairment.

Rumination Syndrome in Ethiopia: A Case Study

PubMed Central

2014-01-01

Eating disorders are commonly believed to be rare or nonexistent in Africa. However, due to exposure to Western culture, a rise in eating disorders among African women is reported in the literature. This case study describes a 17-year-old Ethiopian girl who meets the DSM-IV-TR and DSM-5 diagnostic criteria for bulimia nervosa and the Rome III Diagnostic Criteria for Functional Gastrointestinal Disorders criteria for rumination syndrome. The article discusses the diagnostic delays, the difficulties in terms of therapy, and the context determinants that—combined with individual psychopathological features—are thought to contribute to the disorders. Health professionals should be informed about the prevalence of eating disorders in Africa and, more specifically, of rumination syndrome in young women with normal intelligence. In light of this case study, it seems necessary to raise awareness with regard to the insufficient evidence on effective therapies for rumination syndrome in individuals without intellectual impairment. PMID:25667799

Understanding How Babies Build Language Skills

ERIC Educational Resources Information Center

Honig, Alice Sterling

2006-01-01

Language is a great communication system. Through language, humans can express logical reasoning, grief, happiness, wishes, descriptions, and a rich array of feelings and ideas. Every baby deserves the gift of language power! In this article, the author discusses how babies build language skills and presents activities to help babies build…

[Neuropsychiatric symptoms in Sotos syndrome. Case report and review of the literature].

PubMed

Kessler, Holger; Kraft, Susanne

2008-01-01

Sotos syndrome, or cerebral gigantism, is a rare genetic syndrome characterized by excessive growth during childhood, macrocephaly, distinctive facial gestalt and learning difficulties. It is caused by mutations or deletions of the NSD-1 gene. Most cases are sporadic. Apart from a number of physical abnormalities that are commonly present, a high prevalence of cognitive, emotional and behavioural problems in children with Sotos syndrome can be assumed. However, there has been almost no literature about psychiatric symptoms in adults with Sotos syndrome so far; one case of psychosis was reported. In the present case, the authors present psychopathological features of an adult patient with Sotos syndrom who developed - among other things - psychotic symptoms.

Interest in Babies during Young Adulthood.

ERIC Educational Resources Information Center

Feldman, S. Shirley; Nash, Sharon Churnin

1978-01-01

Interest in babies was studied in 120 young adult males and females belonging to four stages of life: cohabiting singles, childless-married couples, expecting first child, and parents of an infant. Measures included responsivity to an unfamiliar baby, interest in pictures of babies, and a sex-role self-concept inventory. (Author/JMB)

Thyroxine-Based Screening for Congenital Hypothyroidism in Neonates with Down Syndrome.

PubMed

Erlichman, Ira; Mimouni, Francis B; Erlichman, Matityahu; Schimmel, Michael S

2016-06-01

To ascertain whether thyroxine (T4)-based screening programs for congenital hypothyroidism (initial measurement of total T4 [tT4] followed by thyroid stimulating hormone [TSH] measurement in patients with tT4 <10th percentile) identifies congenital hypothyroidism in all neonates with Down syndrome. Retrospective cohort study of 159 neonates with Down syndrome, born during the period 1998-2007 were included. Screening test results were compared with those of the general population. All primary care physicians of these infants were contacted and infants' thyroid status verified. tT4 concentrations in children with Down syndrome were significantly lower, and TSH higher than those in the general population; tT4 concentrations did not correlate with screening TSH concentrations. Twenty children with Down syndrome were treated with L-thyroxin within the first month of life although only 10 babies had been identified by the routine screening test. T4-based screening does not identify many cases of congenital hypothyroidism in neonates with Down syndrome. We recommend that neonates with Down syndrome be screened by simultaneous measurements of both tT4 and TSH. Copyright © 2016 Elsevier Inc. All rights reserved.

Persistent Mullerian Duct Syndrome: an interesting case report.

PubMed

Farag, S; Sutton, P; Leow, K S; Kosai, N R; Razman, J; Hanafiah, H; Das, S

2013-01-01

Transverse testicular ectopia is an uncommon disorder of testicular ectopia. Nearly thirty percent of the cases is associated with Persistent mullerian duct syndrome which is characterized by karyotypically normal males with retained mullerian derivatives. Understanding the natural process of the condition and the association with malignant potential will allow for a better understanding of the optimal surgical approach. This is a case report of young male presented a left sided inguinal hernia in which the sac contained both testes and uterus. The literature review of the syndrome will be discussed.

An Overlap Syndrome of Pigment Dispersion and Pigmentary Glaucoma accompanied by Marfan Syndrome: Case Report with Literature Review.

PubMed

Chakravarti, Tutul; Spaeth, George

2013-01-01

'Overlap syndrome' describes the situation in which two or more 'independent' conditions are present, either one of which could cause a particular finding. This current presentation reports a case with bilateral pigment dispersion syndrome (PDS), advanced pigmentary glaucoma (PG), and the Marfan syndrome, with bilateral subluxation of the lenses, and large short-term and long-term fluctuations of intraocular pressure. It is interesting to consider whether the associated advanced glaucomatous nerve damage could be a manifestation of just the PDS, just the Marfan syndrome, or rather a combination of these two overlapping independent conditions. How to cite this article: Chakravarti T, George S. An Overlap Syndrome of Pigment Dispersion and Pigmentary Glaucoma accompanied by Marfan Syndrome: Case Report with Literature Review. J Current Glau Prac 2013;7(2):91-95.

Bobble-head doll syndrome associated with Dandy-Walker syndrome. Case report.

PubMed

de Brito Henriques, José Gilberto; Henriques, Karina Santos Wandeck; Filho, Geraldo Pianetti; Fonseca, Luiz Fernando; Cardoso, Francisco; Da Silva, Márcia Cristina

2007-09-01

Bobble-head doll syndrome (BHDS) presents in childhood and is usually associated with lesions of the third ventricle. This disorder is characterized by stereotypical head movements of the type "yes-yes" (up and down) at a frequency of 2 to 3 Hz. Rarely, movements of the type "no-no" (side-to-side) are described. There are a few hypotheses to explain the mechanism responsible for BHDS, but its real pathophysiological characteristics are still unknown. The authors describe the case of a child born with hydrocephalus and Dandy-Walker syndrome. A ventriculoperitoneal shunt was implanted in the child because of progressive head enlargement. One year after shunt placement, she began making frequent horizontal head movements of the type "no-no". There were no other signs or symptoms. Imaging studies demonstrated small ventricles and a posterior fossa cyst with no signs of hypertension. The child's growth, development, and head circumference (within the 5th percentile) remained satisfactory. Three aspects of this case were of interest: the association of BHDS with Dandy-Walker syndrome, the rare occurrence of BHDS of the "no-no" type, and the absence of third ventricle dilation. The authors' findings support the hypothesis that cerebellar malformations themselves can

Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report

PubMed Central

2013-01-01

Introduction Classic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene. Although growth hormone deficiency has been suggested as a cause for persistent growth failure in patients with classic Bartter syndrome, in our opinion the diagnoses of growth hormone deficiency has been unconvincing in some reports. Moreover, Gitelman syndrome seems to have been confused with Bartter syndrome in some cases in the literature. In the present work, we describe a new case with CLCNKB gene mutations and review the reported cases of classic Bartter syndrome associated with growth hormone deficiency. Case presentation Our patient was a Japanese boy diagnosed as having classic Bartter syndrome at eight months of age. The diagnosis of Bartter syndrome was confirmed by CLCNKB gene analysis, which revealed compound heterozygous mutations with deletion of exons 1 to 3 (derived from his mother) and ΔL130 (derived from his father). His medical therapy consisted of potassium (K), sodium chloride, spironolactone, and anti-inflammatory agents; this regime was started at eight months of age. Our patient was very short (131.1cm, -4.9 standard deviation) at 14.3 years and showed profoundly impaired growth hormone responses to pharmacological stimulants: 0.15μg/L to insulin-induced hypoglycemia and 0.39μg/L to arginine. His growth response to growth hormone therapy was excellent. Conclusions The present case strengthens the association between classic Bartter syndrome and growth hormone deficiency. We propose that growth hormone status should be considered while treating children with classic Bartter syndrome. PMID:24377430

Babies in boxes and the missing links on safe sleep: Human evolution and cultural revolution.

PubMed

Bartick, Melissa; Tomori, Cecília; Ball, Helen L

2018-04-01

Concerns about bedsharing as a risk for sudden infant death syndrome and other forms of sleep-associated infant death have gained prominence as a public health issue. Cardboard "baby boxes" are increasingly promoted to prevent infant death through separate sleep, despite no proof of efficacy. However, baby boxes disrupt "breastsleeping" (breastfeeding with co-sleeping) and may undermine breastfeeding. Recommendations enforcing separate sleep are based on 20th century Euro-American social norms for solitary infant sleep and scheduled feedings via bottles of cow's milk-based formula, in contrast to breastsleeping, an evolutionary adaptation facilitating the survival of mammalian infants for millennia. Interventions that aim to prevent bedsharing, such as the cardboard baby box, fail to consider the implications of evolutionary biology or of ethnocentrism in sleep guidance. Moreover, the focus on bedsharing neglects more potent risks such as smoking, drugs, alcohol, formula feeding, and poverty. Distribution of baby boxes may divert resources and attention away from addressing these other risk factors and lead to a false sense of security wherein we overlook that sudden unexplained infant deaths also occur in solitary sleep environments. Recognizing breastsleeping as the evolutionary and cross-cultural norm entails re-evaluating our research and policy priorities, such as providing greater structural support for families, supporting breastfeeding and safe co-sleeping, investigating ways to safely minimize separation for formula-fed infants, and mitigating the potential harms of mother-infant separation when breastsleeping is disrupted. Resources would be better spent addressing such questions rather than on a feel-good solution such as the baby box. © 2017 John Wiley & Sons Ltd.

The myth of the miracle baby: how neonatal nurses interpret media accounts of babies of extreme prematurity.

PubMed

Green, Janet; Darbyshire, Philip; Adams, Anne; Jackson, Debra

2015-09-01

Improved life sustaining technology in the neonatal intensive care unit (NICU) has resulted in an increased probability of survival in extremely premature babies. Miracle baby stories in the popular press are a regular occurrence and these reports are often the first source from which the general public learn about extremely premature babies. The research from which this paper is drawn sought to explore the care-giving and ethical dilemmas of neonatal nurses when caring for extremely premature babies 24 weeks gestation and less. This current paper aims to outline the views of neonatal nurses on miracle baby stories in the media. Data were collected via a questionnaire to 760 Australian neonatal nurses with 414 returned, representing a response rate of 54.4%. Narrative was collected from semi-structured interviews with 24 experienced neonatal nurses in NSW, Australia. A qualitative approach utilising thematic analysis was utilised to analyse the data. The theme the myth of the miracle baby is seen as generating myths and unrealistic expectations on the part of vulnerable families and the public. Neonatal nurses, as the primary caregivers for tiny babies and their families, viewed popular media publications with suspicion, believing published reports to be incomplete, inaccurate and biased towards the positive. © 2015 John Wiley & Sons Ltd.

Protecting Your Baby from RSV

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... Size Email Print Share Protecting Your Baby from RSV Page Content Article Body RSV is the most ... Your Baby's Chances of Developing a More Serious RSV Infection: Having people wash their hands with warm ...

Baby Naps: Daytime Sleep Tips

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... but the process of getting your baby to sleep during the day can be just the opposite. ... It takes awhile for newborns to develop a sleep schedule. During the first month, babies usually sleep ...

Your Premature Baby: Low Birthweight

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... Quality Collaboratives Launch Prematurity research centers What is team science? More than 75 years of solving problems ... to our health educators. GO On your baby's team Meet the people caring for your baby in ...

The nasogastric tube syndrome: two case reports and review of the literature.

PubMed

Apostolakis, L W; Funk, G F; Urdaneta, L F; McCulloch, T M; Jeyapalan, M M

2001-01-01

The nasogastric tube syndrome is a potentially life-threatening complication of an indwelling nasogastric (NG) tube. The syndrome is thought to result from ulceration and infection of the posterior cricoid region with subsequent dysfunction of vocal cord abduction. This dysfunction may present as complete loss of vocal cord abduction manifested as serious airway compromise. Reports of this syndrome are infrequent, with only 29 cases published to date. Two additional cases of nasogastric tube syndrome diagnosed at the University of Iowa Hospitals and Clinics over a 2-year period are presented. A search of MEDLINE (1966 through February 1999), including review of those articles' references identified seven previous publications, including 29 case reports. These 29 cases are reviewed and the findings summarized. Twenty-nine cases of NG tube syndrome are identified, with 16 of these occurring in the preantibiotic period. Including the two cases presented here, 15 contemporary patients are examined. Among these 15 cases, 10 required tracheostomy, on average 8.5 days after NG tube placement. Although the fully manifested syndrome presents quite dramatically, we suspect that a clinical spectrum of severity exists with less severe cases going unrecognized. Consistent with previous reports, we found that direct visualization of the postcricoid region is required to rule out the diagnosis and recommend such action be taken whenever the diagnosis is suspected. Treatment should include establishment of a safe airway, removal of the tube whenever possible, antibiotic therapy, and antireflux therapy.

Preschool Teacher Attitude and Knowledge Regarding Fetal Alcohol Syndrome and Fetal Alcohol Effects.

ERIC Educational Resources Information Center

Mack, Faite R-P.

The Centers for Disease Control estimate that each year more than 8,000 Fetal Alcohol Syndrome (FAS) babies are born, and that many more babies go undiagnosed with Fetal Alcohol Effects (FAE), a less severe condition. FAS and FAE have been identified as major contributors to poor memory, shorter attention spans, lower IQs, diminished achievement…

[Development of a screening scale for children at risk of baby bottle tooth decay].

PubMed

Khadra-Eid, J; Baudet, D; Fourny, M; Sellier, E; Brun, C; François, P

2012-03-01

Baby bottle tooth decay is a severe form of early childhood caries. This study aims to elaborate a screening tool for at risk children in order to facilitate primary prevention. A case-control study was conducted among children suffering from baby bottle tooth decay and children with no dental caries. Cases were children aged 5 years or less at diagnosis who experienced at least four caries with one or more affecting maxillary incisors. Controls were children matched for age and sex. Parents were interviewed by phone about their child's exposure to potential risk factors. We included 88 children suffering from baby bottle tooth decay and 88 children with no dental caries. In multivariate analysis, low social class (OR 6.39 [95% CI, 1.45-28.11]), prolonged bottle feeding or bedtime feeding (OR 153.2 [95% CI, 11.77-1994.96]), and snacking (OR 5.94 [95% CI, 1.35-26.2]) were significantly associated with baby bottle tooth decay. Regular dental visits were a significant protecting factor (OR 0.13 [95% CI, 0.02-0.77]). A score was developed using these significant risk factors and tested on the survey population. The mean score was 13/20 for cases and 4/20 for controls. These results are in accordance with the literature, except for brushing teeth, which was not significantly associated with baby bottle tooth decay in our study. A screening scale with a score of 20 points was proposed. Future validation is required. Pediatricians and general practitioners should encourage parents to change their habits. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

The trisomy 18 syndrome

PubMed Central

2012-01-01

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%. Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common

["Designer baby" changed to French for "double hope baby"].

PubMed

Fagniez, P-L; Loriau, J; Tayar, C

2005-10-01

Scientific advances during the last decades regarding potential intervention on embryos arouse many questions in society to prepare the ground concerning the limits that should be set for these practices. For the first time in 1994, a parliamentary proceeding allowed the definition of a French model of bioethics through laws of the same name. These laws, among others, authorized in a well and strictly defined setting the practice of preimplantation genetic diagnosis (PGD). Because of technical progress concerning PGD, new questions arose, especially concerning the accomplishment of designer babies. The French Chamber of Representatives came in with a new law that banishes the concept of designer babies and replaces it with another concept: double hope babies, in French "bébé du double espoir". A first hope of a pregnancy giving birth to a healthy child and the second being that this child conceived with the aid of PGD could help treat an elder brother. Because of the issuing of two specific laws in a ten years interval, France occupies a privileged place in a Europe where bioethical issues continue to be debated, particularly PGD.

Preoperative vaginal preparation with baby shampoo compared with povidone-iodine before gynecologic procedures.

PubMed

Lewis, Linda A; Lathi, Ruth B; Crochet, Patrice; Nezhat, Camran

2007-01-01

The objective of this study was to compare the postoperative infection rates between patients receiving either povidone-iodine (PI) or baby shampoo vaginal preparations before gynecologic surgery. Cohort study (Canadian Task Force classification II-2). University referral center for gynecologic endoscopy. All patients underwent minimally invasive gynecologic surgery including hysteroscopy or laparoscopy. The agents used for vaginal preparation were either baby shampoo in a 1:1 dilution with sterile normal saline solution or PI 7.5% scrub solution. Charts were reviewed for evidence of infection within 30 days of surgery (symptoms of urinary tract infection, abdominal or vaginal wound infections, temperature > 100.4 degrees F, and fungal or bacterial vaginitis). A total of 249 cases were collected; 96 subjects underwent surgery before the change to baby shampoo and 153 subjects after. Both groups were well matched for the types of surgery performed, age, risk factors for postoperative infections, and the postoperative diagnosis. The infection rates were 14/96 (14.6%) with PI preparation versus 18/153 (11.8%) with baby shampoo (p = .52). Baby shampoo should be studied as an alternative to PI because it is a nonirritating, inexpensive mild detergent. This preliminary study suggests that baby shampoo is as effective as PI in preventing postoperative infection.

Risky Behaviors of Mothers with Infants on Sudden Infant Death Syndrome in Turkey.

PubMed

Erdoğan, Çiğdem; Turan, Türkan

Sudden infant death syndrome is the most common cause of death during the post-neonatal period. Factors such as sleeping position, bed sharing, pillow use, smoking during pregnancy and the breastfeeding period constitute risk factors for sudden infant death syndrome. This study aims to identify the risky behaviors of mothers with infants that may put their children at risk for sudden infant death syndrome. This is a cross-sectional, descriptive study. Data were collected using a questionnaire that was developed by the researchers. The questionnaire was filled out by 456 mothers who applied to the family health center between October 2014 and January 2015. The greatest risk factor is the infant's sleeping position. A total of 77.9% of the mothers put their babies in bed in a non-supine position; 65.8% used a pillow when they put their babies in bed, 52.9% used a soft mattress, and 28.5% shared their beds with their babies. Prone sleeping was more likely to occur when smoke was present in the home or a pillow was used. Nurses should notify families of the risky behaviors that can cause sudden infant death syndrome and plan appropriate nursing care. Copyright © 2017 Elsevier Inc. All rights reserved.

Rotational Symmetry Breaking in Baby Skyrme Models

NASA Astrophysics Data System (ADS)

Karliner, Marek; Hen, Itay

We discuss one of the most interesting phenomena exhibited by baby skyrmions - breaking of rotational symmetry. The topics we will deal with here include the appearance of rotational symmetry breaking in the static solutions of baby Skyrme models, both in flat as well as in curved spaces, the zero-temperature crystalline structure of baby skyrmions, and finally, the appearance of spontaneous breaking of rotational symmetry in rotating baby skyrmions.

[Acute pancreatitis and afferent loop syndrome. Case report].

PubMed

Barajas-Fregoso, Elpidio Manuel; Romero-Hernández, Teodoro; Macías-Amezcua, Michel Dassaejv

2013-01-01

The afferent syndrome loop is a mechanic obstruction of the afferent limb before a Billroth II or Roux-Y reconstruction, secondary in most of case to distal or subtotal gastrectomy. Clinical case: Male 76 years old, with antecedent of cholecystectomy, gastric adenocarcinoma six years ago, with subtotal gastrectomy and Roux-Y reconstruction. Beginning a several abdominal pain, nausea and vomiting, abdominal distension, without peritoneal irritation sings. Amylase 1246 U/L, lipase 3381 U/L. Computed Tomography with thickness wall and dilatation of afferent loop, pancreas with diffuse enlargement diagnostic of acute pancreatitis secondary an afferent loop syndrome. The afferent loop syndrome is presented in 0.3%-1% in all cases with Billroth II reconstruction, with a mortality of up to 57%, the obstruction lead accumulation of bile, pancreatic and intestinal secretions, increasing the pressure and resulting in afferent limb, bile conduct and Wirsung conduct dilatation, triggering an inflammatory response that culminates in pancreatic inflammation. The severity of the presentation is related to the degree and duration of the blockage.

[A unique case of secondary takotsubo syndrome].

PubMed

Arcari, Luca; Limite, Luca Rosario; Autore, Camillo; Volpe, Massimo; Musumeci, Maria Beatrice

2018-04-01

Takotsubo syndrome (TTS) is an acute cardiac syndrome characterized by transient systolic left ventricular dysfunction frequently preceded by stressful events. It typically affects postmenopausal women without angiographic evidence of obstructive coronary artery disease. We report here an uncommon occurrence of secondary TTS in a male with coronary artery disease after exogenous catecholamine administration and pacemaker implantation. This unexpected case suggests that, in such clinical scenario, a TTS diagnosis might be considered even in unsuspected individuals.

Healthy Smile for Your Baby

MedlinePlus

... Baby Healthy. Washington, DC: National Maternal and Child Oral Health Resource Center. A Healthy Smile for Your Baby: ... Healthy © 2009 by the National Maternal and Child Oral Health Resource Center, Georgetown University. Fourth printing. This publication ...

Churg-Strauss syndrome in childhood: a case report.

PubMed

Albahri, Ziad; Minxová, Lenka; Lukeš, Antonín; Mawiri, Abdul Al; Štefáčková, Šárka

2014-10-01

Churg-Strauss syndrome is a rare form of small-vessel vasculitis. In the current report, we describe the case of a 17-year-old Czech girl predominantly characterized by peripheral neuropathy, the presence of cardiac and pulmonary involvement, hypereosinophilia, asthma, and sinusitis that led to the diagnosis of Churg-Strauss syndrome. © The Author(s) 2013.

Cerebro-costo-mandibular syndrome: Report of two cases.

PubMed

Abdalla, Wael; Panigrahy, Ashok; Bartoletti, Stefano C

2011-01-01

Cerebro-costo-mandibular syndrome (CCMS) is a rare syndrome that includes a constellation of mandibular hypoplasia and posterior rib defects as its basic features. Additional features can include hearing loss, tracheal cartilage abnormalities, scoliosis, elbow hypoplasia, and spina bifida. Here we report two cases of CCMS and discuss the reported long-term outcome of the disease.

You Are Your Baby's First Teachers.

ERIC Educational Resources Information Center

Segal, Marilyn M.

This easy-to-read manual for parents describes what a baby learns in the first year of life and suggests specific things parents or caregivers can do to encourage a baby to use his body, senses, and mind to communicate. Each chapter is concerned with 1 month of the infant's life and includes sections on (1) Baby's Viewpoint (discussion of the…

[Extensive scabies in a baby (author's transl)].

PubMed

Maleville, J; Derrien, A; Boineau, D; Mollard, S; Marc-Antoine, H; Guillet, G

The authors are reporting a new case of widespread scabies in a baby. They take this opportunity to emphasize on the atypical erythematous and excoriated papular rash which sometimes may be vesicular and hyper-keratotic. This widespread eruption may mimic generalised dermatitis, pustular psoriasis and even histiocytosis X. They also underline importancy of longlasting ointment with fluorinated steroid being responsible for this widespread eruption.

[Leigh syndrome: case report].

PubMed

Roma, Adriano de Carvalho; Pereira, Paula Resende Aquino de Assis; Dantas, Adalmir Morterá

2008-01-01

The authors describe for the first time in the Country a case of a 10-year-old female child, assisted at the Ophthalmology Clinic of the Hospital Universitário Clementino Fraga Filho UFRJ, with Leigh's syndrome that is part of a metabolic disease group known as mitochondrial encephalomyopathies. It is an hereditary disease transmitted by a different mode of inheritance: mitochondrial, X-linked recessive and autosomal recessive. The beginning of clinical manifestations is varied and occurs usually in the first two years of life, with progressive and insidious evolution and exacerbation periods. Diagnosis is difficult because pleomorphic presentation, based on clinical findings and complementary study related to mitochondrial production of ATP and cytochrome c oxidase deficiencies. Considering that there is no specific treatment, this is based on a palliative procedure. So, the identification of this syndrome is very important to keep it under control, since its evolution is progressive.

Positioning your baby for breastfeeding

MedlinePlus

... Adjust your baby's position if you need to. FOOTBALL HOLD Use the football hold if you had a C-section. This ... large breasts or flat nipples also like the football hold. Hold your baby like a football. Tuck ...

Ambras Syndrome: First Reported Case in Bangladesh and its Oral Rehabilitation.

PubMed

Khan, M H; Ashrafuzzaman, S M; Taib, A N; Alam, M T; Khan, S H; Goldstein, S K; Rahman, R

2015-10-01

People with rare hypertrichosis syndromes became crowd-drawing money-making phenomena in many 19th century sideshow acts. These individuals have been referred to as dog-men, hair-men, and werewolves. In 1993, Baumister et al. described congenital hypertrichosis lanuginose or Ambras syndrome: a distinct form of congenital hypertrichosis characterized by excessive hair growth over the body and face associated with facial and occasional dental anomalies. Much is not known about this syndrome since fewer than 50 cases have been documented worldwide. In this case report, a nine year old girl presented with excessive hair growth throughout her body that was denser along her midline. Furthermore, her face displayed the typical dysmorphic features characteristic of Ambras syndrome: a round tip nose, thickened nasal cartilage, antiverted nares, prominent philtrum with deep groove, and a trapezoid mouth. Oral examination revealed normal oral mucosa with completely missing and unerupted decidious and permanent teeth. Panoramic radiographs confirmed unerupted deciduous teeth. Previous case reports have mentioned the presence of occasional dental anomalies such as retarded first and second dentition and absence of some teeth. However, this is the first reported case of Ambras syndrome presenting with complete anodontia. Prior cytogenetic studies performed on persons with Ambras syndrome have implicated a balanced pericentric inversion of chromosome 8. However, it is likely that dental anomalies are likely a result of a different genetic rearrangement. Further studies are needed to explore the cause of this rare phenotype of Ambras syndrome with complete unerupted dentition.

Rett'S syndrome : a case report.

PubMed

Gupta, V

2001-01-01

Rett's syndrome is a rare condition affecting only the girl child. It presents as a pervasive developmental disorder with a remarkable behavioural phenotype. The cause for this remains unknown but genetic factors and brain dysfunction have been implicated. This case report emphasises the importance of being aware of rare yet significant disorders of interest to neuro-developmental psychiatrists.

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PubMed

Hannibal, Mark C; Buckingham, Kati J; Ng, Sarah B; Ming, Jeffrey E; Beck, Anita E; McMillin, Margaret J; Gildersleeve, Heidi I; Bigham, Abigail W; Tabor, Holly K; Mefford, Heather C; Cook, Joseph; Yoshiura, Koh-ichiro; Matsumoto, Tadashi; Matsumoto, Naomichi; Miyake, Noriko; Tonoki, Hidefumi; Naritomi, Kenji; Kaname, Tadashi; Nagai, Toshiro; Ohashi, Hirofumi; Kurosawa, Kenji; Hou, Jia-Woei; Ohta, Tohru; Liang, Deshung; Sudo, Akira; Morris, Colleen A; Banka, Siddharth; Black, Graeme C; Clayton-Smith, Jill; Nickerson, Deborah A; Zackai, Elaine H; Shaikh, Tamim H; Donnai, Dian; Niikawa, Norio; Shendure, Jay; Bamshad, Michael J

2011-07-01

Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability. Simplex cases make up the vast majority of the reported cases with Kabuki syndrome, but parent-to-child transmission in more than a half-dozen instances indicates that it is an autosomal dominant disorder. We recently reported that Kabuki syndrome is caused by mutations in MLL2, a gene that encodes a Trithorax-group histone methyltransferase, a protein important in the epigenetic control of active chromatin states. Here, we report on the screening of 110 families with Kabuki syndrome. MLL2 mutations were found in 81/110 (74%) of families. In simplex cases for which DNA was available from both parents, 25 mutations were confirmed to be de novo, while a transmitted MLL2 mutation was found in two of three familial cases. The majority of variants found to cause Kabuki syndrome were novel nonsense or frameshift mutations that are predicted to result in haploinsufficiency. The clinical characteristics of MLL2 mutation-positive cases did not differ significantly from MLL2 mutation-negative cases with the exception that renal anomalies were more common in MLL2 mutation-positive cases. These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome. Copyright © 2011 Wiley-Liss, Inc.

Your Baby's Growth: 5 Months

MedlinePlus

... Search English Español Your Baby's Growth: 5 Months KidsHealth / For Parents / Your Baby's Growth: 5 Months What's ... the Nemours Web site. Note: All information on KidsHealth® is for educational purposes only. For specific medical ...

Your Baby's Growth: 3 Months

MedlinePlus

... Search English Español Your Baby's Growth: 3 Months KidsHealth / For Parents / Your Baby's Growth: 3 Months What's ... the Nemours Web site. Note: All information on KidsHealth® is for educational purposes only. For specific medical ...

NEUROBILOGY OF ASPERGER'S SYNDROME : A CASE STUDY AND OVERVIEW

PubMed Central

Duggal, Harpreet S.; Dutta, Siddhartha; Sinha, Vinod K.; Basu, Soumya; Pandey, Smita; Nizamie, Haque S.; Nizamie, Alka

2001-01-01

Asperger's syndrome is an autistic spectrum disorder, which has engendered lesser attention in comparison to autism. Recent literature has focused on the involvement of cortical areas of the brain in this syndrome. We report a case of Asperger′s syndrome in which an extensive work-up, including neuropsychological, neurophysiological and neuroimaging procedures, were undertaken. The findings of the various investigative procedures are discussed and literature supporting the neurobiological basis of Asperger's syndrome is highlighted. Finally, we briefly touch upon the ‘Theory of Mind’ construct in autistic spectrum disorders. PMID:21407867

The association between prune belly syndrome and dental anomalies: a case report

PubMed Central

2012-01-01

Background Prune belly syndrome is a rare condition produced by an early mesodermal defect that causes abdominal abnormalities. However, the literature indicates that disturbances related to ectodermal development may also be present. This is the first case report in the literature to suggest that dental abnormalities are part of the broad spectrum of clinical features of prune belly syndrome. Because the syndrome causes many serious medical problems, early diagnosis of abnormalities involving the primary and permanent dentitions are encouraged. Case presentation The authors report the clinical case of a 4-year-old Caucasian boy with prune belly syndrome. In addition to the triad of abdominal muscle deficiency, abnormalities of the gastrointestinal and urinary tracts, and cryptorchidism, a geminated mandibular right central incisor, agenesis of a mandibular permanent left incisor, and congenitally missing primary teeth (namely, the mandibular right and left lateral incisors) were noted. Conclusion This original case report about prune belly syndrome highlights the possibility that dental abnormalities are a part of the broad spectrum of clinical features of the syndrome. Therefore, an accurate intra-oral clinical examination and radiographic evaluation are required for patients with this syndrome in order to provide an early diagnosis of abnormalities involving the primary and permanent dentitions. PMID:23249412

Dorsal dimelia in patau syndrome: a case report.

PubMed

Fattah, A; Pickford, M A

2007-10-01

We present a case of a child with Patau syndrome that exhibits features consistent with congenital palmar nail syndrome. The literature is reviewed and evidence presented to demonstrate that this is a defect in the dorso-ventral patterning of the limb and thus a form of dorsal dimelia. In order to differentiate this from other instances of ectopic nail tissue we suggest congenital palmar nail syndrome should be more specifically defined as duplicated nails, absent flexion creases, non-glabrous skin on the palmar surface, reduced movement at the interphalangeal joints and hypoplastic terminal phalanges.

A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.

PubMed

Maltese, Paolo E; Iarossi, Giancarlo; Ziccardi, Lucia; Colombo, Leonardo; Buzzonetti, Luca; Crinò, Antonino; Tezzele, Silvia; Bertelli, Matteo

2018-02-01

Obesity phenotype can be manifested as an isolated trait or accompanied by multisystem disorders as part of a syndromic picture. In both situations, same molecular pathways may be involved to different degrees. This evidence is stronger in syndromic obesity, in which phenotypes of different syndromes may overlap. In these cases, genetic testing can unequivocally provide a final diagnosis. Here we describe a patient who met the diagnostic criteria for Alström syndrome only during adolescence. Genetic testing was requested at 25 years of age for a final confirmation of the diagnosis. The genetic diagnosis of Alström syndrome was obtained through a Next Generation Sequencing genetic test approach using a custom-designed gene panel of 47 genes associated with syndromic and non-syndromic obesity. Genetic analysis revealed a novel homozygous frameshift variant p.(Arg1550Lysfs*10) on exon 8 of the ALMS1 gene. This case shows the need for a revision of the diagnostic criteria guidelines, as a consequence of the recent advent of massive parallel sequencing technology. Indications for genetic testing reported in these currently accepted diagnostic criteria for Alström syndrome, were drafted when sequencing was expensive and time consuming. Nowadays, Next Generation Sequencing testing could be considered as first line diagnostic tool not only for Alström syndrome but, more generally, for all those atypical or not clearly distinguishable cases of syndromic obesity, thus avoiding delayed diagnosis and treatments. Early diagnosis permits a better follow-up and pre-symptomatic interventions. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Down syndrome detection from facial photographs using machine learning techniques

NASA Astrophysics Data System (ADS)

Zhao, Qian; Rosenbaum, Kenneth; Sze, Raymond; Zand, Dina; Summar, Marshall; Linguraru, Marius George

2013-02-01

Down syndrome is the most commonly occurring chromosomal condition; one in every 691 babies in United States is born with it. Patients with Down syndrome have an increased risk for heart defects, respiratory and hearing problems and the early detection of the syndrome is fundamental for managing the disease. Clinically, facial appearance is an important indicator in diagnosing Down syndrome and it paves the way for computer-aided diagnosis based on facial image analysis. In this study, we propose a novel method to detect Down syndrome using photography for computer-assisted image-based facial dysmorphology. Geometric features based on facial anatomical landmarks, local texture features based on the Contourlet transform and local binary pattern are investigated to represent facial characteristics. Then a support vector machine classifier is used to discriminate normal and abnormal cases; accuracy, precision and recall are used to evaluate the method. The comparison among the geometric, local texture and combined features was performed using the leave-one-out validation. Our method achieved 97.92% accuracy with high precision and recall for the combined features; the detection results were higher than using only geometric or texture features. The promising results indicate that our method has the potential for automated assessment for Down syndrome from simple, noninvasive imaging data.

A rare case of Gitelman's syndrome with hypophosphatemia.

PubMed

Akhtar, Naureen; Hafeez, Farkhanda

2009-04-01

Gitelman's syndrome is a hereditary disorder occurring due to loss of functional mutations of the gene encoding the distal convoluted tubule sodium chloride cotransporter (NCCT) and is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. This case reports an adolescent girl presenting with episodes of carpopedal spasms and difficulty in walking with laboratory tests suggestive of Gitelman's syndrome along with hypophosphatemia.

Discordant twins with the smaller baby appropriate for gestational age--unusual manifestation of superfoetation: a case report.

PubMed

Baijal, Noopur; Sahni, Mohit; Verma, Neeraj; Kumar, Amit; Parkhe, Nittin; Puliyel, Jacob M

2007-01-19

Documentation of superfoetation is extremely rare in humans., The younger foetus has invariably been small for gestational age (estimated from the date of the last menstrual bleed) in all the cases reported in the literature. We report a case where the younger twin was of appropriate size for gestation. The first of twins was of 32 weeks gestation and the baby was of appropriate size and development for the gestational age. The second twin was of 36 weeks gestation. Gestational age was estimated with the New Ballard score, x-ray of the lower limbs, dental age on x-ray, and ophthalmic examination. Bleeding on implantation of the first foetus probably helped demarcate the two pregnancies. Dental age and the New Ballard score can be used to diagnose superfoetation in discordant twins, when detailed first trimester ultra-sound data is not available.

Intestinal adaptation in short bowel syndrome: A case report.

PubMed

Palla, Viktoria-Varvara; Karaolanis, Georgios; Pentazos, Panagiotis; Ladopoulos, Alexios; Papageorgiou, Evaggelos

2015-06-01

Short bowel syndrome is a clinical entity that includes loss of energy, fluid, electrolytes or micronutrient balance because of inadequate functional intestinal length. This case report demonstrates the case of a woman who compensated for short bowel syndrome through intestinal adaptation, which is a complex process worthy of further investigation for the avoidance of dependence on total parenteral nutrition and of intestinal transplantation in such patients. Copyright © 2015 Arab Journal of Gastroenterology. Published by Elsevier B.V. All rights reserved.

MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.

PubMed

Rudnicki, Michael; Mayr, Johannes A; Zschocke, Johannes; Antretter, Herwig; Regele, Heinz; Feichtinger, René G; Windpessl, Martin; Mayer, Gert; Pölzl, Gerhard

2016-12-01

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) represents one of the most frequent mitochondrial disorders. The majority of MELAS cases are caused by m.3243A>G mutation in the mitochondrial MT-TL1 gene, which encodes the mitochondrial tRNA Leu(UUR) . Kidney involvement usually manifests as Fanconi syndrome or focal segmental glomerulosclerosis. We describe a patient with MELAS mutation, cardiomyopathy, and chronic kidney disease without Fanconi syndrome, proteinuria, or hematuria. While the patient was waitlisted for heart transplantation, her kidney function deteriorated from an estimated glomerular filtration rate of 33 to 20mL/min/1.73m 2 within several months. Kidney biopsy was performed to distinguish decreased kidney perfusion from intrinsic kidney pathology. Histologic examination of the biopsy specimen showed only a moderate degree of tubular atrophy and interstitial fibrosis, but quantitative analysis of the m.3243A>G mitochondrial DNA mutation revealed high heteroplasmy levels of 89% in the kidney. Functional assessment showed reduced activity of mitochondrial enzymes in kidney tissue, which was confirmed by immunohistology. In conclusion, we describe an unusual case of MELAS syndrome with chronic kidney disease without apparent proteinuria or tubular disorders associated with Fanconi syndrome, but widespread interstitial fibrosis and a high degree of heteroplasmy of the MELAS specific mutation and low mitochondrial activity in the kidney. Copyright © 2016 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

Discordant twins with the smaller baby appropriate for gestational age – unusual manifestation of superfoetation: A case report

PubMed Central

Baijal, Noopur; Sahni, Mohit; Verma, Neeraj; Kumar, Amit; Parkhe, Nittin; Puliyel, Jacob M

2007-01-01

Background Documentation of superfoetation is extremely rare in humans., The younger foetus has invariably been small for gestational age (estimated from the date of the last menstrual bleed) in all the cases reported in the literature. We report a case where the younger twin was of appropriate size for gestation. Case Presentation The first of twins was of 32 weeks gestation and the baby was of appropriate size and development for the gestational age. The second twin was of 36 weeks gestation. Gestational age was estimated with the New Ballard score, x-ray of the lower limbs, dental age on x-ray, and ophthalmic examination. Conclusion Bleeding on implantation of the first foetus probably helped demarcate the two pregnancies. Dental age and the New Ballard score can be used to diagnose superfoetation in discordant twins, when detailed first trimester ultra-sound data is not available. PMID:17239246

Abusive Head Trauma: A Perpetrator Confesses

ERIC Educational Resources Information Center

Bell, Erica; Shouldice, Michelle; Levin, Alex V.

2011-01-01

Objectives: To present a detailed confession from a perpetrator of Shaken Baby syndrome. Methods: Case study. Results: We present a confession of Shaken Baby syndrome describing how the perpetrator severely injured a 3 year old with repeated bursts of acceleration-deceleration (shaking). The child sustained retinal and intracranial hemorrhage.…

[Radiculopathy in patients with Heerfordt's syndrome: two case presentations and review of the literature].

PubMed

Fukuhara, Kousuke; Fukuhara, Aika; Tsugawa, Jun; Oma, Shinji; Tsuboi, Yoshio

2013-08-01

As a subtype of the clinical presentations associated with sarcoidosis, the combination of uveitis, parotid gland swelling, and facial nerve palsy is known as Heerfordt's syndrome. This syndrome is an extremely rare disorder that has been estimated to affect only 4.1-5.6% of patients with sarcoidosis. We present 2 cases of Heerfordt's syndrome associated with radiculopathy in the trunk. The 2 patients experienced unilateral or bilateral radiculopathy in the trunk and in the trigeminal nerve area associated with Heerfordt's syndrome. Radiculopathy is also a rare manifestation in patients with neurosarcoidosis. A literature review revealed that only 51 cases of radiculopathy associated with sarcoidosis have been documented. A diagnosis of Heerfordt's syndrome was observed in 7 out of these 51 cases. Together with our 2 cases, 9 out of 53 patients with radiculopathy associated with sarcoidosis have been diagnosed as having Heerfordt's syndrome (estimated frequency, 16.9%). In conclusion, radiculopathy is a common neurological manifestation in patients with Heerfordt's syndrome. On the basis of our experience, we suggest that physicians consider the possibility of Heerfordt's syndrome in cases of radiculopathy with unknown cause.

[Rectal cancer and Trousseau syndrome. Case report].

PubMed

Sierra-Montenegro, Ernesto; Sierra-Luzuriaga, Gastón; Calle-Loffredo, Daniel; Rodríguez Quinde, Miguel

2013-01-01

The Trousseau syndrome, first described in 1865, is the relationship of venous thromboembolisms and cancer. We present a case with rectal cancer and Trousseau syndrome. Female 40 years old, went to the Coloproctology Service for painless bleeding. A computed tomography report showed a tumor of 5 by 6 cm up 5 cm from the anal margin. Ultra-low anterior resection with colonic reservoir and loop ileostomy surgery was performed. The pathology report showed a semidiferenciate adenocarcinoma of the rectum and we established the stage as T3N0M0. Within 72 hours of her operation, she experienced sudden hypotension and painful abdominal distention. A second surgery was done finding necrosis of the colon from the splenic angle until the colonic reservoir with thrombi in the left colic artery, ischemic signs of bilateral fallopian tubes, ovaries, uterus, pelvic floor and the small intestine, 40 cm before ileostomy and ileon. Left hemicolectomy and colostomy was done. She was taken to intensive care where continuous administration of heparin was given; she died within 5 days because of multiorgan failure. The mechanism for this syndrome was unknown but there are several hypotheses, suggesting that hematological cancer patients are at an increased risk of deep vein thrombosis. Pancreatic cancer is the most common presentation with this syndrome (in 50% of cases). We suggested continuing with the standards of prevention of thromboembolism.

Infants & Toddlers: "Baby Moves"

ERIC Educational Resources Information Center

Honig, Alice Sterling

2007-01-01

By three to four months of age, most babies placed on their tummies on a safe, warm surface push down with their arms and raise their chests, so that they can turn their heads to look about at the world around them. By five months, babies stretch both feet and hands upward in order to swipe at interesting mobiles placed overhead. At seven to nine…

A Case of Miller Fisher Syndrome, Thromboembolic Disease, and Angioedema: Association or Coincidence?

PubMed

Salehi, Nooshin; Choi, Eric D; Garrison, Roger C

2017-01-16

BACKGROUND Miller Fisher Syndrome is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia, and is considered to be a variant of Guillain-Barre Syndrome. Miller Fisher Syndrome is observed in approximately 1-5% of all Guillain-Barre cases in Western countries. Patients with Miller Fisher Syndrome usually have good recovery without residual deficits. Venous thromboembolism is a common complication of Guillain-Barre Syndrome and has also been reported in Miller Fisher Syndrome, but it has generally been reported in the presence of at least one prothrombotic risk factor such as immobility. A direct correlation between venous thromboembolism and Miller Fisher Syndrome or Guillain-Barre Syndrome has not been previously described. CASE REPORT We report the case of a 32-year-old Hispanic male who presented with acute, severe thromboembolic disease and concurrently demonstrated characteristic clinical features of Miller Fisher Syndrome including ophthalmoplegia, ataxia, and areflexia. Past medical and family history were negative for thromboembolic disease, and subsequent hypercoagulability workup was unremarkable. During the course of hospitalization, the patient also developed angioedema. CONCLUSIONS We describe a possible association between Miller Fisher Syndrome, thromboembolic disease, and angioedema.

Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report.

PubMed

Adachi, Masanori; Tajima, Toshihiro; Muroya, Koji; Asakura, Yumi

2013-12-30

Classic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene. Although growth hormone deficiency has been suggested as a cause for persistent growth failure in patients with classic Bartter syndrome, in our opinion the diagnoses of growth hormone deficiency has been unconvincing in some reports. Moreover, Gitelman syndrome seems to have been confused with Bartter syndrome in some cases in the literature. In the present work, we describe a new case with CLCNKB gene mutations and review the reported cases of classic Bartter syndrome associated with growth hormone deficiency. Our patient was a Japanese boy diagnosed as having classic Bartter syndrome at eight months of age. The diagnosis of Bartter syndrome was confirmed by CLCNKB gene analysis, which revealed compound heterozygous mutations with deletion of exons 1 to 3 (derived from his mother) and ΔL130 (derived from his father). His medical therapy consisted of potassium (K), sodium chloride, spironolactone, and anti-inflammatory agents; this regime was started at eight months of age. Our patient was very short (131.1cm, -4.9 standard deviation) at 14.3 years and showed profoundly impaired growth hormone responses to pharmacological stimulants: 0.15μg/L to insulin-induced hypoglycemia and 0.39μg/L to arginine. His growth response to growth hormone therapy was excellent. The present case strengthens the association between classic Bartter syndrome and growth hormone deficiency. We propose that growth hormone status should be considered while treating children with classic Bartter syndrome.

Cyclical vomiting syndrome secondary to a Chiari I malformation-a case report.

PubMed

White, William L; Bagga, Veejay; Campbell, David I; Hart, Anthony R; Ushewokunze, Shungu

2017-12-01

Cyclical vomiting syndrome is a disorder characterised by recurrent episodes of profuse vomiting. There are no cases in the literature on the management of children with presenting with cyclical vomiting syndrome and a Chiari malformation type I. We report the case of a 12-year-old child diagnosed with cyclical vomiting syndrome and a Chiari malformation type I. The patient received symptomatic relief following a craniocervical decompression.

Baby to Parent, Parent to Baby: A Guide to Developing Parent-Child Interaction in the First Twelve Months.

ERIC Educational Resources Information Center

Gordon, Ira J.

This non-technical book for parents discusses aspects of child care and family relations from the time of the baby's conception through the first year of its life, emphasizing ways of developing effective parent-child interaction. Topics covered include: preparing emotionally and physically for a baby; ways to "get to know" the baby during the…

RETT'S SYNDROME : A CASE REPORT

PubMed Central

Gupta, Vinay

2001-01-01

Rett's syndrome is a rare condition affecting only the girl child. It presents as a pervasive developmental disorder with a remarkable behavioural phenotype. The cause for this remains unknown but genetic factors and brain dysfunction have been implicated. This case report emphasises the importance of being aware of rare yet significant disorders of interest to neuro-developmental psychiatrists. PMID:21407847

Analysis of Mother-Infant Interaction in Infants with Down Syndrome and Typically Developing Infants

ERIC Educational Resources Information Center

Slonims, Vicky; McConachie, Helen

2006-01-01

Delays in development of early social behaviors in babies with Down syndrome are likely to affect patterns of interaction with their caregivers. We videotaped 23 babies in face-to-face interaction with their mothers at 8 and 20 weeks of age and compared them to 23 typically developing infants and their mothers. Social behaviors, mothers'…

Designer babies--why not?

PubMed

Evans, M

2001-02-01

Though many objections can be levelled against the idea of the practice of genetic intervention to produce 'designer babies', upon examination they are shown to hinge on features which concern parental intentions towards their children, rather than features specific to the means involved. These intentions may be pursued by a variety of social practices which may, though need not, involve a measure of 'traditional' genetic selection (i.e. in terms of the identity and characteristics of the reproducing partners). This paper reviews a number of these objections and, by parity of reasoning, rejects their claim to count specifically or decisively against genetic intervention in pursuit of 'designer babies'. Rejecting these objections does not lead to the endorsement of 'designing babies, but it shows that any unease must be grounded elsewhere and defended by other arguments.

Production of apple-based baby food: changes in pesticide residues.

PubMed

Kovacova, Jana; Kocourek, Vladimir; Kohoutkova, Jana; Lansky, Miroslav; Hajslova, Jana

2014-01-01

Apples represent the main component of most fruit-based baby food products. Since not only fruit from organic farming, but also conventionally grown fruit is used for baby food production, the occurrence of pesticide residues in the final product is of high concern. To learn more about the fate of these hazardous compounds during processing of contaminated raw material, apples containing altogether 21 pesticide residues were used for preparation of a baby food purée both in the household and at industrial scale (in the baby food production facility). Within both studies, pesticide residues were determined in raw apples as well as in final products. Intermediate product and by-product were also analysed during the industrial process. Determination of residues was performed by a sensitive multi-detection analytical method based on liquid or gas chromatography coupled with mass spectrometry. The household procedure involved mainly the cooking of unpeeled apples, and the decrease of residues was not extensive enough for most of the studied pesticides; only residues of captan, dithianon and thiram dropped significantly (processing factors less than 0.04). On the other hand, changes in pesticide levels were substantial for all tested pesticides during apple processing in the industrial baby food production facility. The most important operation affecting the reduction of residues was removal of the by-products after pulping (rest of the peel, stem, pips etc.), while subsequent sterilisation has an insignificant effect. Also in this case, captan, dithianon and thiram were identified as pesticides with the most evident decrease of residues.

Churg Strauss syndrome associated with montelukast--case report.

PubMed

Man, Milena Adina; Alexandrescu, Dana; Pop, Monica; Trofor, Antigona

2012-01-01

Churg-Strauss Syndrome (allergic granulomatous angiitis) is a rare systemic and pulmonary vasculitis. We report the case of a 62 years old female, non-smoker, with a 20 years history of moderate persistent asthma treated with Salmeterol/Fluticasone 50/500 microg bid for 5 years and supplemental Montelukast in the past 5 months. The patient was admitted in our hospital with fever, malaise, sensory deficits in the lower extremities, diffuse musculoskeletal and thoracic pain. Blood eosinophil was 38% of her total WBC, thoracic computed tomography evidenced ill-defined groundglass attenuation predominantly involving the lateral segment of the middle lobe. Pulmonary infiltrates with eosinophilia can be used to define eosinophilic lung diseases. We made the differential diagnosis of eosinophilic lung disease: acute or chronic eosinophilic pneumonias, allergic bronchopulmonary aspergillosis, Loffler syndrome, Churg-Strauss syndrome, bronchocentric granulomatousis, idiopathic hypereosinophilic syndromes. Bronchoalveolar lavage showed 14.6% eosinophils. Few days after hospital admission patient experienced nausea, vomiting and diarrhea. She underwent a digestive endoscopy, which showed eosinophilic enteritis according to colon biopsy. Nasal mucosa biopsy found granulomas. Anti-neutrophil cytoplasmatic antibody (ANCA) was positive at 1:20. She displayed more than four American College of Rheumatology (ACR) criteria for Churg-Strauss Syndrome (developed while she was receiving montelukast therapy). Discontinuation of Montelukast and association of oral prednisone (1 mg/kgc) induced rapid improvement of symptoms and rapid decrease of peripheric eosinophils (72 hours). This case report illustrates the importance of early diagnosis of Churg-Strauss syndrome and the possible pathogenic link between leukotriene receptor antagonist use and CSS development.

Associated congenital anomalies among cases with Down syndrome.

PubMed

Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

2015-12-01

Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to

Guillain-Barré syndrome complicating dengue fever: Two case reports.

PubMed

Boo, Yang Liang; Aris, Mohd Azman M; Chin, Pek Woon; Sulaiman, Wan Aliaa Wan; Basri, Hamidon; Hoo, Fan Kee

2016-01-01

Guillain-Barré syndrome is a rare neurological manifestation associated with dengue infection. More common antecedent infections include Campylobacter jejuni and Cytomegalovirus infection. Here, we report two cases of Guillain-Barré syndrome complicating dengue infection.

‘Baby Blues’ highbush blueberry

USDA-ARS?s Scientific Manuscript database

‘Baby Blues’ is a new highbush blueberry from the U.S. Department of Agriculture-Agricultural Research Service (USDA-ARS) breeding program in Corvallis, OR, released in cooperation with Oregon State University’s Agricultural Experiment Station. ‘Baby Blues’ is a vigorous, high-yielding, very small-f...

Think Again: First Do No Harm: A Case of Munchausen Syndrome by Proxy.

PubMed

Yalndağ-Öztürk, Nilüfer; Erkek, Nilgün; Şirinoğlu, Melis Bayram

2015-10-01

Apparent life-threatening events caused by Munchausen syndrome by proxy (MSP) are rare but difficult to resolve medically. Failure to properly diagnose MSP can lead to further abuse by the caregiver and increase the risk of complications due to long hospital stays and invasive tests. In this paper, we describe our experiences with a baby who ended up being diagnosed with MSP, including our initial failure to find a pathology, delay of MSP diagnosis, our growing suspicion of MSP despite technical setbacks, our actions after we confirmed MSP as the cause of his hospitalizations. We also describe the difficulties of diagnosing MSP compared to more traditional problems and explain a series of precautions and guidelines to help detect it in a timely manner.

Modified metabolic syndrome and second cancers in women: A case control study.

PubMed

Ortiz-Mendoza, Carlos-Manuel; Pérez-Chávez, Ernesto; Fuente-Vera, Tania-Angélica De-la

2016-01-01

According to some studies, the metabolic syndrome causes diverse primary cancers; however, there is no evidence about metabolic syndrome impact on second cancers development in women. To find out the implication of the modified metabolic syndrome in women with second cancers. This was a case-control study, at a general hospital in Mexico City, in women with second cancers (cases) and age-matched women with only one neoplasm (controls). The analysis comprised: Tumor (s), anthropometric features, and body mass index (BMI); moreover, presence of diabetes mellitus, hypertension, and fasting serum levels of total cholesterol, triglycerides and glucose. The sample was of nine cases and 27 controls. In cases, the metabolic syndrome (diabetes mellitus or glucose > 99 mg/dL + hypertension or blood pressure ≥ 135/85 mm Hg + triglycerides > 149 mg/dL or BMI ≥ 30 kg/m 2 ) was more frequent (odds ratio 20.8, 95% confidence interval: 1.9-227.1). Our results suggest that in women, the modified metabolic syndrome may be a risk factor for second cancers.

Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child.

PubMed

Tandon, Sandeep; Chauhan, Yashwant; Sharma, Meenakshi; Jain, Manish

2016-01-01

Gorlin-Goltz Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant trait caused due to mutations in the patched tumor suppressor gene (PTCH) gene found on the long arm of chromosome 9. The syndrome is characterized by the presence of odontogenic keratocysts (OKCs), basal cell carcinomas, and skeletal malformations. Early diagnosis of the syndrome can be done by pedodontist as OKC is one of the early manifestations of the syndrome. Early diagnosis and treatment is important for long-term prognosis of the syndrome by reducing the severity of cutaneous carcinomas and deformities due to jaw cyst. The present case describes an 11-year-old patient with some typical features of NBCCS, which were diagnosed through its oral and maxillofacial manifestations. This case emphasizes the importance of pedodontist in early recognition of the syndrome. Tandon S, Chauhan Y, Sharma M, Jain M. Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child. Int J Clin Pediatr Dent 2016;9(3):264-268.

Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child

PubMed Central

Tandon, Sandeep; Chauhan, Yashwant; Jain, Manish

2016-01-01

Gorlin-Goltz Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant trait caused due to mutations in the patched tumor suppressor gene (PTCH) gene found on the long arm of chromosome 9. The syndrome is characterized by the presence of odontogenic keratocysts (OKCs), basal cell carcinomas, and skeletal malformations. Early diagnosis of the syndrome can be done by pedodontist as OKC is one of the early manifestations of the syndrome. Early diagnosis and treatment is important for long-term prognosis of the syndrome by reducing the severity of cutaneous carcinomas and deformities due to jaw cyst. The present case describes an 11-year-old patient with some typical features of NBCCS, which were diagnosed through its oral and maxillofacial manifestations. This case emphasizes the importance of pedodontist in early recognition of the syndrome. How to cite this article Tandon S, Chauhan Y, Sharma M, Jain M. Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child. Int J Clin Pediatr Dent 2016;9(3):264-268. PMID:27843260

[Anticonvulsant Hypersensitivity Syndrome: A Case Report].

PubMed

Valderrama Escudero, Felipe; Montoya González, Laura Elisa

2014-01-01

DRESS syndrome (skin reaction with eosinophilia and systemic symptoms) is an idiosyncratic drug reaction characterized by rash, fever, lymphadenopathy, and internal organ dysfunction. This case report is on a patient with bipolar affective disorder who presented with a systemic inflammatory response associated with the use of valproic acid, and an important activation of symptoms when used with other drugs with a different pharmacological action mechanism. The diagnosis of DRESS syndrome is primarily by exclusion, and its detection may be difficult, which could potentially become fatal for the patient. Copyright © 2014 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Abandoned babies and absent policies.

PubMed

Mueller, Joanne; Sherr, Lorraine

2009-12-01

Although infant abandonment is a historical problem, we know remarkably little about the conditions or effects of abandonment to guide evidence driven policies. This paper briefly reviews the existing international evidence base with reference to potential mental health considerations before mapping current UK guidelines and procedures, and available incidence data. Limitations arising from these findings are discussed with reference to international practice, and interpreted in terms of future pathways for UK policy. A systematic approach was utilized to gather available data on policy information and statistics on abandoned babies in the UK. A review of the limited literature indicates that baby abandonment continues to occur, with potentially wide-ranging mental health ramifications for those involved. However, research into such consequences is lacking, and evidence with which to understand risk factors or motives for abandonment is scarce. International approaches to the issue remain controversial with outcomes unclear. Our systematic search identified that no specific UK policy relating to baby abandonment exists, either nationally or institutionally. This is compounded by a lack of accurate of UK abandonment statistics. Data that does exist is not comprehensive and sources are incompatible, resulting in an ambiguous picture of UK baby abandonment. Available literature indicates an absence of clear provision, policy and research on baby abandonment. Based on current understanding of maternal and child mental health issues likely to be involved in abandonment, existing UK strategy could be easily adapted to avoid the 'learning from scratch' approach. National policies on recording and handling of baby abandonments are urgently needed, and future efforts should be concentrated on establishing clear data collection frameworks to inform understanding, guide competent practice and enable successfully targeted interventions.

Recurrent urinary tract infections in an infant with antenatal Bartter syndrome.

PubMed

Tasic, Velibor; Pota, Liljana; Gucev, Zoran

2011-02-01

antenatal variant of Bartter syndrome is characterized by a history of polyhydramnios, premature birth, metabolic alkalosis, hypokalemia, polyuria and renal salt wasting. In this report we present a premature female baby with antenatal Barter syndrome who had three episodes of urinary tract infection (UTI), without evidence for congenital anomaly of the kidneys or urinary tract. antenatal Bartter syndrome was diagnosed according to the standard criteria. Ultrasound scan and voiding cystourethrography were performed to exclude congenital anomaly of the kidneys and urinary tract. the baby presented with early hyperkalemia and acidosis. The typical biochemical features of the Bartter syndrome were observed in the second month. Despite appropriate treatment she had persistent hypercalciuria. The clinical course was complicated with recurrent episodes of febrile UTIs. Urinary tract system imaging did not demonstrate congenital anomalies. She finally died of severe dehydration, acidosis and renal failure. since no congenital anomaly of the kidneys or urinary tract was demonstrated in our patient, we believe that severe, persistent hypercalciuria is the most important risk factor for development of recurrent UTIs.

A Case of a TSH-secreting Pituitary Adenoma Associated with Evans' Syndrome.

PubMed

Yasuda, Atsushi; Seki, Toshiro; Oki, Masayuki; Takagi, Atsushi; Inomoto, Chie; Nakamura, Naoya; Atsumi, Hideki; Baba, Tanefumi; Matsumae, Mitsunori; Sasaki, Noriko; Suzuki, Yasuo; Fukagawa, Masafumi

2015-06-20

We present a case of a TSH-secreting pituitary adenoma (TSHoma) associated with Evans' syndrome. A 30-year-old woman was referred to our hospital due to purpura and ecchymoses on her limb and body and epistaxis. Evans' syndrome was diagnosed based on idiopathic thrombocytopenic purpura and autoimmune hemolytic anemia. She had a history of malocclusion and thyroid gland enlargement 4 years prior to admission. Endocrinological tests and magnetic resonance imaging also revealed that this patient had hyperthyroidism due to the TSHoma and that this adenoma concomitantly secreted GH. Recently, several cases of Evans' syndrome were associated with hyperthyroidism caused by autoimmune thyroid disease, such as Graves' disease, suggesting that these 2 conditions may have a common immunological basis. To the best of our knowledge, there is no case report of Evans' syndrome associated with hyperthyroidism due to TSHoma. Our report suggests that the excess of thyroid hormone itself promotes autoimmunity in Evans' syndrome. Thus, early treatment for hyperthyroidism is necessary in TSHomas because of the possibility that thyroid hormone normalization may prevent the development of Evans' syndrome.

Use of Hemadsorption in a Case of Pediatric Toxic Shock Syndrome

PubMed Central

Berkes, Andrea; Szikszay, Edit; Kerényi, Adrienne; Szabó, Tamás; Ujhelyi, László; Bari, Krisztina; Balla, György

2017-01-01

Background Toxic shock syndrome is a potentially fatal toxin-mediated disease. The role of toxins in this clinical entity made us hypothesize that extracorporeal blood purification with CytoSorb® could play a beneficial role in the clinical management of toxic shock syndrome. This case report describes the successful treatment of toxic shock syndrome using a combination of renal replacement therapy and hemadsorption in a pediatric patient. Case Presentation A 5-year-old girl with Down's syndrome presented with an inflamed area surrounding an insect bite, signs of systemic inflammation, and multiple organ failure. As previous attempts of immune modulation therapy were unsuccessful, renal replacement therapy was supplemented by the cytokine absorber CytoSorb. Treatment using this combination was associated with a rapid and significant stabilization in the hemodynamic situation and a decrease in inflammatory mediators within hours after the initiation of therapy. The application of CytoSorb therapy was simple and safe. Conclusion The use of extracorporeal blood purification with CytoSorb proved potentially beneficial by removing toxins and inflammatory mediators in this case and could therefore play a role in the clinical management of toxic shock syndrome. Whether CytoSorb has the potential to even positively influence mortality in patients with toxic shock syndrome still needs to be confirmed. PMID:28791185

The breastfeeding support and promotion in Baby-Friendly Maternity Hospitals and Not-as-Yet Baby-Friendly Hospitals in Russia.

PubMed

Abolyan, Lyubov V

2006-01-01

The objective was to evaluate implementation of the WHO/UNICEF "Ten Steps to Successful Breastfeeding" as defined by the Baby-Friendly Hospital Initiative in eight maternity hospitals in the Moscow region. Four maternity hospitals had been certified Baby- Friendly Hospitals (BFHs), the experimental group; and four maternity hospitals Not-as-Yet Baby Friendly, the control group (NBFHs). Maternal interviews and infant breastfeeding rates were the primary outcomes of the study. In total, 741 healthy postpartum women from the experimental and control group were interviewed: 383 and 358, respectively. Interviews were conducted over 5 months, from May to July 2004. In addition, an assessment of levels and trends in breastfeeding for the period of 1998 to 2003 was made for the area served by the BFHs and the NBFHs. Analyses of the questionnaires completed by the mothers found a positive effect of BFH practice on a number of parameters, such as an increased rate of in-hospital exclusive breastfeeding, mothers' decisions concerning planned duration of breastfeeding, mothers' and babies' health, and maternal knowledge about the necessary measures in BFHs. Mothers appreciated baby-friendly changes, such as rooming-in, breastfeeding on baby's demand, and taking care of their babies by themselves. The successful initiation of breastfeeding in the BFHs was shown to favor the promotion of breastfeeding among 1-year-old babies in the experimental areas. However, there were some shortcomings in the BFHs: frequent use of labor anesthesia; insufficient placing of newborns on the mother's abdomen, rooming-in, and initiating breastfeeding immediately; and a short length of "skin-to-skin" contact (<30 minutes). The women in BFHs also observed the use of feeding bottles and dummies, and experienced some problems with breast health. BFH practices can increase breastfeeding rates as well as maternal satisfaction. However, shortcomings in the training and support for mothers, and limited

Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis.

PubMed

Franco, E; Hodgson, S; Lench, N; Roberts, G J

1995-03-01

A case of Nance-Horan syndrome in a male is presented, with some features of the condition in his carrier mother and her mother. It is proposed that Nance-Horan syndrome might be a contiguous gene syndrome mapping to chromosome Xp21.2-p22.3. The proband had congenital cataract microphthalmia and dental abnormalities including screwdriver shaped incisors and evidence of enamel pitting hypoplasia. The region Xp21.2-p22.3 also contains the tooth enamel protein gene, amelogenin (AMGX). Using molecular genetic techniques, we have shown that there is no evidence that the AMGX gene is deleted in this case of the Nance-Horan syndrome.

Baby factories taint surrogacy in Nigeria.

PubMed

Makinde, Olusesan Ayodeji; Makinde, Olufunmbi Olukemi; Olaleye, Olalekan; Brown, Brandon; Odimegwu, Clifford O

2016-01-01

The practice of reproductive medicine in Nigeria is facing new challenges with the proliferation of 'baby factories'. Baby factories are buildings, hospitals or orphanages that have been converted into places for young girls and women to give birth to children for sale on the black market, often to infertile couples, or into trafficking rings. This practice illegally provides outcomes (children) similar to surrogacy. While surrogacy has not been well accepted in this environment, the proliferation of baby factories further threatens its acceptance. The involvement of medical and allied health workers in the operation of baby factories raises ethical concerns. The lack of a properly defined legal framework and code of practice for surrogacy makes it difficult to prosecute baby factory owners, especially when they are health workers claiming to be providing services to clients. In this environment, surrogacy and other assisted reproductive techniques urgently require regulation in order to define when ethico-legal lines have been crossed in providing surrogacy or surrogacy-like services. Copyright © 2015 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report.

PubMed

Pallangyo, Pedro; Lyimo, Frederick; Nicholaus, Paulina; Makungu, Hilda; Mtolera, Maria; Mawenya, Isaac

2016-12-20

Holoprosencephaly is a rare spectrum of cephalic disorders resulting from a failure or incomplete division of the embryonic forebrain into distinct cerebral hemispheres. It is the most common brain malformation with an incidence of 1:250 during embryogenesis; however, owing to the associated high rates of spontaneous abortion the incidence is 1:16,000 among live deliveries. Pathogenesis of holoprosencephaly is complex and heterogeneous involving genetic abnormalities, teratogenic exposures, and syndromic associations. Among the teratogenic exposures, maternal diabetes is a well-established risk factor associated with a 200-fold increased incidence of holoprosencephaly. We report a case of a delayed diagnosis of semilobar holoprosencephaly in a 12-month-old baby boy of African descent who presented to us with a history of global developmental delay, erratic sleep patterns, and poor weight gain. He was born to a type 1 diabetes mellitus mother at 39+ weeks by emergency cesarean section due to fetal distress and breech presentation. The baby weighed 2315 g and had Apgar scores of 6/10 and 8/10 at 1 and 5 minutes respectively. A physical examination done at 12 months of age revealed a small-for-age child with a developmental age of 2 months. He had normal facies but a neurological examination revealed hypotonia in all four limbs. The rest of systemic examination was unremarkable. Hematological and biochemical investigations revealed normal findings except for iron deficiency anemia. The child also underwent magnetic resonance imaging of his brain which revealed distinctive features of semilobar holoprosencephaly. He was treated for iron deficiency anemia with Hemovit syrup (ferric ammonium citrate, folic acid, pyridoxine hydrochloride, cyanocobalamin, and zinc sulfate) 10 ml thrice daily, ferrous sulfate 10 mg once daily, folic acid 1 mg once daily, and multivitamin syrup 5 ml once daily. Furthermore, nutritional and genetic counseling was offered to his parents. In

An unusual case of ectopic ACTH syndrome.

PubMed

Willhauck, M J; Pöpperl, G; Rachinger, W; Giese, A; Auernhammer, C J; Spitzweg, C

2012-02-01

Ectopic ACTH-syndrome is a rare cause of Cushing's disease. Despite extensive diagnostic procedures the source of ACTH secretion often remains occult. This case describes a 45-year old woman with an ectopic Cushing's syndrome. Extensive imaging procedures including CT scan of chest and abdomen, octreotide scan and MRI of the chest and pituitary did not reveal the source of ACTH secretion. In consideration of an occult source of ACTH secretion we started a therapeutic trial with cabergoline (0.5 mg/d), a dopamine receptor agonist, which has been shown to be effective in ectopic Cushing's syndrome. 2 months after cabergoline treatment had been initiated, ACTH and cortisol levels normalized in association with significant improvement of the clinical symptoms. During follow-up a [(68)Ga-DOTA-dPhe(1), Tyr(3)]-octreotate ([(68)Ga-DOTA]-TATE) PET-CT was performed revealing a somatostatin receptor positive lesion in the right sphenoidal sinus suggesting the source of ACTH secretion. The patient was cured by transnasal resection of the polypoid lesion, which was immunohistochemically characterized as an ACTH-positive neuroendocrine tumor. This case report demonstrates the management of ectopic ACTH-syndrome by molecularly -targeted therapy with dopamine receptor -agonists as well as improved detection of the ectopic ACTH source by novel imaging modalities, such as [(68)Ga-DOTA]-TATE PET specifically targeting somatostatin receptor subtype-2 with high affinity. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

Kounis Syndrome During Anesthesia: Presentation of Indolent Systemic Mastocytosis: A Case Report.

PubMed

de la Fuente Tornero, Elena; Vega Castro, Arantza; de Sierra Hernández, Pedro Álvarez; Balaguer Recena, Javier; Zaragoza Casares, Sofía Carmen; Serrano Baylin, Francisco Miguel; Gallardo Culebradas, Paloma; Amorós Alfonso, Beatriz; Rodríguez Fraile, Jose Ramón

2017-05-01

Mastocytosis comprises a heterogeneous group of disorders characterized by mast cell accumulation and proliferation in distinct organs. Kounis syndrome is defined as the concurrence of acute coronary syndromes with mast cell activation in a setting of allergic or hypersensitivity reactions. This is the first reported case of an intraoperative Kounis syndrome as the onset of an indolent systemic mastocytosis probably triggered by succinylated gelatin infusion during general anesthesia. The presentation of this case is intended to contribute to the knowledge of mastocytosis and Kounis syndrome at the time of diagnostic workup during intraoperative anaphylaxis or myocardial ischemia.

Implementing the Fussy Baby Network[R] Approach

ERIC Educational Resources Information Center

Gilkerson, Linda; Hofherr, Jennifer; Heffron, Mary Claire; Sims, Jennifer Murphy; Jalowiec, Barbara; Bromberg, Stacey R.; Paul, Jennifer J.

2012-01-01

Erikson Institute Fussy Baby Network[R] (FBN) developed an approach to engaging parents around their urgent concerns about their baby's crying, sleeping, or feeding in a way which builds their longer-term capacities as parents. This approach, called the FAN, is now in place in new Fussy Baby Network programs around the country and is being infused…

A new case of keratoconus associated with Williams-Beuren syndrome.

PubMed

Viana, Melissa Machado; Frasson, Maria; Leão, Letícia Lima; Stofanko, Martin; Gonçalves-Dornelas, Higgor; Cunha, Pricila da Silva; de Aguiar, Marcos José Burle

2013-09-01

Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. Keratoconus is a complex disease and it is suspected to have a genetic origin, although the specific gene responsible for keratoconus has not been identified. Although there are several ocular features in Williams-Beuren syndrome, keratoconus is not regularly described as part of this syndrome. To report a new patient with keratoconus and Williams-Beuren syndrome. This is the third case of an association between Williams-Beuren syndrome and keratoconus. The authors believe that the Williams-Beuren syndrome chromosome region can be a possible target for further investigation as the genetic basis of keratoconus.

Early diagnosis of Gorlin-Goltz syndrome: case report.

PubMed

Casaroto, Ana R; Loures, Daniela C N Rocha; Moreschi, Eduardo; Veltrini, Vanessa C; Trento, Cleverson L; Gottardo, Vilmar D; Lara, Vanessa S

2011-01-25

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient.

What it means to "spoil" a baby: parents' perception.

PubMed

Wilson, A L; Witzke, D B; Volin, A

1981-12-01

Discussion concerning spoiling a baby frequently takes place in pediatric-care settings and may occur without a clear understanding of how parents define the word "spoil" when baby care is discussed. This study presents data from 531 parents asked to respond to a questionnaire on spoiling babies. The majority of mothers and fathers believe a baby can be spoiled, but considerable variation exists in perceptions of how this takes place, what a spoiled baby is like, and the present and future effects of spoiling. The younger and less educated parents have more rigid and negative views about the effects of spoiling babies.

Neonatal marfan syndrome: report of two cases.

PubMed

Ghandi, Yazdan; Zanjani, Keyhan S; Mazhari-Mousavi, Seyed-Eshagh; Parvaneh, Nima

2013-02-01

Neonatal Marfan syndrome is a rare and severe phenotype of this disease. A poor prognosis is anticipated due to the high probability of congestive heart failure, and mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management at an early age. We present two consecutive patients with this disease who are the first reported cases from Iran to the best of our knowledge. Unfortunately both of them died shortly after diagnosis. Neonatal Marfan syndrome is reported from Iran and has a poor prognosis like the patients reported from elsewhere.

Successful medical management of a case of Austrian syndrome-an uncommon entity in the modern antibiotic era: a case report.

PubMed

Rahim, Muhammad Abdur; Zaman, Shahana; Haque, Hasna Fahmima; Afroze, Samira Rahat; Uddin, Khwaja Nazim

2017-09-06

Austrian syndrome-the combination of meningitis, pneumonia and infective endocarditis due to Streptococcus pneumoniae infection, is a rare entity. In literature only a few hundreds of cases are reported but surprisingly we did not find any report on Austrian syndrome in or from Bangladesh. We report the case history of a middle aged Bangladeshi diabetic man, who had fever, cough, shortness of breath and altered mentation. He had tachycardia, bi-basal lung crepitations, new cardiac murmurs and meningism. Diagnostic work-up revealed Austrian syndrome. Because of the rarity of the condition, this case is reported. A case of pneumococcal pneumonia or meningitis should raise suspicion of concomitant endocarditis and Austrian syndrome, specially if there is heart failure, as early recognition and treatment may appear life-saving.

[Congenital cardiopathy in a patient with Sotos syndrome. Description of a case].

PubMed

Di Marco, G; Levantesi, G; Parisi, G; Chiarelli, A

1989-05-01

The number of cases of Sotos syndrome or cerebral gigantism described in the literature total more than 200. For 6 of these, cardiac malformations were described. The authors report a case of Sotos syndrome in which malformative alterations of the aortic and mitral valves were simultaneously present.

[H syndrome: First reported paediatric case in Latin America].

PubMed

Abarca Barriga, Hugo Hernán; Trubnykova, Milana; Polar Córdoba, Victoria; Ramos Diaz, Katherine Joyce; Aviles Alfaro, Nélida

H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling. To present a clinical case with "typical" characteristics of H Syndrome. The case is presented of an 8-year-old male patient who presented with testicular tumours and skin lesions characterised by hyperpigmentation with hypertrichosis, language delay, short stature, and joint deformities. He also presented with bilateral sensorineural hearing loss, anaemia, hypergammaglobulinaemia, and bone disorders. Histopathology studies of the skin and testicular masses reported lymphoplasmacytic infiltration. Sequencing analysis of gene SLC29A3 showed the homozygote mutation c.1087 C>T (p.Arg363Trp; rs387907067). These findings are consistent with H syndrome, and this is the first reported case in Latin America. The key to the diagnosis is the finding of hyperpigmentation with hypertrichosis. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Potential silver nanoparticles migration from commercially available polymeric baby products into food simulants.

PubMed

Choi, Jeong In; Chae, Song Ji; Kim, Jung Min; Choi, Jae Chun; Park, Se Jong; Choi, Hee Ju; Bae, Hojae; Park, Hyun Jin

2018-05-01

In recent years, silver nanoparticles (AgNPs) have been extensively employed in food packaging systems as a potential antibacterial agent. Although proven to be highly effective, the increased number of AgNP-containing products raises concerns among consumers regarding the migration of AgNPs from the packaging material into foods, which may exert toxic effects. To address this, five baby products were chosen (baby bottle A, baby bottle B, pacifier A, pacifier B and breastmilk storage bag) to investigate AgNPs migration into three food simulants (deionised water, 4% acetic acid (w/v) and 50% ethanol (v/v)) using inductively coupled plasma mass spectrometry (ICP-MS). As a result, the highest level of migrated Ag was observed for 4% acetic acid in the case of baby bottle B, pacifier A, pacifier B and the breastmilk storage bag, with the detection amount ranging from 1.05-2.25 ng/mL. On the other hand, baby bottle A showed the maximum migration for 50% ethanol due to the polymer nature. Finally, a centrifugal ultrafiltration experiment was conducted to determine the fraction of dissolved Ag in acidic simulant and it was found that migrated Ag was predominantly in Ag + form, with a small fraction of non-ionic AgNPs. Thus, it has been found that the amount of migrated Ag in baby products was low; however, the migration was dependent on the type of food simulant and polymer nature.

Kindler syndrome: a case report and proposal for clinical diagnostic criteria.

PubMed

Fischer, Irena Angelova; Kazandjieva, Jana; Vassileva, Snejina; Dourmishev, Assen

2005-06-01

Kindler syndrome is a rare hereditary disorder characterized by acral blister formation in infancy and childhood, progressive poikiloderma, cutaneous atrophy and increased photosensitivity. Since it was first described in 1954, less than 100 cases have been reported worldwide. Recently it has been reported that Kindler syndrome is the first genodermatosis caused by a defect in the actin-extracellular matrix linkage, and the gene was mapped to chromosome 20p12.3. The clinical features of the syndrome have been annotated by different authors but the definite of criteria to confirm the diagnosis have not yet been generally accepted. We report a case of Kindler syndrome that presents a full spectrum of clinical manifestations, and we propose a set of clinical criteria for diagnosis.

Scalene Myofascial Pain Syndrome Mimicking Cervical Disc Prolapse: A Report of Two Cases

PubMed Central

Abd Jalil, Nizar; Awang, Mohammad Saufi; Omar, Mahamarowi

2010-01-01

Scalene myofascial pain syndrome is a regional pain syndrome wherein pain originates over the neck area and radiates down to the arm. This condition may present as primary or secondary to underlying cervical pathology. Although scalene myofascial pain syndrome is a well known medical entity, it is often misdiagnosed as being some other neck pain associated with radiculopathy, such as cervical disc prolapse, cervical spinal stenosis and thoracic outlet syndrome. Because scalene myofascial pain syndrome mimics cervical radiculopathy, this condition often leads to mismanagement, which can, in turn, result in persistent pain and suffering. In the worst-case scenarios, patients may be subjected to unjustifiable surgical intervention. Because the clinical findings in scalene myofascial pain syndrome are “pathognomonic”, clinicians should be aware of ways to recognize this disorder and be able to differentiate it from other conditions that present with neck pain and rediculopathy. We present two cases of unilateral scalene myofascial pain syndrome that significantly impaired the patients’ functioning and quality of life. This case report serves to create awareness about the existence of the syndrome and to highlight the potential morbidity due to clinical misdiagnosis. PMID:22135529

Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report.

PubMed

Bhesania, Dhvani; Arora, Ankit; Kapoor, Sonali

2015-09-01

Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.

Portal hypertension as the initial manifestation of POEMS syndrome: a case report.

PubMed

Wu, Lina; Li, Yue; Yao, Fang; Lu, Chongmei; Li, Jian; Zhou, Weixun; Qian, Jiaming

2017-01-01

Portal hypertension has a broad differential diagnosis. POEMS syndrome is an uncommon cause of it. POEMS syndrome is a rare disease involving multiple organs. In differential diagnosis of portal hypertension, POEMS syndrome should be considered especially when other symptoms such as numbness, organomegaly, endocrine alteration and skin changes also present, as it is highlighted by our case. We report a 46-year-old Chinese male, a teacher, presenting with portal hypertension. Electromyography revealed peripheral neuropathy. Immunofixation showed monoclonal immunoglobulin A lambda protein. The diagnosis of POEMS syndrome was established. After treatment of lenalidomide combined with dexamethasone over 2 years, the patient achieved a considerable improvement. This case highlights the manifestation of portal hypertension in POEMS syndrome. Lenalidomide with or without dexamethasone is effective for portal hypertension due to POEMS syndrome, though esophageal and gastric varices seems not reversible so easily.

A case of orbital apex syndrome due to Pseudomonas aeruginosa infection

PubMed Central

Kusunoki, Takeshi; Kase, Kaori; Ikeda, Katsuhisa

2011-01-01

Orbital apex syndrome is commonly been thought to have a poor prognosis. Many cases of this syndrome have been reported to be caused by paranasal sinus mycosis. We encountered a very rare case (60-year-old woman) of sinusitis with orbital apex syndrome due to Pseudomonas aeruginosa infection. She had received insulin and dialysis for diabtes and diabetic nephropathy, moreover anticoagulants after heart by-pass surgery. She underwent endoscopic sinus operation and was treated with antibiotics, but her loss of left vision did not improve. Recently, sinusitis cases due to Pseudomonas aeruginosa were reported to be a increasing. Therefore, we should consider the possibility of Pseudomonas aeruginosa as well as mycosis as infections of the sinus, especially inpatients who are immunocompromised body. PMID:24765368

A case of orbital apex syndrome due to Pseudomonas aeruginosa infection.

PubMed

Kusunoki, Takeshi; Kase, Kaori; Ikeda, Katsuhisa

2011-09-28

Orbital apex syndrome is commonly been thought to have a poor prognosis. Many cases of this syndrome have been reported to be caused by paranasal sinus mycosis. We encountered a very rare case (60-year-old woman) of sinusitis with orbital apex syndrome due to Pseudomonas aeruginosa infection. She had received insulin and dialysis for diabtes and diabetic nephropathy, moreover anticoagulants after heart by-pass surgery. She underwent endoscopic sinus operation and was treated with antibiotics, but her loss of left vision did not improve. Recently, sinusitis cases due to Pseudomonas aeruginosa were reported to be a increasing. Therefore, we should consider the possibility of Pseudomonas aeruginosa as well as mycosis as infections of the sinus, especially inpatients who are immunocompromised body.

The association between prune belly syndrome and dental anomalies: a case report.

PubMed

Basso, Maria Daniela; Favretto, Carla Oliveira; Cunha, Robson Frederico

2012-12-18

Prune belly syndrome is a rare condition produced by an early mesodermal defect that causes abdominal abnormalities. However, the literature indicates that disturbances related to ectodermal development may also be present. This is the first case report in the literature to suggest that dental abnormalities are part of the broad spectrum of clinical features of prune belly syndrome. Because the syndrome causes many serious medical problems, early diagnosis of abnormalities involving the primary and permanent dentitions are encouraged. The authors report the clinical case of a 4-year-old Caucasian boy with prune belly syndrome. In addition to the triad of abdominal muscle deficiency, abnormalities of the gastrointestinal and urinary tracts, and cryptorchidism, a geminated mandibular right central incisor, agenesis of a mandibular permanent left incisor, and congenitally missing primary teeth (namely, the mandibular right and left lateral incisors) were noted. This original case report about prune belly syndrome highlights the possibility that dental abnormalities are a part of the broad spectrum of clinical features of the syndrome. Therefore, an accurate intra-oral clinical examination and radiographic evaluation are required for patients with this syndrome in order to provide an early diagnosis of abnormalities involving the primary and permanent dentitions.

Well-Baby Exam: What to Expect during Routine Checkups

MedlinePlus

... many hours does your baby sleep during the day? At night? How often do you feed your baby? If you're breast-feeding, are you having any trouble? How many diapers does your baby wet and soil in a day? How active is your baby? Are you including ...

Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome

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

Ignacio Rodriquez, J.; Garcia, I.; Alvarez, J.

1994-11-01

The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by {open_quotes}coarse{close_quotes} face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a {open_quotes}coarse{close_quotes} face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister-Killian syndrome, especially if karyotyping is unavailable or if peripheral lumphocytes have a normal chromosome constitution. An initial diagnosis of Fryns syndrome had to be modified in 3 successive newbornmore » infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister-Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of {open_quotes}coarse{close_quotes} face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this phenotype, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling. 31 refs., 10 figs., 1 tab.« less

Metachronous Uterine Endometrioid Adenocarcinoma and Peritoneal Mesothelioma in Lynch Syndrome: A Case Report.

PubMed

Lu, Yuxin; Milchgrub, Sara; Khatri, Gaurav; Gopal, Purva

2017-05-01

Lynch syndrome is a hereditary disease with germline mutation in a DNA mismatch repair gene, most often presenting with colorectal and/or endometrial carcinomas; however, the spectrum of Lynch syndrome-associated tumors is expanding. In this article, we report a case of a primary peritoneal epithelioid mesothelioma that developed in a Lynch syndrome patient 10 months after diagnosis of uterine endometrioid adenocarcinoma. To our knowledge, this is the first reported case of a Lynch syndrome patient with metachronous uterine endometrioid adenocarcinoma and primary peritoneal mesothelioma.

[Trisomy 18 syndrome: A case report].

PubMed

Saldarriaga, Wilmar; Rengifo-Miranda, Heidy; Ramírez-Cheyne, Julián

2016-01-01

The trisomy 18 syndrome occurs due to the presence of an extra chromosome 18 in most cases. The prevalence in infants is estimated at 1:6000 to 1:8000. Those affected have a high mortality rate, only 4% may survive their first year of life. There are few reported cases exceeding five years of age. The aim of this paper is to report a case of trisomy 18 of long survival with oral cavity features not described in the literature, and to provide information to physicians and paediatricians about aetiology, phenotype, survival and genetic counselling. A 7 year-old female patient with 2 karyotypes performed by lymphocyte culture showing 47XX+18 in all metaphases. She presented with growth deficiency, dysmorphic facies, severe psychomotor retardation and cognitive disability, inability to feed, lack of verbal language, sensorineural hearing loss, ataxia, cerebellar hypoplasia, and genitals with hypoplastic labia majora and minora. In the oral cavity: dome shaped palate, macroglossia, absence of upper central incisors and first upper and lower molars in mouth. X-ray findings showed formation of missing teeth, with late eruption being concluded. In cases of trisomy 18 syndrome there is an increased risk of neonatal and infant mortality. The clinical characteristics in utero and in neonates have been well described. Since few cases exceeding five years of age have been reported, the phenotype is yet to be established. In the case being reported we describe oral cavity findings not documented in the literature. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review.

PubMed

Andrade, Luis Jesuino de Oliveira; Andrade, Rafael; França, Caroline Santos; Bittencourt, Alcina Vinhaes

2009-01-01

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.

Dual intersection syndrome of the forearm: a case report

PubMed Central

Zhari, Bouchra; Edderai, Meryem; Boumdine, Hassan; Amil, Touriya; En-nouali, Hassan

2015-01-01

The intersection syndrome, described since the 19th century, is an uncommon disorder associated with rubbing at the crossing point between the first dorsal compartment muscles and the radial wrist extensor muscles. Imaging modalities used to diagnosis this syndrome includes ultrasonography and magnetic resonance imaging. We reported a case of a 60-year-old man presented to our formation with painful swelling on the dorsum of the wrist and forearm. An MRI and an ultrasound were performed, and objectified a dual cross syndrome of the forearm. PMID:26587172

A case-control evaluation of fungiform papillae density in burning mouth syndrome.

PubMed

Naud, Jason M; Benca, Laura; Drangsholt, Mark T; LeResche, Linda; Coldwell, Susan E

2018-04-01

It has been hypothesized that high fungiform papillae density may be a risk factor for developing the taste and pain alterations characteristic of burning mouth syndrome. Evaluate whether fungiform papillae density, taste sensitivity, and mechanical pain sensitivity differ between burning mouth syndrome cases and controls. This case-control study compared cases diagnosed with primary burning mouth syndrome with pain-free controls. Participants (17 female cases and 23 female controls) rated the intensity of sucrose, sodium chloride, citric acid, and quinine applied separately to each side of the anterior tongue and sampled whole mouth. Mechanical pain sensitivity was assessed separately for each side of the tongue using weighted pins. Digital photographs of participants' tongues were used to count fungiform papillae. Burning mouth syndrome cases had increased whole mouth taste intensity. Cases also had increased sensitivity to quinine on the anterior tongue, as well as increased mechanical pain sensitivity on the anterior tongue. Fungiform papillae density did not differ significantly between cases and controls. Fungiform papillae density on the left and right sides of the tongue were correlated in controls; however, there was no left/right side correlation in cases. Cases had increased pain and taste perception on the anterior tongue. The lack of correlation between left and right fungiform papillae density in cases may be an indication of asymmetrical lingual innervation in these patients. 3b. Laryngoscope, 128:841-846, 2018. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

[Chronicle myeloid leukemia and hiperviscosity syndrome: case report].

PubMed

Amâncio, Juliana; Scuro, Gisele; Gazoni, Fernanda Martins; Guimarães, Hélio Penna; Vendrame, Letícia Sandre; Lopes, Renato Delascio; Lopes, Antônio Carlos

2008-03-01

Hyperleukocytosis (> 100 x 10(9)/L) is an uncommon presentation of chronic leukemias and it can present clinical symptoms of hyperviscosity syndrome. Hearing loss and blindness rarely occurs in patients with leukemia; however, it can be strong association with hyper-viscosity syndrome. The purpose of this paper is to report a case of acute hearing loss as the initial manifestation of acute leukemia and hyper-viscosity syndrome and also mainly aspects of the intensive care treatment. A 41 year-old, male patient, who has been complaining about dizziness for six months with no response to symptomatic medications, was admitted to the emergency department with acute hearing loss. The physical examination was normal except for a bilateral hearing loss without an apparent cause. Laboratory exams showed total leukocyte: 645.000 with 66.4% blasts, hemoglobin: 7.0, hematocrit: 20.5, urea: 94, creatinine: 1.59, K: 5.6, Na: 138, INR: 1.38, TTPa: 0.89, troponin lower than 0.2, CK: 218, CKMB: 50, uric acid: 11.1. After a first hypothesis of leukemia with a high risk of hyper-viscosity complications, the patient was admitted to the Intensive Care Unit for monitoring and treatment. A bone marrow biopsy was performed and than started hidratation, hydroxyurea, allopurinol, dexamethasone. According to hematologists the patient had a chronic myeloid leukemia. Leukopheresis was performed one week after admission when total blood leukocytes were around 488.000. Ten days after the procedure the patient had no improvement of the hearing loss but total leukocytes were 10.100. He was discharge to the ward and 2 weeks later went home to continue ambulatory treatment. The frequency of sensitive manifestations in patients with leukemia include not only visual and hearing loss but also many others manifestations such as conductive vertigo, facial palsy and infections. Hyperviscosity syndrome due to hyperleukocytosis is also a possible cause of sensorial loss, but the syndrome is often dependent

Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

PubMed

Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

2011-11-05

To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

Platypnea-orthodeoxia syndrome in the right lateral decubitus position: a case report.

PubMed

Tsuzuki, Ippei; Iigaya, Kamon; Matsubara, Takashi; Takagi, Shunsuke; Inohara, Taku; Ohgino, Yasuyuki; Imafuku, Toshio

2017-04-12

Platypnea-orthodeoxia syndrome is a rare syndrome characterized by dyspnea and hypoxia when the patient is sitting or standing. Here we report a case of platypnea-orthodeoxia syndrome caused by a right hemidiaphragmatic elevation with giant liver cyst that triggered a right-to-left shunt through the patent foramen ovale. This case report is the first presentation of a case secondary to hemidiaphragmatic elevation with giant liver cyst. In addition to this, a malposition of the pacemaker lead could be associated with platypnea-orthodeoxia syndrome in this case. A 91-year-old Japanese woman presented to our hospital with hypoxia of unknown origin. Severe hypoxia and cyanosis were observed only in the right lateral decubitus position. A chest X-ray and computed tomography scan revealed right hemidiaphragmatic elevation, which was probably compressing the right atrium. A transesophageal echocardiogram showed a compressed right atrium and shunt blood flow in both directions: from the left to the right atrium and vice versa. The shunt flow was exacerbated by postural changes from the left to the right lateral decubitus. A transesophageal echocardiogram also confirmed compression of the right atrium due to giant liver cyst and a malposition of the pacemaker lead abnormally placed in the left atrium through patent foramen ovale. We concluded that the cause of hypoxia was platypnea-orthodeoxia syndrome with right-to-left interatrial shunt through patent foramen ovale. Surgical closure of patent foramen ovale was not performed due to the age of our patient, surgical difficulties, and failure to obtain informed consent. For these reasons she was discharged after receiving medical advice about her posture. Platypnea-orthodeoxia syndrome is rare and difficult to diagnose. The present case suggests that hypoxia due to postural changes should be considered a differential diagnosis of platypnea-orthodeoxia syndrome.

Concurrent insulinoma with mosaic Turner syndrome: A case report.

PubMed

Wang, Shaoyun; Yang, Lijuan; Li, Jie; Mu, Yiming

2015-03-01

Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature.

PubMed

Biazzo, Alessio; Di Bernardo, Andrea; Parafioriti, Antonina; Confalonieri, Norberto

2017-08-23

Mazabraud syndrome is a very rare benign disorder characterized by the association of monostotic or polyostotic fibrous dysplasia and one or multiple intramuscular myxomas. McCune -Albright syndrome is a rare benign disorder characterized by the association of polyostotic fibrous dysplasia, cafè-au-lait skin pigmentations and endocrine dysfunction, such as precocious puberty, diabetes mellitus, goiter and breast fibroadenomatosis. The association of Mazabraud syndrome and McCune-Albright in the same patient is an anecdotal event. We report the case of a 28-year-old girl with Mazabraud syndrome associated with McCune-Albright syndrome. Our literature review shows that in these patients there is a higher risk of malignant transformation of fibrous dysplasia into osteosarcoma, confirming previous reports. Conversely, no malignant transformation has been reported for myxomas in isolated Mazabraud syndrome or in the association with McCune-Albright syndrome. We conclude that these patients should be scheduled to a close and long-term follow-up.

Neonatal respiratory distress syndrome: Chest X-ray or lung ultrasound? A systematic review

PubMed Central

Culpan, Anne-Marie; Watts, Catriona; Munyombwe, Theresa; Wolstenhulme, Stephen

2017-01-01

Background and aim Neonatal respiratory distress syndrome is a leading cause of morbidity in preterm new-born babies (<37 weeks gestation age). The current diagnostic reference standard includes clinical testing and chest radiography with associated exposure to ionising radiation. The aim of this review was to compare the diagnostic accuracy of lung ultrasound against the reference standard in symptomatic neonates of ≤42 weeks gestation age. Methods A systematic search of literature published between 1990 and 2016 identified 803 potentially relevant studies. Six studies met the review inclusion criteria and were retrieved for analysis. Quality assessment was performed before data extraction and meta-analysis. Results Four prospective cohort studies and two case control studies included 480 neonates. All studies were of moderate methodological quality although heterogeneity was evident across the studies. The pooled sensitivity and specificity of lung ultrasound were 97% (95% confidence interval [CI] 94–99%) and 91% (CI: 86–95%) respectively. False positive diagnoses were made in 16 cases due to pneumonia (n = 8), transient tachypnoea (n = 3), pneumothorax (n = 1) and meconium aspiration syndrome (n = 1); the diagnoses of the remaining three false positive results were not specified. False negatives diagnoses occurred in nine cases, only two were specified as air-leak syndromes. Conclusions Lung ultrasound was highly sensitive for the detection of neonatal respiratory distress syndrome although there is potential to miss co-morbid air-leak syndromes. Further research into lung ultrasound diagnostic accuracy for neonatal air-leak syndrome and economic modelling for service integration is required before lung ultrasound can replace chest radiography as the imaging component of the reference standard. PMID:28567102

The total thermal insulation of the new-born baby

PubMed Central

Hey, E. N.; Katz, G.; O'Connell, Bridget

1970-01-01

1. One hundred and seventeen healthy new-born babies weighing between 0·9 and 4·8 kg at delivery have been studied during the first ten days of life, and sixteen of these babies have been studied serially for 6 weeks after birth. The babies lay supine in a draught-free environment (air speed 4-5 cm/sec) of moderate humidity. The operative temperature was between 26 and 38° C for the babies who were studied naked. 2. Total non-evaporative heat loss was calculated from simultaneous measurements of oxygen consumption, evaporative water loss and the concomitant change in mean body temperature. 3. Approximately 10% of the total body surface area was in contact with the mattress or floor. Conductive heat loss accounted for only about 5% of all non-evaporative heat loss when the naked baby was lying on a thick foam mattress, but for as much as 25% when the baby was lying in a water-jacketed chamber with a floor of clear plastic ∼ 5 mm thick. 4. Insulation to heat loss by convection and radiation varied with environmental temperature. Total specific insulation was low in a warm environment when the naked baby vasodilated, and rose by between 16 and 25% to a maximum in an environment of 31° C. It decreased significantly when the baby became physically active in environments with a temperature less than this. 5. Total specific insulation in an environment of 31° C varied with body size: it averaged 0·156° C.m2.hr/kcal in seven naked babies weighing 0·9-1·2 kg, rose to 0·190° C.m2.hr/kcal in twelve babies weighing 1·8-2·2 kg, and averaged 0·201° C.m2.hr/kcal in the thirty-four babies who weighed over 3 kg. Tissue insulation accounted for 23% of this total specific insulation in the smaller babies, and about 28% of the total in babies weighing over 3 kg. 6. Clothing ten babies in a vest, napkin and long cotton nightdress increased the total specific insulation by an average of 0·23° C.m2.hr/kcal. PMID:5503276

Multiple abdominal cysts in a patient with Gorlin-Goltz syndrome: a case report.

PubMed

Haenen, F; Hubens, G; Creytens, D; Vaneerdeweg, W

2013-01-01

A rare case of symptomatic mesenteric cysts in a patient with Gorlin-Goltz syndrome, associated with various neoplasms, is presented. The patient, known with Gorlin-Goltz syndrome, consulted with increasingly severe abdominal pain and large abdominal cysts. At surgery, the cysts were excised and the postoperative course was uneventful. In conclusion, this case reminds clinicians to always maintain a wide differential diagnosis when dealing with patients known with Gorlin-Goltz syndrome.

Scoliosis in Steinert syndrome: a case report.

PubMed

Themistocleous, George S; Sapkas, George S; Papagelopoulos, Panayiotis J; Stilianessi, Eugenia V; Papadopoulos, Elias Ch; Apostolou, Constantinos D

2005-01-01

Steinert syndrome is described as an autosomal dominant condition characterized by progressive muscular wasting, myotonia, musculoskeletal manifestations and rare spinal defects. Little is reported about spinal deformity associated with this syndrome. We present a patient with Steinert syndrome complicated by scoliosis. In the literature on muscular dystrophy, other than Duchenne, little mention is given to the problem of scoliosis in general and its treatment in particular. A case report of a patient with Steinert syndrome associated with thoracic scoliosis and hypokyphosis is presented. A 17-year-old boy presented with King type II right thoracic scoliosis (T5-T11, Cobb angle of 40 degrees) and hypokyphosis--10 degrees. He was treated with posterior stabilization and instrumentation at level T3-L2 with a postoperative correction of the scoliotic curve to 20 degrees. Histopathologic examination of the muscles confirmed the diagnosis of Steinert myotonic dystrophy. At 30-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of deformity correction. Scoliosis in Steinert syndrome shares the characteristic of an arthrogrypotic neuromuscular curve and demands the extensive soft tissue release for optimal surgical correction. Intraoperative observations included profound tissue bleeding, abnormally tough soft tissues and a difficult recovery from anaesthesia.

Ectopic Cushing syndrome: Report of 9 cases.

PubMed

Araujo Castro, Marta; Palacios García, Nuria; Aller Pardo, Javier; Izquierdo Alvarez, Cristina; Armengod Grao, Laura; Estrada García, Javier

2018-05-01

Ectopic Cushing's syndrome (ECS) is a rare condition caused by ACTH secretion by extrapituitary tumors. Its low frequency makes it difficult to acquire experience in its management. The aim of this study was to describe patients with ECS seen at the endocrinology department of a tertiary hospital over 15 years. This was a retrospective study of the clinical, biochemical and radiographic data, treatment, and course of patients with ECS seen from 2000 to 2015. Nine patients (6 of them female) with a mean age of 47 years were included in the study. The clinical syndrome developed in less than 3 months in all cases but one, and most patients also had edema, hyperpigmentation and/or hypokalemia. Mean urinary free cortisol and ACTH levels were 2,840μg/24h and 204pg/mL respectively. The ectopic origin was confirmed by a combination of dynamic non-invasive tests and radiographic studies in most cases. The tumor responsible could be identified in 8 cases, and 7 patients had metastatic dissemination. Primary treatment was surgery in one patient, surgery combined with systemic therapy in 3, and chemotherapy in the other 3 patients. Bilateral adrenalectomy was required in 4 patients to control hypercortisolism. After a mean follow-up of 40 months, 3 patients died, 5 were still alive, and one had been lost to follow-up. Our study confirms that ECS covers a wide spectrum of tumors of different aggressiveness and nature. The ectopic origin of Cushing's syndrome can usually, be suspected and confirmed in most cases without the need for invasive tests. Control of both hypercortisolism and the tumor requires multiple treatment modalities, and multidisciplinary management is recommended. Copyright © 2018 SEEN y SED. Publicado por Elsevier España, S.L.U. All rights reserved.

Antithyroid Arthritis Syndrome: A Case Report and Review of the Literature

PubMed Central

Takaya, Kazuhiko; Kimura, Natsumi; Hiyoshi, Toru

2016-01-01

We herein report the case of a 38-year-old Japanese woman with antithyroid arthritis syndrome who experienced severe migratory polyarthritis after the initiation of thiamazole therapy. The patient's symptoms promptly disappeared without any sequelae after the withdrawal of the drug. Antithyroid arthritis syndrome is poorly characterized, and the findings from our literature review indicate that this syndrome exhibits serological features that are distinct from those of antithyroid agent-induced vasculitis syndrome. The absence of autoantibodies, especially anti-neutrophil cytoplasmic antibodies, may help characterize and diagnose antithyroid arthritis syndrome. Furthermore, physicians' awareness of this syndrome is essential for its diagnosis in clinical practice. PMID:27980264

Non-Hodgkin's lymphoma in McKusick syndrome. A case report.

PubMed

Torkzad, M R; Hjalmar, V; Blomqvist, L

2002-07-01

The McKusick syndrome in a female who developed highly malignant lymphoma at the age of 23, with multiple parenchymal lesions involving both kidneys, the lungs and the pancreas and also splenomegaly but without lymphadenopathy, is described together with diagnostic imaging findings. McKusick syndrome is associated with impaired cell-mediated immunity and might, like several other similar syndromes, harbor an increased risk of certain types of lymphoma. To our knowledge, there are no previous reports of non-Hodgkin's lymphoma in a patient with McKusick syndrome. The increased incidence of lymphoma in certain cases of congenital immunodeficiency raises the issue of a possible relationship between McKusick syndrome and lymphoma and could perhaps serve as one of the primary steps for a further characterization of this syndrome.

Waardenburg Syndrome: A Case Study of Two Patients.

PubMed

Sharma, Karan; Arora, Archana

2015-09-01

Waardenburg syndrome is an autosomal dominant disorder with an incidence of 1 in 40,000 that manifests with sensorineural deafness, pigmentation defects of the skin, hair and iris and various defects of neural crest-derived tissues. This genetically heterogeneous disease accounts for >2 % of the congenitally deaf population. Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. We here report a case of 12 year old female who presented with chief complaint of decreased hearing in both ears and had clinical features consistent with Waardenburg syndrome. She had a distinct white forelock of hair in the midline along with striking bilateral blue iris. Also a white depigmented patch was present on the right forearm. Both eyes had bright red fundal reflex with choroidal depigmentation. Her younger brother, the second case in this study, had similar blue eyes, white forelock of hair, depigmented skin patch and choroidal depigmentation but with normal hearing. Their father had a history of premature graying of hair. All the primary care physicians coming across a child with blue eyes and white forelock of hair should get the child's hearing tested at the first instance, if not already tested. An early diagnosis and improvement of hearing impairment with timely intervention are the most important for psychological and intellectual development of children with Waardenburg syndrome.

An Interesting Case of Tolosa-Hunt Syndrome in a Young Male.

PubMed

Murtaza, Ghulam; Konowitz, Nicholas; Lu, Hannah; Faqah, Anadil; Kuruvilla, Aneesh

2017-01-01

Tolosa-Hunt syndrome is a rare disease with a limited number of cases reported in the literature. It typically presents with orbital pain associated with palsy of the third, fourth, or sixth cranial nerve. We present an interesting case of Tolosa-Hunt syndrome in a young male who responded well to high-dose steroids and in a few days had significant improvement in his retro-orbital pain and ocular movements.

An unusual case of KBG syndrome with unique oral findings

PubMed Central

Hafiz, Abdul; Mufeed, Abdulla; Ismael, Mohamad; Alam, Mheboob

2015-01-01

KBG syndrome is a condition characterised by macrodontia, neurological disturbance, short stature, a distinct cranio-facial appearance, and skeletal anomalies. The authors describe what appears to be the first case of KBG syndrome reported from the Indian subcontinent. Meticulous evaluation of the dental findings helps to identify such cases which may otherwise remain undiagnosed. Further research is warranted to determine the classic and variant presentations of this condition, with follow-up data providing valuable insights into its natural history and long-term prognosis. PMID:26187867

Goldston syndrome in a fetus: case report and literature review.

PubMed

Avcu, Serhat; Akdeniz, Hüseyin; Unal, Ozkan; Kurdoğlu, Mertihan

2010-01-01

We present a case of the Goldston syndrome which is the association of polycystic kidneys with Dandy-Walker malformation. The diagnosis was made by ultrasound in twenty second week of gestation. Obstetric ultrasound and fetal MRI studies showed hydrocephalus, agenesis of the cerebellar hemispheres, vermian hypoplasia, cystic dilatation of the 4(th) ventricle, enlargement of the posterior fossa, abdominal distension, and oligohydramnios.. The kidneys were symmetrically enlarged and multicystic. To our knowledge this is the third reported case of Goldston syndrome which was diagnosed during intrauterine life.

Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report.

PubMed

Saldarriaga, Wilmar; Ruiz, Fabian Andres; Tassone, Flora; Hagerman, Randi

2017-09-01

Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Cytogenetic testing detected the presence of a complete trisomy 21. A combination of PCR and Southern blot analysis was utilized to document the presence of the FMR1 full mutation. The patient has physical characteristics and behavioural disturbances typical of both FXS and DS, which were confirmed by molecular testing. Her treatment plan included a trial of sertraline because of the severity of her shyness and lack of language. She had an excellent response to sertraline with improvement in shyness and social interactions, particularly with family members. In this study, we report the case of a woman with both FXS and DS, which is the fifth case of FXS and DS in the world's literature. The patient is from Ricaurte, a small town in Colombia, South America, where there is the world's highest prevalence for FXS. © 2016 John Wiley & Sons Ltd.

Babies, Television and Videos: How Did We Get Here?

ERIC Educational Resources Information Center

Wartella, Ellen; Richert, Rebekah A.; Robb, Michael B.

2010-01-01

Baby media have exploded in the past decade, and children younger than 2 are showing increased use of these baby media. This paper examines the historical evidence of babies' use of television since the 1950s as well as the various factors that have given rise to the current increase in screen media for babies. We also consider the ubiquitous role…

Placental expression of anti-angiogenic proteins in mirror syndrome: a case report.

PubMed

Graham, N; Garrod, A; Bullen, P; Heazell, A E P

2012-06-01

Mirror syndrome is a rare disorder in which fetal hydrops is associated with maternal oedema, proteinuria and hypertension. The aetiology of the maternal condition is unknown, but it is thought to be related to preeclampsia. Few descriptions exist of placental morphology in mirror syndrome, but placentomegaly is consistently observed. In this case placental morphology showed villous oedema and syncytial nuclear aggregates where villi were in direct contact. Immunoperoxidase staining for VEGFR1 and Endoglin was more intense in mirror syndrome compared to gestational-age matched controls,and at a similar level to a case of preeclampsia. Placentally-derived anti-angiogenic factors may be involved in the pathogenesis of mirror syndrome. Copyright © 2012 Elsevier Ltd. All rights reserved.

Case report: Guillain-Barre syndrome with pneumococcus - A new association in pediatrics.

PubMed

Khatib, Hassan El; Naous, Amal; Ghanem, Soha; Dbaibo, Ghassan; Rajab, Mariam

2018-01-01

Guillain-Barre Syndrome, an acute flaccid paralysis known to be caused by recent Gastro-intestinal infections mainly campylobacter, and Respiratory infections mainly mycoplasma pneumoniae and influenza. One reported case of severe invasive pneumococcal disease in a 68 year old female, that presented with Austrian's triad of meningitis, pneumonia and endocarditis, and progressed to develop Guillain Barre syndrome, an association never been documented before. We present a case of 13 year old male, presented with hypoactivity and inability to bare his own weight, developed septic shock due to pneumococcus with Acute Respiratory Distress Syndrome, and was found to have neurological findings of Guillain-Barre Syndrome. A new association in pediatric age group, never been reported before.

Gorlin-Goltz Syndrome: Case report and literature review

PubMed Central

Ramesh, Maya; Krishnan, Ramesh; Chalakkal, Paul; Paul, George

2015-01-01

Gorlin-Goltz syndrome (GGS) is an infrequent multisystemic disease with an autosomal dominant trait, with complete penetrance and variable expressivity, though sporadic cases have been described. This article includes a case report and an extensive review of the GGS with regard to its history, incidence, etiology, features, investigations, diagnostic criteria, keratocystic odontogenic tumor and treatment modalities. PMID:26604511

Gorlin-Goltz Syndrome: Case report and literature review.

PubMed

Ramesh, Maya; Krishnan, Ramesh; Chalakkal, Paul; Paul, George

2015-01-01

Gorlin-Goltz syndrome (GGS) is an infrequent multisystemic disease with an autosomal dominant trait, with complete penetrance and variable expressivity, though sporadic cases have been described. This article includes a case report and an extensive review of the GGS with regard to its history, incidence, etiology, features, investigations, diagnostic criteria, keratocystic odontogenic tumor and treatment modalities.

Development of the e-Baby serious game with regard to the evaluation of oxygenation in preterm babies: contributions of the emotional design.

PubMed

Fonseca, Luciana Mara Monti; Dias, Danielle Monteiro Vilela; Góes, Fernanda Dos Santos Nogueira; Seixas, Carlos Alberto; Scochi, Carmen Gracinda Silvan; Martins, José Carlos Amado; Rodrigues, Manuel Alves

2014-09-01

The present study aimed to describe the development process of a serious game that enables users to evaluate the respiratory process in a preterm infant based on an emotional design model. The e-Baby serious game was built to feature the simulated environment of an incubator, in which the user performs a clinical evaluation of the respiratory process in a virtual preterm infant. The user learns about the preterm baby's history, chooses the tools for the clinical evaluation, evaluates the baby, and determines whether his/her evaluation is appropriate. The e-Baby game presents phases that contain respiratory process impairments of higher or lower complexity in the virtual preterm baby. Included links give the user the option of recording the entire evaluation procedure and sharing his/her performance on a social network. e-Baby integrates a Clinical Evaluation of the Preterm Baby course in the Moodle virtual environment. This game, which evaluates the respiratory process in preterm infants, could support a more flexible, attractive, and interactive teaching and learning process that includes simulations with features very similar to neonatal unit realities, thus allowing more appropriate training for clinical oxygenation evaluations in at-risk preterm infants. e-Baby allows advanced user-technology-educational interactions because it requires active participation in the process and is emotionally integrated.

Susac syndrome: the first case report in Peru.

PubMed

Rivadeneira-Sotelo, Carolina; Meza Vega, María; Segura-Chávez, Darwin; Castro-Suarez, Sheila

2017-08-30

Susac Syndrome is a rare entity, characterized by a triad of subacute encephalopathy, retinal artery occlusion and sensorineural hearing loss. It is more common in women and the age of onset fluctuates between 9-58 years of age. The pathogenesis is presented as microangiopathic changes at the cerebral, retinal and cochlear levels associated with an autoimmune mechanism. We present the case of a 31-year-old woman who started with a diffuse headache, puerile behavior, bradylalia and somnolence. As the disease progressed, she had auditory deficit and arterial obstruction of the right temporal retinal branch in retinal fluorescein angiography. Brain magnetic resonance showed rounded hyperintense lesions in the corpus callosum, periventricular region and cerebellum. This is the first reported case of Susac Syndrome in Peru, presented with the classic triad, which is an infrequent presentation. However, cases that show incomplete forms should be evaluated in a timely manner to initiate timely treatment and avoid irreversible consequences.

[Larsen syndrome: two reports of cases with spinal cord compromise].

PubMed

Martín Fernández-Mayoralas, D; Fernández-Jaén, A; Muñoz-Jareño, N; Calleja-Pérez, B; San Antonio-Arce, V; Martínez-Boniche, H

Larsen syndrome is characterised by untreatable congenital dislocation of multiple body joints, along with marked foot deformities. These patients have a flattened face with a short nose, a broad depressed nasal bridge and a prominent forehead. In this clinical note our aim is to report two cases that coursed with spinal cord compromise. Case 1: an 18-month-old female with congenital dislocation of knees and hips. The patient had a flat face, sunken root of nose, and carp mouth. Magnetic resonance imaging of the spine showed severe cervical kyphosis secondary to malformation and hypoplasia of the cervical vertebral bodies and important compression of the spinal cord. Clinically, there were also signs of upper motor neuron syndrome, which was especially prominent in the lower limbs. Case 2: a 14-year-old male with a characteristic face and dislocation of the head of the radius. The patient presented amyotrophy of the muscles in the right hand and clinical signs of lower motor neuron syndrome due to neuronal damage secondary to spinal malformations. Larsen syndrome is an infrequent osteochondrodysplasia. Alteration of the spine is common and may give rise to spinal cord compression with varying clinical repercussions which require surgical treatment in the early years of the patient's life.

[Hellp syndrome. Presentation of a case and review of the literature].

PubMed

Vargas Hernández, V M; Romo Vázquez, L M; Oros Ramírez, J A

1991-07-01

A severe case of preeclampsia with Hellp Syndrome is reported. Clinical findings, laboratory abnormalities and pathogenesis, were discussed. We concluded that severe preeclampsia and Hellp Syndrome are not different diseases, but the natural course of preeclampsia per se.

Generalized epilepsy in a patient with mosaic Turner syndrome: a case report.

PubMed

Jhang, Kai-Ming; Chang, Tung-Ming; Chen, Ming; Liu, Chin-San

2014-04-02

Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic-clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. A 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic-clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome. There is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies.

Activity of the Baby Sun

NASA Astrophysics Data System (ADS)

Katsova, M. M.; Livshits, M. A.; Mishenina, T. V.; Nizamov, B. A.

2017-05-01

An analysis of the X-ray radiation of G-stars shows that the youngest fast rotating stars are characterized by saturation of activity, but part of stars demonstrate the solar-type activity, starting from rotational periods of 1.4 days. This type of activity, the level of which is determined by the rate of axial rotation, includes the formation of spots, flares and etc; first, activity is irregular, and only then there are conditions for the formation of cycles. The Kepler data show that stars of the same spectral type demonstrate two activity levels. This bimodality of different distributions of stars, change in a character of cycles and a level of Жiзнь i Bceлeннaya flare activity are evidences for an evolution of activity versus the age. By the nature of activity, we call conditionally G-dwarfs with rotation periods from 1 day to 5-6 days by the term "the Baby Sun" (the maximal number of these stars has Prot = 3 d), and we refer G-stars with Prot from 10 to 18 days to "the Young Suns". Ages of the main amount of the Baby Sun are around 200-600 Myr and the Young Sun are of about 1-2 Gyr. The Baby Suns are characterized by enhanced lithium content. We estimate the quasi-stationary X-ray and farultraviolet radiation of the outer atmosphere of the Baby Sun. From the GALEX data we obtain the FUV flux in the range 1350-1750 A for this kind of stars at the distance of 1 AU is 12.8 ± 4.2 erg/(cm^2 c), that exceeds the FUV-flux of the contemporary Sun by more than 6 times. The Kepler data demonstrate that the superflares happen more often namely on the Baby Suns. Our estimate is that superflares of the total energies 10^35 erg occur on the Baby Sun of about one per year.

Dandy-Walker syndrome together with occipital encephalocele.

PubMed

Cakmak, A; Zeyrek, D; Cekin, A; Karazeybek, H

2008-08-01

Dandy-Walker malformation is an anomaly characterized by dysgenesis of the foramina of Magendie and Lushka in the upper 4(th) ventricle, hypoplasia of the cerebellar vermis and agenesis of the corpus callosum. Encephalocele is diagnosed from the calvarium defect, cerebrospinal fluid (CSF) and herniation of the meninges. It is the rarest neural tube defect. A 7 x 9 cm encephalocele was found on physical examination of a 6-day old baby boy patient. From cranial magnetic resonance, it was seen that the posterior fossa was enlarged with cysts and there was agenesis of the vermis. A connection was established between the ventricle and the development of cysts on the posterior fossa. These findings were evaluated as significant from the aspect of Dandy-Walker malformation. The extension of the bone defect in the left occipital area towards the posterior, and the cranio-caudal diameter reaching 9 cm was seen to be in accordance with encephalocele. It is rare for Dandy-Walker syndrome to occur together with occipital encephalocele. The authors present a case of Dandy-Walker syndrome together with occipital encephalocele.

A case of melanocytic cervical adenosquamous carcinoma complicated with Cushing's syndrome.

PubMed

Chen, Y; Zhang, Y; Wang, L; Yang, X

2017-01-01

To date, cervical carcinoma complicated with Cushing's syndrome were all diagnosed as small cell carcinoma histo- logically, but not adenosquamous carcinoma. Here the authors present the diagnosis, management, and prognosis of a case of melanocytic cervical adenosquamous carcinoma complicated with Cushing's syndrome. A 28-year-old woman was admitted with the chief complaint of post-coital bleeding for one month. Gynecological examination revealed a nodular yellowish-pigmented vegetation (6x5 cm) on the cervix. Laboratory findings proved the diagnosis of Cushing's syndrome. Histopathological diagnosis showed the adenosquamous carcinoma with melanoma differentiation. Immunohistochemical stainings for melanoma A and anti- adrenocorticotropic hormone (ACTH) were positive in the majority of the tumor cells, which indicated that this melanocytic cervical carcinoma lesion was the source of ectopic ACTH production resulting in Cushing's syndrome. This is a unique case of a rare type of cervical carcinoma.

Axenfeld-Rieger syndrome (ARS): A review and case report.

PubMed

Waldron, Jennie M; McNamara, Clare; Hewson, Antonia R; McNamara, C M

2010-01-01

Axenfeld-Rieger syndrome (ARS) is a rare, autosomal dominant condition characterized by ocular, craniofacial, dental, and periumbilical abnormalities. Relatively little information exists on this syndrome within the dental literature despite the fact that midface hypoplasia and maxillary hypodontia are classical presenting features of this syndrome. This is a case report of a 7-year-old Caucasian female with ARS who presented with significant ocular and dental anomalies. She was also found to have osteopenia. Her dental condition is described, her immediate treatment is shown, and her long-term treatment needs are discussed. ©2010 Special Care Dentistry Association and Wiley Periodicals, Inc.

A case of refeeding syndrome in a marine recruit.

PubMed

Bunge, Paul D; Frank, Laura L

2013-04-01

Refeeding syndrome is an under-recognized complication of starvation. Presented is a 26-year-old Marine recruit who was found to have hypothermia, mental status changes, and rhabdomyolysis after purposeful weight loss with calorie restriction in conjunction with an arduous exercise program. With rest and food, the patient developed refeeding syndrome, with hypophosphatemia requiring prolonged intravenous replacement. His case is unique in illustrating both malnutrition and refeeding syndrome in someone who appeared to be healthy and was exercising strenuously up to the point of hospital admission. Reprint & Copyright © 2013 Association of Military Surgeons of the U.S.

[Wernicke-Korsakoff syndrome secondary to cytomegalovirus encephalitis: A case report].

PubMed

Uribe, Luis Guillermo; Pérez, María Alejandra; Lara, Camilo Andrés; Rueda, Natalia; Hernández, Javier Augusto

2017-12-01

Cytomegalovirus (CMV) is one of the opportunistic microorganisms with the highest prevalence in immunocompromised patients. Reactivation has decreased after the introduction of highly active antiretroviral therapy (HAART). Encephalitis has been reported in the coinfection as one of the most frequent presentations.We present the case of a young adult patient with HIV infection and rapid neurological deterioration due to classic clinical symptoms and signs of the Wernicke-Korsakoff syndrome, with no risk factors for thiamine deficiency, with images by nuclear magnetic resonance typical of the syndrome, and identification of cytomegalovirus in cerebrospinal fluid. The specific treatment for CMV managed to control the symptoms with neurological sequelae in progression towards improvement.This is one of the few cases reported in the literature of Wernicke syndrome secondary to cytomegalovirus encephalitis.

'Dodo' and 'Baby Bear' Trenches

NASA Technical Reports Server (NTRS)

2008-01-01

NASA's Phoenix Mars Lander's Surface Stereo Imager took this image on Sol 11 (June 5, 2008), the eleventh day after landing. It shows the trenches dug by Phoenix's Robotic Arm. The trench on the left is informally called 'Dodo' and was dug as a test. The trench on the right is informally called 'Baby Bear.' The sample dug from Baby Bear will be delivered to the Phoenix's Thermal and Evolved-Gas Analyzer, or TEGA. The Baby Bear trench is 9 centimeters (3.1 inches) wide and 4 centimeters (1.6 inches) deep.

The Phoenix Mission is led by the University of Arizona, Tucson, on behalf of NASA. Project management of the mission is by NASA's Jet Propulsion Laboratory, Pasadena, Calif. Spacecraft development is by Lockheed Martin Space Systems, Denver.

How mothers keep their babies warm.

PubMed Central

Bacon, C J; Bell, S A; Clulow, E E; Beattie, A B

1991-01-01

Details of room temperature, clothing, and bedding used by night and by day and in winter and in summer were recorded for 649 babies aged 8 to 26 weeks. Room temperature at night was significantly related to outside temperature and duration of heating. Total insulation was significantly related to outside temperature and to minimum room temperature, but there was wide variation in insulation at the same room temperature. High levels of insulation for a given room temperature were found particularly at night and in winter, and were associated with the use of thick or doubled duvets and with swaddling. At least half the babies threw off some or all of their bedding at night, and at least a quarter sweated. Younger mothers and mothers in the lower social groups put more bedclothes over their babies, and the latter also kept their rooms warmer. Many mothers kept their babies warmer during infections. PMID:2039255

The baby boom, the baby bust, and the housing market.

PubMed

Mankiw, N G; Weil, D N

1989-05-01

This paper explores the impact of demographic changes on the housing market in the US, 1st by reviewing the facts about the Baby Boom, 2nd by linking age and housing demand using census data for 1970 and 1980, 3rd by computing the effect of demand on price of housing and on the quantity of residential capital, and last by constructing a theoretical model to plot the predictability of the jump in demand caused by the Baby Boom. The Baby Boom in the U.S. lasted from 1946-1964, with a peak in 1957 when 4.3 million babies were born. In 1980 19.7% of the population were aged 20-30, compared to 13.3% in 1960. Demand for housing was modeled for a given household from census data, resulting in the finding that demand rises sharply at age 20-30, then declines after age 40 by 1% per year. Thus between 1970 and 1980 the real value of housing for an adult at any given age jumped 50%, while the real disposable personal income per capita rose 22%. The structure of demand is such that the swelling in the rate of growth in housing demand peaked in 1980, with a rate of 1.66% per year. Housing demand and real price of housing were highly correlated and inelastic. If this relationship holds in the future, the real price of housing should fall about 3% per year, or 47% by 2007. The theoretical model, a variation of the Poterba model, ignoring inflation and taxation, suggests that fluctuations in prices caused by changes in demand are not foreseen by the market, even though they are predictable in principle 20 years in advance. As the effects of falling housing prices become apparent, there may be a potential for economic instability, but people may be induced to save more because their homes will no longer provide the funds for retirement.

Pregnancy following laparoscopic ovarian drilling for clomiphene resistant polycystic ovarian syndrome.

PubMed

Ikechebelu, J I; Mbamara, S U; Okeke, C A F

2010-06-01

We present a case of a 29 year old nulliparous woman with clomiphene resistance polycystic ovarian syndrome. She had a successful laparoscopic ovarian drilling (LOD) in a private fertility centre in Nnewi Southeast Nigeria. She achieved a pregnancy four months later following clomiphene citrate ovulation induction. The pregnancy was complicated with 1st trimester threatened abortion, pre-term PROM and later pre-term labour at 34 weeks gestation with breech presentation. She had a successful caesarean delivery of a 1.75 kg life female baby that was nursed in the incubator for 2 weeks before discharge. This is the first reported successful LOD in Southeast Nigeria with good pregnancy outcome.

Laugier-Hunziker syndrome: A case report.

PubMed

Wei, Z; Li, G-Y; Ruan, H-H; Zhang, L; Wang, W-M; Wang, X

2018-04-01

Laugier-Hunziker syndrome (LHS) is a rare, benign, acquired pigmentary condition mainly affecting lips, oral mucosa and acral area, frequently associated with longitudinal melanonychia. Herein, we reported a 45-year-old female case with LHS. The clinical, dermoscopic, histopathologic features of LHS were reviewed and the important differential diagnosis was discussed. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Fathers & Babies: How Babies Grow and What They Need from You, from Birth to 18 Months.

ERIC Educational Resources Information Center

Marzollo, Jean

This book provides fathers with specific developmental theory and practical skills and advice concerning how babies grow and what they need from fathers from the time they are born until they turn 18 months. Each chapter provides information and theory on age appropriate play activities and specific information on a baby's growth and developmental…

Gestational Diabetes Insipidus Associated with HELLP Syndrome: A Case Report

PubMed Central

Gambito, Renela; Chan, Michael; Sheta, Mohamed; Ramirez-Arao, Precious; Gurm, Harmeet; Tunkel, Allan; Nivera, Noel

2012-01-01

Gestational diabetes insipidus is a rare, but well recognized, complication of pregnancy. It is related to excess vasopressinase enzyme activity which is metabolized in the liver. A high index of suspicion of gestational diabetes insipidus is required in a correct clinical setting especially in the presence of other risk factors such as preeclampsia, HELLP syndrome, and twin pregnancies. We are presenting a case of gestational diabetes insipidus in a patient with HELLP syndrome. The newborn in this case also had hypernatremia thereby raising possibilities of vasopressinase crossing the placenta. PMID:24555139

A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.

PubMed

Jivani, Nurin; Torrado-Jule, Carmen; Vaiselbuh, Sarah; Romanos-Sirakis, Eleny

2016-11-01

Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.

A case of the corpus callosum and alien hand syndrome from a discrete paracallosal lesion.

PubMed

Faber, Raymond; Azad, Alvi; Reinsvold, Richard

2010-08-01

Here we present a patient with an isolated paracallosal brain lesion who exhibited behavioral changes associated with the corpus callosum syndrome (CCS) including features of the alien hand syndrome (AHS). The CCS is also known as the split-brain syndrome, the syndrome of hemisphere disconnection, the syndrome of brain bisection and the syndrome of the cerebral commissures. Because most reported cases of CCS were caused by tumors which extended beyond the corpus callosum (CC) and did not always induce a complete disconnection, there was much controversy about the role of the CC and the existence of a specific CCS. Aside from surgically based cases, the full complement of the CCS is infrequently clinically encountered. The patient described has a classic CCS from natural causes. This case report is unique in exhibiting a complete CCS with AHS secondary to an ischemic event affecting the left pericallosal region. To our knowledge this is the first case report of such a combination.

Anesthetic management of Shah–Waardenburg syndrome: Experience of two cases and review of literature

PubMed Central

Ambi, Uday S.; Adarsh, E. S.; Hatti, Ramesh; Samalad, Vijaymahantesh

2012-01-01

Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development. Literature regarding the anesthetic management of these cases is limited. We present 2 cases of Shah–Waardenburg syndrome and discuss them in the context of review of previously published cases. PMID:22754447

A Case of Churg-Strauss Syndrome Associated with Antiphospholipid Antibodies

PubMed Central

Ferenczi, Katalin; Chang, Timothy; Camouse, Melissa; Han, Rujing; Stern, Robert; Willis, Joseph; Cooper, Kevin D.; Gilliam, Anita C.

2008-01-01

BACKGROUND Churg-Strauss syndrome (CSS) is a systemic vasculitis affecting small and medium-sized blood vessels, almost invariably affecting the lung and frequently associated with cutaneous involvement. Microvascular vaso-occlusion leading to digital gangrene is not a feature of CSS. OBSERVATIONS We report an unusual case of a patient with Churg Strauss Syndrome with antiphospholipid antibodies who developed severe digital gangrene in addition to cutaneous vasculitis. CONCLUSION The presence of antiphospholipid antibodies is not a feature usually seen in association with Churg-Strauss syndrome. While the full clinical spectrum of Churg Strauss Syndrome is still being defined, identification of additional features associated with this syndrome might help to better understand the pathogenesis of the disease and to have an impact on management and prognosis. PMID:17175066

A Case of Loeffler's Endocarditis Associated with Churg-Strauss Syndrome

PubMed Central

Seo, Jeong-Sook; Kim, Dae-Hee; Kang, Duk-Hyun; Song, Jae-Kwan

2010-01-01

Loeffler's endocarditis is generally caused by hypereosinophilic syndrome. It is a restrictive cardiomyopathy characterized with eosinophilia and eosionophilic penetration leading to the fibrous thickening of endocardium of both ventricles, apical obliteration and heart failure. We report a case of a 23-year-old male with Loeffler's endocarditis caused by Churg-Strauss syndrome. The echocardiogram showed that biventricular failure with large thrombus in left ventricle. His symptoms and typical echocardiographic findings markedly improved within 2 months after treatment for Churg-Strauss syndrome. PMID:20661332

The Interactions between Breastfeeding Mothers and Their Babies during the Breastfeeding Session.

ERIC Educational Resources Information Center

Epstein, Karen

1993-01-01

Videotaped 12 breastfeeding mothers and their babies during breastfeeding sessions to investigate maternal-infant interactions occurring during breastfeeding sessions. Presents four case studies to examine differences in breastfeeding interactions, as well as benefits and disadvantages that breastfeeding provided different mother-child pairs. (MM)

Infant & Toddlers: How to Calm an Exuberant Baby

ERIC Educational Resources Information Center

Honig, Alice Sterling

2006-01-01

It is important to understand that babies differ in temperament. Some are sensationally exuberant and loud. Others are more withdrawn and quiet. Babies also differ in tempo and style. Some eat with gusto. Others deliberately scoop a bit of cooked cereal onto a spoon and slowly munch on their food. Helping a baby learn to modulate voice tones means…

Fetal urine biochemistry in antenatal Bartter syndrome: a case report.

PubMed

Rachid, Myriam L; Dreux, Sophie; Czerkiewicz, Isabelle; Deschênes, Georges; Vargas-Poussou, Rosa; Mahieu-Caputo, Dominique; Oury, Jean-François; Muller, Françoise

2016-09-01

Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.

The status of anencephalic babies: should their bodies be used as donor banks?

PubMed Central

Davis, A

1988-01-01

In recent months there has been considerable discussion on the ethics of using organs from anencephalic babies for transplantation purposes. The heart of an anencephalic in Ireland was so used, but the recipient died very soon after the operation. Since this case came to light the Royal College of Physicians has imposed a ban on the use of these babies as donors while a working party investigates the issues involved.* This article attempts to examine the problem and reaches the conclusion that in practice it is not ethical to use the organs of anencephalics for transplants. PMID:3184137

'Dermatologically tested' baby toilet tissues: a cause of allergic contact dermatitis in adults.

PubMed

Timmermans, An; De Hertog, Sofie; Gladys, Krzysztofa; Vanacker, Hilde; Goossens, An

2007-08-01

We describe 4 adults with an allergic contact dermatitis for moist baby toilet tissues, being used either for their personal hygiene or for their babies (children). The allergen proved to be the preservative mixture of methylchloroisothiazolinone and methylisothiazolinone (MCI/MI). Allergic contact dermatitis from moist toilet paper has been infrequently reported but is probably not rare. The cases we describe here have been observed over a short period of 6 months. The question arises if the use of MCI/MI as a preservative, still often used in leave-on products, should not be abandoned from cosmetics.

Painful legs and moving toes syndrome: a 76-patient case series.

PubMed

Hassan, Anhar; Mateen, Farrah J; Coon, Elizabeth A; Ahlskog, J Eric

2012-08-01

To better characterize the clinical features, electrophysiologic features, and treatment outcomes of painful legs and moving toes (PLMT) syndrome. Large case series. Neurology outpatient clinic at a tertiary referral center, 1983-2011. All cases of PLMT seen at our institution during an 18-year period were identified using our medical record linkage system. Key demographic, clinical, imaging, and electrophysiologic features of PLMT. Treatment outcomes and long-term follow-up are also reported. Of 76 cases identified (including 50 women [66%]), the mean age at onset was 58 years (range, 24-86 years) and at neurologic evaluation was 63 years (range, 26-88 years). Pure lower limb involvement was most common (69 patients [91%]), and 44 cases (58%) were bilateral. The most frequently diagnosed causes were peripheral neuropathy (21 cases [28%]), previous trauma (8 [11%]), and radiculopathy (7 [9%]); 32 cases (42%) were cryptogenic. Electromyography consistently showed irregular 50-millisecond to 1-second bursts of normal motor unit potential firing at 2 to 200 Hz accompanying the movements. Pain occurred first in nearly all cases and was more distressing to patients than the movements. Both components were difficult to treat, with no consistent benefit from a variety of drugs and therapeutic modalities. The syndrome persisted in most patients (83%) during the mean follow-up of 4.6 years, suggesting low likelihood of spontaneous resolution. Painful legs and moving toes syndrome is a debilitating clinical syndrome, not because of the movements but rather because of the pain, which often is refractory to treatment. Segmental lower limb involvement is most common, and neurophysiologic findings support a pathophysiologic process localizing to a central generator at the spinal cord or brainstem level.

America's Demography in the New Century: Aging Baby Boomers and New Immigrants as Major Players. Milken Institute Policy Brief.

ERIC Educational Resources Information Center

Frey, William H.; DeVol, Ross C.

America's demography in the new century will be affected by the aging baby boom generation and by new immigrants. Focus on just the national implications of aging baby boomers and the new immigrants is inadequate. This policy brief takes a regional perspective, examining recent trends and population statistics and making the case that aging baby…

Management of CHAOS by intact cord resuscitation: case report and literature review.

PubMed

Kumar, Manisha; Gupta, Amit; Kumar, Vijay; Handa, Anu; Balliyan, Mayura; Meena, Jyoti; Roychoudhary, Shubhasis

2018-06-12

Congenital high airway obstruction syndrome (CHAOS) is a near fatal condition, except when the ex utero intrapartum treatment (EXIT) procedure is performed as rescue. After antenatal diagnosis of the condition, counseling regarding prognosis and outcome needs to be provided. We describe here a case with CHAOS due to isolated fetal laryngeal atresia, presented at our center at 33-week gestation. After counseling regarding the uncertain outcome, consent for elective caesarean was not given. Intact cord resuscitation (ICR) was done as a rescue by a well-coordinated team during delivery. Tracheostomy was performed successfully under local anesthesia within five minutes, while the cord was still attached to the placenta. The baby had supraglottic stenosis on CT scan. Reconstructive surgery is planned after 8 months. The literature review showed 24 reports of 28 cases with intrinsic airway obstruction managed by EXIT, laryngeal atresia was the most common cause (18/28). The outcome was poor in tracheal agenesis (1/4 survived) whereas those having laryngeal web or small communication (4/4 survived) had better outcome. Tracheal reconstruction was done in 3/28 cases only. The case emphasizes that ICR and tracheostomy during vaginal delivery can rescue the baby. The literature reviewed provided insight into the outcome of CHAOS cases in world literature.

Anesthetic management of an obstetric patient with MELAS syndrome: case report and literature review.

PubMed

Maurtua, M; Torres, A; Ibarra, V; DeBoer, G; Dolak, J

2008-10-01

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) is a mitochondrial disorder associated with neurologic, cardiac, neuromuscular, hepatic, metabolic and gastrointestinal dysfunction and potential anesthetic and obstetric complications. The case of a parturient with MELAS syndrome requiring labor analgesia is presented. A Medline literature search limited to the English language was undertaken to review cases of MELAS syndrome. Based on our experience and literature review, parturients with MELAS syndrome appear to benefit from neuraxial analgesia and anesthesia, which blunt excessive oxygen consumption and acidosis.

75 FR 43107 - Revocation of Requirements for Full-Size Baby Cribs and Non-Full-Size Baby Cribs

Federal Register 2010, 2011, 2012, 2013, 2014

2010-07-23

... Improvement Act of 2008 (``CPSIA'') requires the United States Consumer Product Safety Commission (``CPSC'' or... CONSUMER PRODUCT SAFETY COMMISSION 16 CFR Parts 1508 and 1509 [CPSC Docket No. CPSC-2010-0075] Revocation of Requirements for Full-Size Baby Cribs and Non-Full- Size Baby Cribs AGENCY: Consumer Product...

[Use of bevacizumab (Avastin) in KID syndrome: case report].

PubMed

Caye, Luiza; Scheid, Karin; Pizzol, Melissa Manfroi Dal; Freda, Roberto

2010-01-01

KID syndrome is a congenital ectodermal dysplasia characterized by the association of keratitis, hyperkeratotic skin lesions and neurosensorial hearing loss. Ocular involvement occurs in 95% of patients. Although KID syndrome cutaneous manifestations have been studied in-depth, the treatment and prognosis of ophthalmic impairment have not been described in detail. At present, the treatment of the ocular damage caused by the syndrome is symptomatic and there are no studies defining a treatment that could change the disease course. In this case, ophthalmologic findings of a patient with KID syndrome and the use of subconjunctival bevacizumab to treat corneal neovascularization are described. In spite of the absence of improvement in this patient and the few reports of this disease, additional studies with bevacizumab to treat corneal deep neovascularization are suggested.

Fat embolism syndrome following percutaneous vertebroplasty: a case report.

PubMed

Ahmadzai, Hasib; Campbell, Scott; Archis, Constantine; Clark, William A

2014-04-01

Vertebroplasty is commonly performed for management of pain associated with vertebral compression fractures. There have been two previous reports of fatal fat embolism following vertebroplasty. Here we describe a case of fat embolism syndrome following this procedure, and also provide fluoroscopic video evidence consistent with this occurrence. The purpose of this study was to review the literature and report a case of fat embolism syndrome in a patient who underwent percutaneous vertebroplasty for compression fracture. The study design for this manuscript was of a clinical case report. A 68-year-old woman who developed sudden back pain with minimal trauma was found to have a T6 vertebral compression fracture on radiographs and bone scans. Percutaneous vertebroplasty of T5 and T6 was performed. Fluoroscopic imaging during the procedure demonstrated compression and rarefaction of the fractured vertebra associated with changes in intrathoracic pressure. Immediately after the procedure, the patient's back pain resolved and she was discharged home. Two days later, she developed increasing respiratory distress, confusion, and chest pain. A petechial rash on her upper arms also appeared. No evidence of bone cement leakage or pulmonary filling defects were seen on computed tomography-pulmonary angiography. Brain magnetic resonance imaging demonstrated hyperintensities in the periventricular and subcortical white matter on T2/fluid-attenuated inversion recovery sequences. A diagnosis of fat embolism syndrome was made, and the patient recovered with conservative management. Percutaneous vertebroplasty is a relatively safe and simple procedure, reducing pain and improving functional limitations in patients with vertebral fractures. This case demonstrates an uncommon yet serious complication of fat embolism syndrome. Clinicians must be aware of this complication when explaining the procedure to patients and provide prompt supportive care when it does occur. Copyright © 2014

Bilateral silent sinus syndrome: A rare case and review of literature.

PubMed

Trope, Michal; Schwartz, Joseph S; Tajudeen, Bobby A; Kennedy, David W

2017-06-01

In this report, we presented a rare case of bilateral silent sinus syndrome (SSS) in an otherwise healthy 57-year-old man treated with functional endoscopic sinus surgery (FESS). A systematic review of the literature regarding bilateral SSS was performed. A 57-year-old man with well-controlled allergic rhinitis in the absence of previous surgery or trauma presented with bilateral SSS, which was successfully managed with bilateral FESS. A medical literature data base search of the terms "silent sinus syndrome" "maxillary atelectasis," "imploding antrum syndrome," and "bilateral silent sinus syndrome" was performed. The results were then narrowed to include only relevant articles. Relevant articles included three case reports and two articles that describe or mention bilateral SSS. Of the three case reports found, two patients presented with bilateral SSS, whereas the third patient presented metachronously, with the contralateral SSS manifesting 4 months after presentation of the initial ipsilateral SSS. The present literature regarding bilateral SSS is likely incomplete, and further investigation is required to provide greater insight into the prevalence of this disease. In this report, bilateral FESS was successful in resolving symptoms and preventing disease progression.

Feeding Tips For Your Baby with CHD

MedlinePlus

... best when fed more often and on a demand schedule. They tend to tire quickly during the ... with a combination of breast- and bottle-feeding. Breast-Feeding Your Baby If your baby is diagnosed with ...

[Fournier syndrome: report of a clinical case].

PubMed

La Torre, F; Otti, M; Ruggeri, E; Taglienti, D; Bonanno, L; Bianchini, G P; Veneroso, S; Tintisona, O; Monti, M

2001-01-01

The case of a Fournier's syndrome in a 58 years old patient is reported from the Authors that describe the ethiopathogenetic and therapeutic aspects. They analyse the importance of an early surgical treatment associated with antibiotic therapy and later a riparation of the lesions with a myocutaneous skin flap of TLF.

[Nevoid basal-cell carcinoma syndrome (Gorlin Syndrome): report of two cases and review of the literature].

PubMed

Castro-Mujica, María Del Carmen; Barletta-Carrillo, Claudia; Poterico, Julio A; Acosta, Marisa; Valer, Jesús; Cruz, Miguel De La

2017-01-01

Gorlin syndrome (GS) is a genetic disorder with an autosomal dominant inheritance pattern, with complete penetrance and variable expressivity. GS is caused by germline mutations in the genes PTCH1 or SUFU, which are components of the Sonic hedgehog molecular pathway. GS is characterized by the presence of multiple nevoid basal cell carcinomas, odontogenic cysts, calcification of the brain sickle, and lesions in the palms and soles. This study is the first to report cases in Peru of patients with GS who underwent genetic evaluation and counseling. We present two GS cases that meet the clinical criteria for the syndrome and review the literature.

3-M syndrome: a report of three Egyptian cases with review of the literature.

PubMed

Temtamy, Samia A; Aglan, Mona S; Ashour, Adel M; Ramzy, Magda I; Hosny, Laila A; Mostafa, Mostafa I

2006-04-01

The 3-M syndrome is a rare autosomal recessive disorder. It is characterized by prenatal and postnatal growth retardation associated with characteristic features. In this study, we report on three patients from two unrelated families, including two male sibs, with the characteristic features and radiological findings of the 3-M syndrome. The main features in our cases were low birth weight, short stature, malar hypoplasia, anteverted nostrils with a fleshy nasal tip, long philtrum, pointed full chin, short broad neck, broad chest with transverse grooves of anterior thorax and hyperlordosis. An orodental examination revealed characteristic findings, some of which were not reported before. Prominent premaxilla, hypoplastic maxilla, thick patulous lips, high-arched palate, median fissured tongue, delayed eruption of teeth with enamel hypocalcification and malocclusion were present in our three studied cases. Radiographic studies showed slender long bones and ribs, a narrow pelvis and foreshortened vertebral bodies. Our reported cases are the offspring of healthy consanguineous parents, confirming the autosomal recessive pattern of inheritance in the syndrome. Cases were reported from different countries all over the world. To our knowledge, these are the first reported Egyptian patients with this rare disorder. This syndrome may be underreported because of the phenotypic overlap with other low birth dwarfism syndromes. Recent identification of a gene mutated in some cases of 3-M syndrome will aid diagnosis.

Pediatric Lassa fever: a review of 33 Liberian cases.

PubMed

Monson, M H; Cole, A K; Frame, J D; Serwint, J R; Alexander, S; Jahrling, P B

1987-03-01

Thirty-three cases of pediatric Lassa fever were identified at Curran Lutheran Hospital and Phebe Hospital in Liberia between January 1980 and March 1984. All 18 fetal cases died and the case-fatality rate for 15 childhood cases was 27%. We identified four clinical presentations according to age, including a case of congenital Lassa fever, a condition not reported previously. Two cases of Lassa fever were found serologically during a one-month survey of all pediatric admissions at Curran Lutheran Hospital, 2.4% of those children who had serum pairs collected. We also identified a "swollen baby syndrome" consisting of widespread edema, abdominal distention, and bleeding. This distinctive clinical presentation of Lassa fever ended in death in three of four cases and was present in three of the four childhood deaths in this series. Its absence seems to be a good prognostic indicator in children.

The Aging Baby Boom: Implications for Employment and Training Programs.

ERIC Educational Resources Information Center

Poulos, Stacy; Nightingale, Demetra Smith

By the end of 2005, the oldest baby boomers will begin turning 60. Although baby boomers have generally done better than any previous generation in terms of income and education, not all baby boomers have been successful. As baby boomers age, the total economically disadvantaged population will increase. Consequently, over the next decade, the…

Breastfeeding FAQs: Sleep - Yours and Your Baby's

MedlinePlus

... Staying Safe Videos for Educators Search English Español Breastfeeding FAQs: Sleep - Yours and Your Baby's KidsHealth / For ... to sleep sooner. My baby falls asleep while nursing. What can I do? Newborns often fall asleep ...

Use of Hemadsorption in a Case of Pediatric Toxic Shock Syndrome.

PubMed

Berkes, Andrea; Szikszay, Edit; Kappelmayer, János; Kerényi, Adrienne; Szabó, Tamás; Ujhelyi, László; Bari, Krisztina; Balla, György; Balla, József

2017-01-01

Toxic shock syndrome is a potentially fatal toxin-mediated disease. The role of toxins in this clinical entity made us hypothesize that extracorporeal blood purification with CytoSorb® could play a beneficial role in the clinical management of toxic shock syndrome. This case report describes the successful treatment of toxic shock syndrome using a combination of renal replacement therapy and hemadsorption in a pediatric patient. A 5-year-old girl with Down's syndrome presented with an inflamed area surrounding an insect bite, signs of systemic inflammation, and multiple organ failure. As previous attempts of immune modulation therapy were unsuccessful, renal replacement therapy was supplemented by the cytokine absorber CytoSorb. Treatment using this combination was associated with a rapid and significant stabilization in the hemodynamic situation and a decrease in inflammatory mediators within hours after the initiation of therapy. The application of CytoSorb therapy was simple and safe. The use of extracorporeal blood purification with CytoSorb proved potentially beneficial by removing toxins and inflammatory mediators in this case and could therefore play a role in the clinical management of toxic shock syndrome. Whether CytoSorb has the potential to even positively influence mortality in patients with toxic shock syndrome still needs to be confirmed.

Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.

PubMed

Schell-Apacik, Chayim; Hardt, Michael; Ertl-Wagner, Birgit; Klopocki, Eva; Möhrenschlager, Matthias; Heinrich, Uwe; von Voss, Hubertus

2008-09-01

Alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome; OMIM 203550) is a very rare genetic disorder with distinct features. To our knowledge, there have been four cases documented to date. In addition, another three patients, previously described as having IFAP syndrome (OMIM %308205), may also have ACD syndrome. We report on one patient with short stature, total alopecia, ichthyosis, photophobia, seizures, ectrodactyly, vertebral anomalies, scoliosis, multiple contractures, mental retardation, and striking facial and other features (e.g. microdolichocephaly, missing eyebrows and eyelashes, long nose, large ears) consistent with ACD syndrome. Results of laboratory testing in the literature case reports were normal, although in none of them, array-CGH (microarray-based comparative genomic hybridization) analysis was performed. In conclusion, the combination of specific features, including total alopecia, ichthyosis, mental retardation, and skeletal anomalies are suggestive of ACD syndrome. We propose that children with this syndrome undergo a certain social pediatric protocol including EEG diagnostics, ophthalmological investigation, psychological testing, management of dermatologic and orthopedic problems, and genetic counseling.

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.

PubMed

Gervasini, Cristina; Grati, Francesca Romana; Lalatta, Faustina; Tabano, Silvia; Gentilin, Barbara; Colapietro, Patrizia; De Toffol, Simona; Frontino, Giada; Motta, Francesca; Maitz, Silvia; Bernardini, Laura; Dallapiccola, Bruno; Fedele, Luigi; Larizza, Lidia; Miozzo, Monica

2010-10-01

The Mayer-Rokitansky-Küster-Hauser syndrome is defined as congenital aplasia of müllerian ducts derived structures in females with a normal female chromosomal and gonadal sex. Most cases with Mayer-Rokitansky-Küster-Hauser syndrome are sporadic, although familial cases have been reported. The genetic basis of Mayer-Rokitansky-Küster-Hauser syndrome is largely unknown and seems heterogeneous, and a small number of cases were found to have mutations in the WNT4 gene. The aim of this study was to identify possible recurrent submicroscopic imbalances in a cohort of familial and sporadic cases with Mayer-Rokitansky-Küster-Hauser syndrome. Multiplex ligation-dependent probe amplification was used to screen the subtelomeric sequences of all chromosomes in 30 patients with Mayer-Rokitansky-Küster-Hauser syndrome (sporadic, n = 27 and familial, n = 3). Segregation analysis and pyrosequencing were applied to validate the MLPA results in the informative family. Partial duplication of the Xpter pseudoautosomal region 1 containing the short stature homeobox (SHOX) gene was detected in five patients with Mayer-Rokitansky-Küster-Hauser syndrome (familial, n = 3 and sporadic, n = 2) and not in 53 healthy controls. The duplications were not overlapping, and SHOX was never entirely duplicated. Haplotyping in the informative family revealed that SHOX gene duplication was inherited from the unaffected father and was absent in two healthy sisters. Partial duplication of SHOX gene is found in some cases with both familial and sporadic Mayer-Rokitansky-Küster-Hauser type I syndrome.

Apunipima baby basket program: a retrospective cost study.

PubMed

Edmunds, Kim; Searles, Andrew; Neville, Johanna; Ling, Rod; McCalman, Janya; Mein, Jacki

2016-11-03

The Baby Basket initiative was developed by Apunipima Cape York Health Council (ACYHC) to address poor maternal and child health (MCH) in Cape York, the northernmost region of Queensland. While positive outcomes for Indigenous MCH programs are reported in the literature, few studies have a strong evidence base or employ a sound methodological approach to evaluation. The aim of the cost study is to identify the resources required to deliver the Baby Basket program in the remote communities of Cape York. It represents an initial step in the economic evaluation of the Apunipima Baby Basket program. The aim of this study was to report whether the current program represents an effective use of scarce resources. The cost study was conducted from the perspective of the health providers and reflects the direct resources required to deliver the Baby Basket program to 170 women across 11 communities represented by ACYHC. A flow diagram informed by interviews with ACYHC staff, administrative documents and survey feedback was used to map the program pathway and measure resource use. Monetary values, in 2013 Australian dollars, were applied to the resources used to deliver the Baby Basket program for one year. The total cost of delivering the Baby Basket progam to 170 participants in Cape York was $148,642 or approximately, $874 per participant. The analysis allowed for the cost of providing the Baby Baskets to remote locations and the time for health workers to engage with women and thereby encourage a relationship with the health service. Routinely collected data showed improved engagement between expectant women and the health service during the life of the program. The Apunipima Baby Basket cost study identifies the resources required to deliver this program in remote communities of Cape York and provides a framework that will support prospective data collection of more specific outcome data, for future cost-effectiveness analyses and cost-benefit analyses. An investment of

Baby Galaxies in the Adult Universe

NASA Image and Video Library

2004-12-21

This artist's conception illustrates the decline in our universe's "birth-rate" over time. When the universe was young, massive galaxies were forming regularly, like baby bees in a bustling hive. In time, the universe bore fewer and fewer "offspring," and newborn galaxies (white circles) matured into older ones more like our own Milky Way (spirals). Previously, astronomers thought that the universe had ceased to give rise to massive, young galaxies, but findings from NASA's Galaxy Evolution Explorer suggest that may not be the case. Surveying thousands of nearby galaxies with its highly sensitive ultraviolet eyes, the telescope spotted three dozen that greatly resemble youthful galaxies from billions of years ago. In this illustration, those galaxies are represented as white circles on the right, or "today" side of the timeline. The discovery not only suggests that our universe may still be alive with youth, but also offers astronomers their first close-up look at what appear to be baby galaxies. Prior to the new result, astronomers had to peer about 11 billion light-years into the distant universe to see newborn galaxies. The newfound galaxies are only about 2 to 4 billion light-years away. http://photojournal.jpl.nasa.gov/catalog/PIA07142

Baby Galaxies in the Adult Universe

NASA Technical Reports Server (NTRS)

2004-01-01

[figure removed for brevity, see original site] Figure 1

This artist's conception illustrates the decline in our universe's 'birth-rate' over time. When the universe was young, massive galaxies were forming regularly, like baby bees in a bustling hive. In time, the universe bore fewer and fewer 'offspring,' and newborn galaxies (white circles) matured into older ones more like our own Milky Way (spirals).

Previously, astronomers thought that the universe had ceased to give rise to massive, young galaxies, but findings from NASA's Galaxy Evolution Explorer suggest that may not be the case. Surveying thousands of nearby galaxies with its highly sensitive ultraviolet eyes, the telescope spotted three dozen that greatly resemble youthful galaxies from billions of years ago. In this illustration, those galaxies are represented as white circles on the right, or 'today' side of the timeline.

The discovery not only suggests that our universe may still be alive with youth, but also offers astronomers their first close-up look at what appear to be baby galaxies. Prior to the new result, astronomers had to peer about 11 billion light-years into the distant universe to see newborn galaxies. The newfound galaxies are only about 2 to 4 billion light-years away.

Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.

PubMed

Benson, Matthew D; Ferreira, Patrick; MacDonald, Ian M

2017-01-01

Dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare mitochondrial condition associated with early onset cardiomyopathy and non-progressive ataxia. The cardiac manifestations may be progressive and often severe, resulting in significant morbidity and mortality. While optic nerve atrophy has been described in patients with DCMA, to our knowledge, there have been no reports of additional ocular phenotypes. We present two related Dariusleut Hutterite patients with documented DCMA syndrome and disorders of ocular motility: poor smooth pursuit and difficulty initiating saccadic eye movements and maintaining target fixation. We thus report the first cases of oculomotor apraxia in DCMA syndrome. By identifying these associated findings early in life, we hope to improve both the clinical diagnostic accuracy and timeliness of intervention in cases of DCMA.

Can Baby Hear?

MedlinePlus

... Current Issue Past Issues Special Section: Focus on Communication Can Baby Hear? Past Issues / Fall 2008 Table ... to the National Institute on Deafness and Other Communication Disorders (NIDCD). Prior to this, the average age ...

Flying with Baby

MedlinePlus

... comfort in knowing that the drone of the engines usually limits how far a crying baby can ... the tympanic membrane, or ear drum. Experiencing a difference in pressure across this membrane causes a sensation ...

Breastfeed Your Baby

MedlinePlus

... Basics: Health Benefits What are the benefits of breastfeeding? Breastfeeding gives you and your baby time to ... Basics: Common Questions If you are worried about breastfeeding, you aren't alone. It's normal to have ...

Naegeli-Franceschetti-Jadassohn syndrome: A rare case.

PubMed

Shah, Bela J; Jagati, Ashish K; Gupta, Neha P; Dhamale, Suyog S

2015-01-01

Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene. We report here a case of NFJS in a 27-year-old male who presented with reticulate hyperpigmentation over skin, dental changes, absence of dermatoglyphics, hypohidrosis, and hair changes.

[A new case of Rowell's syndrome].

PubMed

Schissler, C; Banea, S; Tortel, M-C; Mahé, A

2017-04-01

This article introduces a new case of Rowell's syndrome, a controversial entity defined by the association of lupus erythematosus and erythema multiforme. A 43-year-old woman was diagnosed with lupus erythematosus induced by esomeprazole. Because her eruption did not improve after withdrawal of the drug, hydroxychloroquine was administered. Two weeks later, the patient described new annular lesions on her chest and arms, both erosive and crusted, and some had a target-like appearance. The oral mucosa was also affected. Histology revealed sub-epidermal blistering with keratinocytic necrosis, strongly suggesting erythema multiforme. Screening for other causes of erythema multiforme proved negative. A positive outcome was achieved with corticosteroids and hydroxychloroquine. One year later, the patient was in complete remission for both lupus erythematosus and erythema multiforme. The association of lupus erythematosus and erythema multiforme first described in 1963 is known as Rowell's syndrome. While diagnostic criteria have been established in the literature, the reality of this entity is still contested. The annular lesions of subacute lupus erythematosus may be confused with the lesions of erythema multiforme. As suggested in the above section, other authors consider Rowell's syndrome to be a singular entity. Indeed, our patient developed lesions distinct from those initially suggesting subacute lupus erythematosus, in particular: the target-like aspect of the elementary lesions, mucosal involvement, a distinct histological aspect, and dissociated outcomes. Ultimately, the definition of Rowell's syndrome remains highly debated. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

7 CFR 319.56-48 - Conditions governing the entry of baby squash and baby courgettes from Zambia.

Code of Federal Regulations, 2010 CFR

2010-01-01

... Fruits and Vegetables § 319.56-48 Conditions governing the entry of baby squash and baby courgettes from... fly traps with an approved protein bait must be placed inside the greenhouses at a density of four... fly traps with an approved protein bait must be placed inside a buffer area 500 meters wide around the...

7 CFR 319.56-48 - Conditions governing the entry of baby squash and baby courgettes from Zambia.

Code of Federal Regulations, 2011 CFR

2011-01-01

... Fruits and Vegetables § 319.56-48 Conditions governing the entry of baby squash and baby courgettes from... fly traps with an approved protein bait must be placed inside the greenhouses at a density of four... fly traps with an approved protein bait must be placed inside a buffer area 500 meters wide around the...

[Mayer-Rokitansky-Küster-Hauser syndrome: two cases report].

PubMed

Ávila-Vergara, Marco Antonio; León-Álvarez, Damián Alfredo; López-Villegas, Miriam Nayeli; Quintero-Medrano, Samantha Melissa; Angulo-Bueno, Gladys Fabiola; Vadillo-Ortega, Felipe

2015-03-01

Agenesia of the Müllerian ducts is a low-frequency congenital disease but with devastating effects on women's reproductive health. In this paper we present two cases of women affected by Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). First case was a 17-year-old woman with aplasia of the upper vagina and absence of uterus. No other defects were found and was classified as type 1-MRKH. Second case was 18-year-old woman with absence of uterus, escoliosis and polycystic ovary syndrome, classified as type II-MRKH. Patients were seen at the Hospital with primary amenorrhea and fully developed secondary sexual characteristics. A clinical follow-up protocol, including the use of high-resolution image studies was used for diagnosis. Diagnostic procedures and current medical approaches to the treatment of MRKH are discussed, including psychological advisory, surgical procedures and new tissue-engineering techniques.

Mesenteric vein thrombosis associated with Klinefelters syndrome--a case report.

PubMed

Murray, F E

1988-01-01

A case of mesenteric vein thrombosis presenting as gastrointestinal hemorrhage in a patient with Klinefelter's syndrome is reported, an association not previously described. The diagnosis was made preoperatively and was confirmed by angiography. The patient underwent a small bowel resection and made an uneventful recovery. A possible association between Klinefelter's syndrome and a hypercoagulable state, previously suggested elsewhere, is emphasized.

Impact of an educational intervention on caregivers' beliefs about infant crying and knowledge of shaken baby syndrome.

PubMed

Bechtel, Kirsten; Le, Kim; Martin, Kimberly D; Shah, Niyati; Leventhal, John M; Colson, Eve

2011-01-01

Shaken baby syndrome (SBS) is the leading cause of traumatic infant death. We examined whether the message about not shaking an infant should be included in the newborn anticipatory guidance provided by pediatric residents. The aim of this study was to determine the impact of an educational intervention (Take 5 Safety Plan for Crying) delivered by pediatric residents at newborn hospital discharge on beliefs about infant crying and knowledge of SBS among caregivers of young infants being treated in an urban primary care center. Structured interviews were done in one convenience sample of caregivers before (historical control group) and in a second set of different caregivers after (intervention group) an educational intervention was implemented at hospital discharge. Logistic regression was used to calculate adjusted associations between the intervention and caregivers' beliefs/knowledge. One hundred ten caregivers were in the historical control group and 112 in the intervention group. The intervention group had more mothers and the infants were younger. Controlling for these differences, intervention group caregivers were more likely to state they would take a break if frustrated with infant crying (OR 3.10, 95% CI, 1.62-5.93), were more likely to state frustration caused infant shaking (OR 2.21, 95% CI, 1.20-4.20), and to state their knowledge of SBS was from hospital staff (OR 3.39, 95% CI, 1.61-4.20). This targeted postpartum intervention incorporated into newborn anticipatory guidance can influence caregivers' beliefs about infant crying and knowledge of SBS. Copyright © 2011 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

[Acute Stress and Broken Heart Syndrome. A Case Report].

PubMed

Vergel, Juliana; Tamayo-Orozco, Sebastián; Vallejo-Gómez, Andrés Felipe; Posada, María Teresa; Restrepo, Diana

Stress has been associated with an acute heart failure syndrome of important morbidity and mortality. Case report and non-systematic review of the relevant literature. A 65-year-old woman with a history of an untreated generalized anxiety disorder, whom after the violent death of her son presented with oppressive chest pain irradiated to neck and left superior extremity, lasting for more than 30minutes, initial clinical suspect suggests acute coronary syndrome. Tako-tsubo cardiomyopathy is characterized by a reversible left ventricular dysfunction and wall movement abnormalities, without any compromise of the coronary arteries, associated to high plasma levels of catecholamines which in most cases correlates with an acute stress of emotional or physical type. Tako-tsubo cardiomyopathy has to be considered by physicians among the differential diagnosis when facing a patient with suspected acute coronary syndrome, especially in post-menopausal women with a history of psychiatric comorbidities such as a generalized anxiety disorder. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Changes in Responsiveness to Babies during Adolescence.

ERIC Educational Resources Information Center

Feldman, S. Shirley; Nash, Sharon Churnin

1979-01-01

Interest in babies was assessed in 30 high school seniors and 32 college freshmen. Measures varied from passive perceptual responses to pictures, to behavioral reactions to a live baby in the presence and in the absence of an adult. (JMB)

Baby Bath Basics

MedlinePlus

... bit first. The American Academy of Pediatrics recommends sponge baths until the umbilical cord stump falls off — ... week or two. To give your baby a sponge bath, you'll need: A warm place with ...

Acral peeling skin syndrome in two East-African siblings: case report

PubMed Central

2012-01-01

Background Acral peeling skin syndrome is a rare autosomal recessive genodermatosis due to a missense mutation in transglutaminase 5. The skin peeling occurs at the separation of the stratum corneum from the stratum granulosum. Case presentation We present a case of two siblings who developed continuous peeling of the palms and soles from the first year of life. This peeling was more severe on the soles than palms and on younger sibling than elder sibling. Peeling is worsened by occlusion and sweating. Conclusions Sporadic cases of Acral Peeling Skin Syndrome occur in African population. There is variability in time of presentation and clinical severity even within families. PMID:22429841

A case of acute confusion: Cushing's syndrome presenting with primary hyperparathyroidism.

PubMed

Irvine, Esmee; Yap, Yew Wen; Purewal, Tej; Irvine, Esmee

2017-06-30

Cushing's syndrome is a rare disease. Cushing's syndrome presenting as acute psychosis is an exceptional occurrence. We present the case of a 37-year-old woman who was admitted with acute confusion associated with mild hypercalcaemia and was subsequently diagnosed with parathyroid and adrenal adenomas. Our hospital sees approximately 6000 endocrine patients per year, with an incidence of around four Cushing's cases annually. This is the first such case to occur in our hospital and one of few described in the literature. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Mycoplasmataceae Colonizations in Women With Urethral Pain Syndrome: A Case-Control Study.

PubMed

Kyndel, Anna; Elmér, Caroline; Källman, Owe; Altman, Daniel

2016-07-01

To determine if Mycoplasma genitalium, Ureaplasma urealyticum, and Ureaplasma parvum are more common in premenopausal women with urethral pain syndrome than in asymptomatic controls. We used a case-control study design to compare the prevalence of M. genitalium, U. urealyticum, and U. parvum using polymerase chain reaction (PCR) analysis in urine. Urethral pain syndrome was defined as localized urethral pain with or without accompanying lower urinary tract symptoms during the past month or longer and at least one negative urine culture. Among the 28 cases, 46% carried Ureaplasma species compared with 64% of the 92 controls overall (P = 0.09). There were no significant differences in the prevalence of U. parvum and U. urealyticum among controls than in patients with urethral pain syndrome (P = 0.35 and P = 0.33, respectively). Co-colonization with U. parvum and urealyticum was infrequent, and there was only one case of M. genitalium colonization, which occurred among the controls. The symptomatic profile of Ureaplasma carriers with urethral pain syndrome was heterogeneous with no clear pattern and did not differ significantly compared with patients negative for Ureaplasma. We found no evidence to support the notion that M. genitalium, U. parvum, and U. urealyticum are more prevalent in women with urethral pain syndrome than in women without lower urinary tract symptoms.

Like Father, Like Daughter-inherited cutis aplasia occurring in a family with Marfan syndrome: a case report.

PubMed

Islam, Yasmin Florence Khodeja; Williams, Charles A; Schoch, Jennifer Jane; Andrews, Israel David

2017-01-01

We present the case of a newborn with co-occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.

[Bowen's disease and squamous cell carcinoma in Haber's syndrome: two cases].

PubMed

Legoupil, D; Lemasson, G; Davaine, A-C; Misery, L

2007-01-01

Haber's syndrome is a rare form of autosomal dominant genodermatosis. Clinically, it is associated with rosaceiform dermatosis of the face that begins in childhood, and profuse keratotic lesions resembling seborrheic keratoses, seen predominantly on the trunk, the tops of the limbs and the scalp. We report two cases of Bowen's disease and cutaneous epidermoid carcinoma in Haber's syndrome patients. A 67 year-old woman with Haber's syndrome and with a familial history consulted for a budding lesion on the abdomen, histological examination of which confirmed epidermoid carcinoma. A 77 year-old woman presented a clinical picture consistent with Haber's syndrome, with three infiltrated erythematosquamous abdominal lesions. Histological examination of a biopsy sample confirmed the clinical diagnosis of Bowen's disease. The patient was successfully treated with imiquimod. These two cases appear to indicate the existence of an association between Haber's syndrome and the presence of cutaneous carcinomatous lesions. We propose the hypothesis of transformation of the keratoses seen in seborrheic keratosis. These lesions may be considered as pre-cancerous. Association with skin carcinomas requires regular monitoring of these patients. The use of imiquimod to treat lesions in patients with Bowen's disease resulted in complete cure.

Primary Sjögren's syndrome and pregnancy: A report of 18 cases.

PubMed

Demarchi, Julia; Papasidero, Silvia B; Klajn, Diana; Alba, Paula; Babini, Alejandra M; Durigan, Virginia; Gobbi, Carla; Raiti, Laura

2017-08-24

Primary Sjögren's syndrome (pSS) is a condition that predominantly affects women. Reports of pregnancy outcome in these patients are limited and contradictory. To describe pregnancy characteristics and outcomes and newborn morbidity in women with pSS. We included women with pSS who became pregnant after the onset of the symptoms of the disease. Clinical and serological characteristics, risk factors and previous maternal comorbidities are described. For each pregnancy in a woman with pSS, we recorded pregnancy course and outcome and newborn condition. We assessed 11 patients with 18 pregnancies after the onset of pSS symptoms. All of them presented FAN +; 10 anti-Ro / SSA + and 7 anti-La / SSB +. The mean age in years at the onset of symptoms was 24.9 (SD 6.9) and at the time of pregnancy was 30.3 (SD 5.4). Thirteen pregnancies happened before the diagnosis, reporting only one miscarriage. Two preterm births, 1 case of oligohydramnios, 2 of premature membrane rupture and 2 low birthweight babies were reported after the onset of pSS symptoms. There was 1 newborn with congenital atrioventricular block and another with neonatal cutaneous lupus. All the women with pregnancy complications (n=6) had anti-Ro/SSA antibodies. Almost half of the pregnancies assessed in women with pSS were associated with complications not attributable to factors other than the disease. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

Cerebral venous thrombosis and secondary polycythemia in a case of nephrotic syndrome.

PubMed

Nagaraju, Shankar Prasad; Bairy, Manohar; Attur, Ravindra Prabhu; Sambhaji, Charudutt Jayant

2016-03-01

Cerebral venous thrombosis (CVT) and polycythemia are considered as rare and life threatening complications of nephrotic syndrome. We report an unusual combination of both these complications in a case of nephrotic syndrome due to minimal change disease that was treated successfully. There was prompt and complete remission of nephrotic syndrome with steroid therapy, concurrent with complete resolution of polycythemia and CVT.

Cotard's syndrome: Two case reports and a brief review of literature.

PubMed

Grover, Sandeep; Aneja, Jitender; Mahajan, Sonali; Varma, Sannidhya

2014-11-01

Cotard's syndrome is a rare neuropsychiatric condition in which the patient denies existence of one's own body to the extent of delusions of immortality. One of the consequences of Cotard's syndrome is self-starvation because of negation of existence of self. Although Cotard's syndrome has been reported to be associated with various organic conditions and other forms of psychopathology, it is less often reported to be seen in patients with catatonia. In this report we present two cases of Cotard's syndrome, both of whom had associated self-starvation and nutritional deficiencies and one of whom had associated catatonia.

Cotard's syndrome: Two case reports and a brief review of literature

PubMed Central

Grover, Sandeep; Aneja, Jitender; Mahajan, Sonali; Varma, Sannidhya

2014-01-01

Cotard's syndrome is a rare neuropsychiatric condition in which the patient denies existence of one's own body to the extent of delusions of immortality. One of the consequences of Cotard's syndrome is self-starvation because of negation of existence of self. Although Cotard's syndrome has been reported to be associated with various organic conditions and other forms of psychopathology, it is less often reported to be seen in patients with catatonia. In this report we present two cases of Cotard's syndrome, both of whom had associated self-starvation and nutritional deficiencies and one of whom had associated catatonia. PMID:25540544

A Case of Peeling Skin Syndrome.

PubMed

Singhal, Anil K; Yadav, Devendra K; Soni, Bajrang; Arya, Savita

2017-01-01

Peeling skin syndrome is a very rare autosomal recessive disease characterized by widespread painless peeling of the skin in superficial sheets. Etiology is still unknown with an autosomal recessive inheritance. Less than 100 cases have been reported in the medical literature. We present a 32-year-old man having asymptomatic peeling of skin since birth. Sheets of skin were peeling from his neck, trunk, and extremities, following friction or rubbing especially if pre-soaked in water but sparing palm and soles. Histologically, there was epidermal separation at the level of stratum corneum, just above the stratum granulosum. This case is being presented due to its rarity.

A Case of Peeling Skin Syndrome

PubMed Central

Singhal, Anil K.; Yadav, Devendra K.; Soni, Bajrang; Arya, Savita

2017-01-01

Peeling skin syndrome is a very rare autosomal recessive disease characterized by widespread painless peeling of the skin in superficial sheets. Etiology is still unknown with an autosomal recessive inheritance. Less than 100 cases have been reported in the medical literature. We present a 32-year-old man having asymptomatic peeling of skin since birth. Sheets of skin were peeling from his neck, trunk, and extremities, following friction or rubbing especially if pre-soaked in water but sparing palm and soles. Histologically, there was epidermal separation at the level of stratum corneum, just above the stratum granulosum. This case is being presented due to its rarity. PMID:28584761

Cronkhite-Canada Syndrome (CCS)-A Rare Case Report.

PubMed

Chakrabarti, Subrata

2015-03-01

Cronkhite-Canada syndrome (CCS) is an extremely rare non-inherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, weight loss and diarrhoea. The aetiology is probably autoimmune and diagnosis is based on history, physical examination, endoscopic findings of gastrointestinal polyposis, and histology. The disease is very rare; approximately 450 cases of CCS have been reported worldwide. The author reports a case of CCS in an elderly Indian male.

A particular case of deafness-oligodontia syndrome.

PubMed

Marlin, S; Denoyelle, F; Busquet, D; Garabedian, N; Petit, C

1998-06-01

Two previous case reports described two sibs affected with both sensorineural hearing loss and oligodontia. Here, we report a similar syndrome in a male patient with an, as yet, undescribed vestibular aqueduct enlargement on tomodensitometry. The analysis of the parent's audiograms is consistent with the suggested autosomal recessive mode of inheritance of this disorder.

Naegeli–Franceschetti–Jadassohn syndrome: A rare case

PubMed Central

Shah, Bela J.; Jagati, Ashish K.; Gupta, Neha P.; Dhamale, Suyog S.

2015-01-01

Naegeli–Franceschetti–Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene. We report here a case of NFJS in a 27-year-old male who presented with reticulate hyperpigmentation over skin, dental changes, absence of dermatoglyphics, hypohidrosis, and hair changes. PMID:26753140

Mindful with Your Baby: Feasibility, Acceptability, and Effects of a Mindful Parenting Group Training for Mothers and Their Babies in a Mental Health Context.

PubMed

Potharst, Eva S; Aktar, Evin; Rexwinkel, Marja; Rigterink, Margo; Bögels, Susan M

2017-01-01

Many mothers experience difficulties after the birth of a baby. Mindful parenting may have benefits for mothers and babies, because it can help mothers regulate stress, and be more attentive towards themselves and their babies, which may have positive effects on their responsivity. This study examined the effectiveness of Mindful with your baby , an 8-week mindful parenting group training for mothers with their babies. The presence of the babies provides on-the-spot practicing opportunities and facilitates generalization of what is learned. Forty-four mothers with their babies (0-18 months), who were referred to a mental health clinic because of elevated stress or mental health problems of the mother, infant (regulation) problems, or mother-infant interaction problems, participated in 10 groups, each comprising of three to six mother-baby dyads. Questionnaires were administered at pretest, posttest, 8-week follow-up, and 1-year follow-up. Dropout rate was 7%. At posttest, 8-week follow-up, and 1-year follow-up, a significant improvement was seen in mindfulness, self-compassion, mindful parenting, (medium to large effects), as well as in well-being, psychopathology, parental confidence, responsivity, and hostility (small to large effects). Parental stress and parental affection only improved at the first and second follow-ups, respectively (small to medium effects), and maternal attention and rejection did not change. The infants improved in their positive affectivity (medium effect) but not in other aspects of their temperament. Mindful with your baby is a promising intervention for mothers with babies who are referred to mental health care because of elevated stress or mental health problems, infant (regulation) problems, or mother-infant interaction problems.

Anticholinergic Toxic Syndrome Caused by Atropa Belladonna Fruit (Deadly Nightshade): A Case Report

PubMed Central

Demirhan, Abdullah; Tekelioğlu, Ümit Yaşar; Yıldız, İsa; Korkmaz, Tanzer; Bilgi, Murat; Akkaya, Akcan; Koçoğlu, Hasan

2013-01-01

Atropa Belladonna poisoning may lead to anticholinergic syndrome. Ingestion of high amounts of the plant may cause lethargy, coma, and even a serious clinical picture leading to death. In this case report, we aimed to present a case with anticholinergic syndrome that developed after ingestion of the fruit called “Deadly Nightshade” in our country. PMID:27366377

Effects of baby-friendly hospital initiative on breast-feeding practices in sindh.

PubMed

Khan, Mahjabeen; Akram, Durre Samin

2013-06-01

To determine changes in the breastfeeding practices of mothers after receiving counseling on 'Ten Steps to Successful Breastfeeding' as defined by the Baby Friendly Hospital Initiative comparing baby friendly hospitals (BFHs) and non-baby-friendly hospitals in Sindh, Pakistan. The observational study was conducted from June 2007 to June 2009 in randomly selected baby-friendly and non-baby-friendly hospitals of Sindh, Pakistan. Non-probability purposive sampling was employed.The maternity staff was trained on 'Ten Steps to Successful Breastfeeding.'The changes in breastfeeding practices were analysed by SPSS version 15. A total of 236 women were included in the study. Of them, 196 (83.05%) were from baby-friendly hospitals and 40 (16.94%) from non-baby-friendly hospitals. Besides, 174 (88.7%) mothers in baby-friendly hospitals and 5 (12.5%) in non-baby-friendly hospitals during antenatal care received counseling by healthcare providers.There was an increase in breastfeeding practice up to 194 (98.97%) in the first category compared to 12 (30%) in the other category. Counseling under the Baby Friendly Hospital Initiative improved breastfeeding practices up to 98.97% in baby-friendly compared to non-baby-friendly hospitals.

Depression and Dementia in Aging Adults with Down Syndrome: A Case Study Approach.

ERIC Educational Resources Information Center

Sung, Hyunsook; And Others

1997-01-01

A case study of three adults (ages 46-47) with Down syndrome investigated the patterns of symptoms associated with depression and dementia. Characteristics that distinguish between dementia and depression in adults with Down syndrome are described. Periodic comprehensive assessment of adults with Down syndrome to detect functioning changes is…

[Multiorgan autoimmune syndrome: case report].

PubMed

Ghiringhelli, Paolo; Chelazzi, Paolo; Chelazzi, Giovanni; Bellintani, Claudio; Rania, Simone

2003-01-01

The present case report refers to a multiorgan autoimmune disease manifesting following thymectomy performed for a benign thymoma. This disease is characterized by hypothyroidism, severe myasthenia, polymyositis and alopecia which are organ-specific diseases probably with a different time of onset but which are all an expression of the same immunopathologic process occurring in individuals who have a genetic predisposition. Characteristic of the present case is not only the association of the different immunopathologic clinical pictures but also the rather difficult differential diagnosis between a hypothyroidism-related myopathy and polymyositis. It was possible to formulate the diagnosis by integrating the results of clinical and laboratory evaluation with the therapeutic outcome. The onset of the syndrome was attributed to the withdrawal, following surgery, of the inhibitory effects of the thymoma on some clones of autoreactive lymphocytes.

Rich Responses Help Babies Learn and Thrive

ERIC Educational Resources Information Center

Gillespie, Linda; Parlakian, Rebecca

2009-01-01

This article reminds infant care teachers of the ways thoughtful interactions between adults and very young children teach babies and toddlers who they are as individuals. "When teachers take the time to respond respectfully and thoughtfully, babies and young children learn and thrive."

Acute organic brain syndrome: a review of 100 cases.