Association of high pre-pregnancy body mass index with adverse maternal and perinatal outcomes.

Background & Objectives: Obesity is an epidemic of the 21 century with its rates doubling in both developed and developing countries. It raises concerns for both maternal and fetal well-being and needs altered care throughout pregnancy and in postnatal period. Raised BMI prior to conception is associated with adverse feto-maternal outcomes.

Association of high Body Mass Index and postdates pregnancy.

Background And Objective: Obesity with its growing prevalence is a major public health problem influencing gestational age at delivery. Raised Body Mass Index (BMI) has been shown to be associated with significantly increased risk of prolonged pregnancy; which is an important contributor to perinatal morbidity and mortality. Obesity needs modified antenatal, intrapartum and postpartum care by obstetrician.

Relationship between immediate postpartum umbilical cord pH, fetal distress and neonatal outcome.

Objectives: To determine relationship between immediate postpartum umbilical cord pH, fetal distress and neonatal outcome.

Methods: This descriptive cross-sectional study was conducted in the department of Gynaecology, Lady Reading Hospital Peshawar, Pakistan, from January 2019 to July 2019. This study included 27 full-term pregnant women who had abnormal CTG during the active or latent phase of labour.

Woman health; uterus rupture, its complications and management in teaching hospital bannu, pakistan.

Objectives: To evaluate risk factors, management, maternal and fetal outcomes of ruptured uterus at Women and Children Teaching Hospital Bannu, Pakistan.

Study Design: The prospective observational study was designed from January 2009 to December 2009. A total 64 patients were found with ruptured uterus evaluated in Women and Children Teaching Hospital Bannu, Pakistan.

DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex.

Four patients from three families with the clinical features of DOOR syndrome (onycho-osteodystrophy, dystrophic thumbs, sensorineural deafness, and increased urinary levels of 2-oxoglutarate) are the subjects of this report. Our report deals with the autosomal recessive form of the disease, wherein the activity of 2-oxoglutarate decarboxylase (E1(0)) in fibroblasts and white blood cells of the patients is decreased. The activity of E1(0) in all patients' fibroblasts and white blood cells was significantly lower compared to the controls.

Robinow syndrome with growth hormone deficiency: treatment with growth hormone.

We describe a 5 years and nine months old boy who presented with facial features, vertebral anomalies and dwarfism consistent with Robinow syndrome. Investigations revealed growth hormone (GH) deficiency to be the cause of his dwarfism. We reviewed data on four other patients with Robinow syndrome from the Genentech National Cooperative Growth Study (NCGS).

Direct insertion of euchromatic material from chromosome Y in the X-chromosome in hypogonadotropic hypogonadisms with Crohn's disease.

The relationship between chromosomal abnormalities and Crohn's disease has not been established. Crohn's disease is associated with inflammation of the bowel, severe abdominal pain and chronic diarrhea. Its etiology is not known at present.

Improved morbidity with the use of nasal continuous positive airway pressure in I-cell disease.

Patients with I-cell disease (mucolipidosis II) present with progressive morbidity failure to thrive, cardiomegaly, and recurrent respiratory tract infections leading to progressive deterioration and early death. We evaluated use of nasal continuous positive airway pressure (NCPAP) for 6 months in a 2-year-old girl with I-cell disease, obstructive sleep apnea (OSA), and craniofacial anomalies. We observed a marked decrease in hospitalizations for respiratory problems and a marked improvement in arterial blood gases with the use of NCPAP.

Osteoglophonic dysplasia: review and further delineation of the syndrome.

We report on a boy with clinical and radiologic findings of osteoglophonic dysplasia. He had craniostenosis, "bizarre," expansile cystic lesions in the diaphyses, delayed tooth eruption, and progressive rib expansion typical of the syndrome. Initially delayed psychomotor development with later normal intelligence, early feeding and breathing difficulty, and speech delay are also characteristic of the disorder.

Fetal alcohol syndrome at the turn of the 20th century. An unexpected explanation of the Kallikak family.

At the turn of the 20th century, studies of a family known in the literature as the Kallikaks were used to document the hereditary nature of mental retardation, poverty, and antisocial behavior. This family was said to authenticate eugenic theory, which states that heritable characteristics carried by individuals on "independent unit characters are unalterable determinants of behavior and performance. A review of the original Kallikak data, however, suggests that in utero exposure to alcohol rather than heredity contributed significantly to the transgenerational learning failure seen throughout the Kallikak pedigree.

A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.

Three unrelated Puerto Rican boys, ranging in age from 3 to 4 years, had marked, central, non-progressive hypotonia, chronic constipation, severe psychomotor retardation, seizures or abnormal electroencephalograph or both, abnormal dermatoglyphics, delayed bone age, dysharmonic skeletal maturation, and preponderance and larger size of type 2 muscle fibres. Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the three patients also had undescended testes, hypertelorism, and tapered fingers.

The Coffin-Siris syndrome.

We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficulties. There was decreased fetal activity and intrauterine growth retardation.

Triphalangeal thumb.

Triphalangeal thumb (TPT), a rare malformation of uncertain pathogenesis, may occur as an isolated defect, in association with other malformations of the hands, or as a feature of a syndrome or sequence. Isolated TPT occurs in two functional types: opposable and non-opposable. The latter appears to be inherited as a simple autosomal dominant trait, while the former is generally sporadic.

Lack of evidence for craniofacial dysmorphism in perinatal human immunodeficiency virus infection.

Thirty children perinatally exposed to human immunodeficiency virus (HIV) infection and 30 healthy control subjects matched for age, sex, and race were evaluated for growth, head size, craniofacial dysmorphism, dermatoglyphics, and other physical features. Thirteen patients met the criteria for group IV (constitutional, neurologic, and secondary infectious diseases), 14 for group III (persistent generalized lymphadenopathy or hepatosplenomegaly), and three for group II (asymptomatic infection) of the classification of HIV infection established by the Centers for Disease Control, Atlanta. Postnatal growth failure and microcephaly, observed in a significant proportion of patients (46.

Distichiasis, congenital heart defects and mixed peripheral vascular anomalies.

We report on a previously apparently unreported syndrome of distichiasis with congenital heart defects and with mixed peripheral vascular anomalies in a mother and her four children. The mother had a ventricular septal defect; both daughters had surgery for patent ductus arteriosus. Sinus bradycardia alone (elder son), with stress induced asystole (younger son), and with wandering atrial pacemaker (both daughters) are documented electrocardiographically.

A familial dilated cardiomyopathy associated with cataracts and hip-spine disease.

A dilated cardiomyopathy was observed in two generations of a kindred, associated with articular disease and premature cataracts, a unique triad not previously described to our knowledge. The cardiomyopathy was characterized histologically by basophilic PAS-positive granulofilamentous deposits in the myocardium. The articular disease included hip joint degeneration, irregular intervertebral disks, and platyspondyly.

Abnormalities in offspring associated with prenatal marihuana exposure.

5 newborn infants, whose mothers acknowledged steady use of marihuana prior to and during pregnancies, displayed symptoms of intrauterine growth retardation, neurological problems, and abnormal morphogenesis. These findings fit in with the experimental studies and surveys of pregnant human populations which have indicated that cannabis products have teratogenic potential, though rigorous proof must await further information.

Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome.

A 10-year-old boy and his 9-year-old sister, with abnormalities of distal phalanges of hands and feet, onychodystrophy, deafness, mental retardation, seizure disorder, and abnormal dermatoglyphics, are described. Six similarly affected patients have been reported. These eight patients represent a new syndrome, which is inherited as an autosomal recessive trait.

I-cell disease (mucolipidosis II). Differential expression in satellite cells and mature muscle fibers.

A well documented case of I-cell disease is presented. Light- and electron-microscopic studies of muscle revealed marked accumulation of characteristic I-cell inclusions in satellite cells and only scattered autophagic vacuoles in muscle fibers. Correlation with previous tissue culture studies indicated an amelioration of structural abnormalities with differentiation from satellite cell to mature muscle fiber.

A clinical neuropathological study of the fetal alcohol syndrome.

Five patients with the clinical diagnosis of fetal alcohol syndrome (FAS) died at the ages of 8 and 4 months and 17, 4 and 2 days. Neuropathological examination revealed microencephalic brains in all cases, without morphological evidence of maturation delay. One of them showed agenesis of the corpus callosum and hypoplasia of the cerebellar vermis.