Intraplacental Choriocarcinoma in Twin Pregnancy Causing Fetomaternal Haemorrhage and Single Twin Demise: Case Report.

Gestational choriocarcinoma is a rare aggressive form of gestational trophoblastic neoplasia. In cases of intraplacental choriocarcinoma, the tumour is confined to the placenta. Intraplacental choriocarcinoma in twin pregnancies is a very rare occurrence with less than 5 previously reported cases in the literature.

Ossified Encapsulated Cephalhematoma.

Ossified cephalhematoma is a rare congenital condition that may be found if newborn cephalhematoma is not resolved. Here, however, the authors report an exceptional case of an 8-month-old baby presenting with an ossified cephalhematoma in the right parieto-occipital area. Pre-operative imaging showed a calcified subperiosteal hematoma.

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.

We describe a sibling pair displaying an early infantile-onset, progressive neurodegenerative phenotype, with symptoms of developmental delay and epileptic encephalopathy developing from 12 to 14 months of age. Using whole exome sequencing, compound heterozygous variants were identified in , which encodes the sodium-dependent multivitamin transporter (SMVT) protein. SMVT is an important transporter of the B-group vitamins biotin, pantothenate, and lipoate.

Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I.

We describe two cases of neonatal onset interstitial lung disease eventually diagnosed as mucopolysaccharidosis type I (MPS I). In both cases, evaluation led to lung biopsy, pathology review, and identification of glycogen deposition. Pulmonary interstitial glycogenosis (PIG) was considered as a clinical diagnosis in case one; however, further review of electron microscopy (EM) was more consistent with MPS I rather than PIG.

Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade's experience.

Background: Childhood interstitial lung disease (chILD) represents a rare heterogeneous group of respiratory disorders. In the absence of randomized controlled clinical trials, global collaborations have utilized case series with an aim to standardising approaches to diagnosis and management. Australasian data are lacking.

Human fetal lung morphometry at autopsy with new modeling to quantitate structural maturity.

Objectives: To demonstrate a simplified morphometric procedure, including a new model for acinar structural maturity, applicable to autopsy fetal lung and present reference values for these parameters.

Study Design: Cases with autopsy consent for research were studied. To simplify analysis only critical morphometric parameters were measured to allow calculation of gas-exchange surface area.

BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.

Recessive mutations in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome, a phenotype characterized by neonatal microcephaly, hypertonia, and refractory epilepsy with premature death by age 2 years. Recently, attenuated disease variants have been described, suggesting that a wider clinical spectrum of BRAT1-associated neurodegeneration exists than was previously thought. Here, we report two affected siblings with compound heterozygous truncating mutations in BRAT1 and intra-familial phenotypic heterogeneity, with a less severe disease course in the female sibling.

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.

Ectrodactyly/split hand-foot malformation is genetically heterogeneous with more than 100 syndromic associations. Acinar dysplasia is a rare congenital lung lesion of unknown etiology, which is frequently lethal postnatally. To date, there have been no reports of combinations of these two phenotypes.

Congenital Disseminated Extrarenal Malignant Rhabdoid Tumor.

Soft tissue tumors arising in association with genetic or malformation syndromes have been increasingly reported. Malignant rhabdoid tumor (MRT) is a highly aggressive neoplasm of infancy and young childhood, characterized by typical morphology and biallelic inactivation of the SMARCB1 (INI1/hSNF5/BAF47) gene on chromosome 22q.2 which encodes a subunit of the SWI/SNF ATP-dependent chromatin remodeling complex.

Plexiform pulmonary arteriopathy in a 2 year-old boy.

Idiopathic pulmonary arterial hypertension is a rare disease in children. We report a case of a 2-year old boy admitted to the intensive care unit of our hospital for severe dyspnea and epistaxis. Laboratory investigations showed hemolytic anemia with schizocytes and severe thrombocytopenia.

Dose reduction of meloxicam in dogs with osteoarthritis-associated pain and impaired mobility.

Background: Progressive nonsteroidal anti-inflammatory drug (NSAID) dose reduction appears logical; however, there is no evidence-based medicine indicating that efficacy is maintained as dose is reduced.

Objective: To determine if NSAID dose can be reduced and pain relief and mobility can be maintained in dogs with osteoarthritis (OA).

Animals: Client-owned dogs (n = 59) with OA-associated impaired mobility and pain.

Exposure to cyclic oxygen sufficient for development of oxygen-induced retinopathy does not induce bronchopulmonary dysplasia in rats.

Bronchopulmonary dysplasia and retinopathy of prematurity affect premature infants exposed to supplemental oxygen. Susceptibility to oxygen-induced retinopathy in the rat is heritable, with inbred Dark Agouti (DA) rats being more susceptible than Fischer 344 (F344) rats. To establish if hyperoxic exposure sufficient to induce florid retinopathy would induce strain-specific lung changes, newborn DA and F344 rats were exposed to cyclic hyperoxia or room air for up to 18 days.

Stage I seminoma in a 15-year-old boy.

Seminomas are very rare tumours in children and adolescents. We describe a case of seminoma in a 15-year-old boy who was managed with orchidectomy but no adjuvant therapy. He remains relapse-free 8 years after surgery as determined by clinical, radiological and serological surveillance.

Restricted fetal growth and lung development: a morphometric analysis of pulmonary structure.

Intrauterine growth restriction (IUGR) in humans increases the risk of lung disease and impaired function suggesting that adverse intra-uterine conditions can alter lung development. We hypothesized that placental restriction (PR) of fetal growth would alter lung structure in late gestation. PR involved removal of implantation sites in pre-pregnant ewes.

Urogenital nonunion--the case for laparoscopy for the impalpable testis.

A case of urogenital nonunion is presented to illustrate the importance of laparoscopy for the impalpable testis. A 4-year-old boy with an impalpable left testis underwent laparoscopy. This revealed not only the vas deferens entering the deep inguinal ring but also a small intraabdominal testis supplied by the testicular vessels.

Enteric duplications presenting as antenatally detected abdominal cysts: is delayed resection appropriate?

Purpose: The aim of this study was to evaluate delayed elective resection of antenatally detected enteric duplication cysts.

Methods: A retrospective casenote study of intraabdominal cysts detected antenatally between January 1991 and January 2002 found 37 fetuses with cysts. Twelve were enteric duplications.

Limb-body wall complex: a case series.

Objective: Limb-body wall complex (LBWC) is a rare fetal polymalformation of uncertain etiology, but it has been regarded as sporadic in nature with a low recurrence risk. We review a case series in light of recent evidence about possible genetic and environmental associations.

Methods: All abortions or births coded as limb-body wall defect or fetal acrania/exencephaly or with unclassified polymalformation between January 1996 and January 2001 were audited.

Analysis of the conducting airway system in the lung: a new method combining morphometry with mathematical modeling for airway classification.

Although the lung is structurally complex, it is suitable for morphometric analysis of the structural determinants of lung function in health and disease. Analysis of the organized branching airways has been problematic because of the need to identify and classify airways before structural characteristics of different-order branches can be determined. Airway casts have been used to identify relationships between branches, measure some structural features, and develop mathematical models that describe simply the relationships between generations.

Non-alcoholic steatohepatitis in children and adolescents.

We describe 17 children with non-alcoholic steatohepatitis. All had elevated levels of serum liver enzymes and 16 were morbidly obese. Liver biopsy showed variable steatosis and fibrosis in nine patients.

Effect of immediate versus slow intrauterine reduction of congenital diaphragmatic hernia on lung development in the sheep: a morphometric analysis of term pulmonary structure and maturity.

The incidence of congenital diaphragmatic hernia (CDH) is 1:1,200-5, 000, and the condition is associated with high mortality and morbidity attributed principally to associated pulmonary hypoplasia. One treatment approach has been for intrauterine intervention to induce lung growth to a sufficient level to allow survival at birth. Repair of the hernia in utero has been attempted, using a method of immediate reduction and repair of the hernia (patch) compared to a slow reduction method using a silastic "silo" sewn over the diaphragm defect to contain the hernial contents.