Distal arthrogryposis syndrome

A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA) syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome.     

Prognostic significance of the histomorphometric features of bone marrow trephine biopsies in patients with chronic myeloid leukemia

OBJECTIVE: To study the correlation of histomorphometric data of bone marrow trephine biopsies at the time of initial diagnosis in chronic myeloid leukemia (CML) patients with the patient prognosis. STUDY DESIGN: A total of 40 CML patients were divided equally in group I (developed accelerated phase or blast crisis within 18 months of initial diagnosis of chronic phase of CML) and group II (developed accelerated phase or blast crisis > 30 months after initial diagnosis of chronic phase of CML). The clinical, hematologic and histomorphometric data were compared in the 2 groups of CML patients. RESULTS: The percentage of bone marrow promyelocytes was significantly increased in group I. On morphometry, the number of blasts per square millimeter, the area of reticulin fibers per square millimeter and the percentage area occupied by reticulin fibers were statistically significant. CONCLUSION: There seems to be grounds for hope for predicting prognosis of CML patients at initial diagnosis based on histomorphometric findings. The percentage area of reticulin fibers and the number of blasts per square millimeter are important prognostic predictors in histomorphometry data.     

Simulation of fermentation conditions for vitamin B12 biosynthesis from whey

Vitamin B₁₂ production in fermentation of Propionibacterium shermanii and Propionibacterium arl AKU 1251 in whey permeate medium has been studied. The observed results and simulated expected values obtained by fitting statistical equations to the recorded data showed that 24 h old inoculum, 5 mg iron l^?1 and 4% whey lactose were optimal for vitamin B₁₂ biosynthesis in both strains when fermentation was carried out under anerobic (84 h) and aerobic (84 h) conditions at 30°C. The supplementation of whey medium with 0.5% (NH₄)₂HPO₄ enhanced further the metabolite yield; however, the preference for a mixed carbon source (lactose + d-glucose or lactose + d-fructose) at different levels varied in the strains under study. P. shermanii, under optimal cultural conditions, was found to be a better strain than Propionibacterium arl AKU, 1251 in fermenting whey lactose for product (vitamin B₁₂) formation.