Severe lower limb defects in exstrophy of the cloaca

We present here a patient with exstrophy of the cloaca associated with severe lower limb defects. The limb malformations include, on the right, a split foot with distal separation of the tibia and fibula, and on the left, attachment of the lower half of the left leg with a two-toed foot at nearly a right angle to the mid left thigh. A review of the literature indicates that 17-26% of patients with cloacal exstrophy also have lower limb defects. We hypothesize that cloacal exstrophy and associated lower limb defects have a related pathogenesis and that both are related to deficiencies of caudal mesoderm or mesodermal differentiation signals. More cases of exstrophy of the cloaca with limb defects need to be reported to better characterize the limb anomalies and to more precisely determine their frequency.     

Sorbitol Intolerance in Adults

Sorbitol is a commonly used sugar substitute in "sugar-free" food products. Although sorbitol intolerance manifested by abdominal pain, bloating, and diarrhea has been observed in children, it has not been well documented in adults. Forty-two healthy adults (23 whites, 19 nonwhites) participated in this study. After ingestion of 10 g of sorbitol solution, end expiratory breath samples were collected at 15-min intervals for 4 h and analyzed for H2 concentration. Clinical sorbitol intolerance was detected in 43% of the whites and 55% of the nonwhites, the difference not being statistically significant. However, severe clinical sorbitol intolerance was significantly more prevalent in nonwhites (32%) as compared to whites (4%). There was a good correlation between the severity of symptoms and the amount of hydrogen exhaled. Dietetic foods, many of them containing sorbitol, are very popular with diabetics and "weight watchers." Based on our observations, we believe that a large number of adults could be suffering from sorbitol-induced nonspecific abdominal symptoms and diarrhea. These symptoms could lead to an extensive diagnostic work-up and lifelong diagnosis of irritable bowel syndrome.     

Macrocarposide, a new isoflavanone c-glucoside from Pterocarpus macrocarpus heart wood

Macrocarposide has been isolated for the first time as a natural product from the heartwood of PTEROCARPUS MACROCARPUS along with some known compounds. Based on its spectral and chemical evidence, it has been assigned the structure dalbergioidin-6- C-glucoside ( 1).     

Concurrent intrapericardial–pulmonary hydatidosis: an unusual multisystem echinococcosis

A 46-year-old male presented with breathlessness for a few months. He had been operated twice for liver hydatid cysts and once for right pulmonary hydatid cysts at other hospitals. Now he was found to have one hydatid cyst in the upper lobe of the left lung and multiple hydatid cysts adjoining left heart border. On computed tomography (CT) scan chest and echocardiography, it was difficult to ascertain whether these cysts were pulmonary or intrapericardial. Left ventricular ejection fraction (LVEF) was 25%. Enzyme-linked immunosorbent assay (ELISA) was positive for hydatid. Left posterolateral thoracotomy revealed dead hydatid cyst in upper lobe of the lung that was removed. Infected mother hydatid cyst was encountered inside pericardial sac. Scores of daughter hydatid cysts, varying in size from 1 to 30 mm, were scooped out intact from the pericardial cavity. There was significant improvement in cardiac activity, once the tamponade effect of hydatid cyst was removed. Pericardium was about 1 cm thick with lot of purulent and necrotic slough. To prevent future constrictive pericarditis, subtotal pericardiectomy was done. Intrapericardial hydatid cyst should be kept in mind whenever it obscures the heart border and patient has features of cardiac tamponade. Early surgical intervention may be required in these cases.     

Multi-dimensional clinical phenotyping of a national cohort of adult cystic fibrosis patients

BackgroundCystic Fibrosis (CF) is a multi-systemic disorder resulting from genetic variation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene which can result in bronchiectasis, chronic sinusitis, pancreatic malabsorption, cholestatic liver disease and distal intestinal obstructive syndrome. This study generates multi-dimensional clinical phenotypes that capture the complexity and spectrum of the disease manifestations seen in adult CF patients using statistically robust techniques.MethodsPre-transplant clinical data from adult (age ≥18 years) CF patients (n = 992) seen in six regionally distinct US CF centers between 1/1/2014 and 6/30/2015 were included. Demographic, spirometry, nutritional, microbiological and therapy data were used to generate clusters using the Random Forests statistical-learning and Partitioning around Medoids (PAM) clustering algorithms. Five commonly measured demographic, physiological and nutritional parameters were needed to create the final phenotypes that are highly similar to a regionally matched group of patients from the CF Foundation Patient RegistryResultsThis approach identified high-risk phenotypes with expected characteristics including high rates of pancreatic insufficiency, diabetes and Pseudomonas aeruginosa colonization. It also identified unexpected populations including a) a male-dominated, well-nourished group with good lung function with a high prevalence of severe genotypes (i.e. 60% subjects had two minimal function CFTR variations), b) and an older, “survivor” phenotype that had high rates of chronic P. aeruginosa infection.ConclusionsThis study identified recognizable phenotypes that capture the clinical complexity in a statistically robust manner and which may aide in the identification of specific genetic and environmental factors responsible for these disease manifestation patterns.     

Typhoid fever in a 7 month old infant

The clinical profile of typhoid fever in an infant is variable and non-specific. A rare case of typhoid fever in a 7 month old infant is reported. The child presented with only a day's history of fever and loose motions which resulted in severe dehydration, acute tubular necrosis and death. The diagnosis of typhoid fever was made only on post-mortem study. The problem in diagnosing typhoid fever in a young infant is highlighted with a brief literature review on the subject.     

Neural tissue transplant in the lateral hypothalamic lesioned rats: functional recovery pattern

Transplantation has come of age as an important investigative tool for studying normal growth and development of the brain tissue. The present study reports the effect of lateral hypothalamic (LHA) lesion and foetal hypothalamic tissue transplantation on the feeding behaviour. In a group of rats, LHA was lesioned bilaterally by passing direct current. Subsequently, in a separate group of rats, foetal hypothalamic tissue was transplanted at the lesioned site. Following LHA lesion, all the rats died of aphagia and adipsia within 7 days, whereas, the rats in whom foetal hypothalamus was transplanted, started taking food and water in small quantities from the first day of transplantation itself. Later, they were able to attain their preoperative values. This recovery of the feeding behaviour following foetal tissue transplantation may be due to the formation of synaptic connections or due to the release of neurotrophic factors.     

Seasonal affective symptoms in adults with residual attention-deficit hyperactivity disorder.

There is evidence from clinical, epidemiological, and neuroimaging studies that attention-deficit hyperactivity disorder (ADHD) and seasonal affective disorder (SAD) may have several features in common. To assess seasonal affective symptoms in adults with ADHD, 115 individuals attending an adult ADHD clinic in Toronto, Ontario, Canada were asked to complete the Seasonal Pattern Assessment Questionnaire (SPAQ). From this clinic population of 115, a total of 56 completed SPAQs were returned. Assuming that all individuals failing to complete the SPAQ were nonseasonal and depending on which case-finding criteria were used, the rate of SAD in the overall clinic sample was estimated at either 10.4% (Terman criteria) or 19.1% (criteria of Kasper et al.). These prevalence rates are significantly greater than the rates reported in large population surveys at similar latitudes. There was an apparent relationship between female gender, impulsive-subtype ADHD, and seasonality. Future studies to examine whether core symptoms of ADHD fluctuate across the seasons and to assess the efficacy of light therapy in "seasonal" ADHD patients would be of great theoretical and clinical interest.