ABSTRACT
An adequate experimental model is important to understand pathophysiological processes ongoing in the pancreas with diabetes mellitus. Our study was aimed to describe early ultra- and microstructural changes in the rat pancreas in 12-48 h after alloxan administration in a dose of 180 mg/kg. A histopathological examination of the endocrine pancreas revealed the loss of borders between endocrine cells, granular dystrophy and degranulation, sings of necrosis in central cells of the Langerhans islets and apoptosis of their peripheral ones manifested as DNA fragmentation and an increased expression of apoptosis markers. There was a gradual increase of a Langerhans islet area, a decreased percentage of insulin+ cells and an increased one of glucagon+ cells, as well as the presence of proliferating islet cells were found. Structural changes of the exocrine pancreas included fatty degeneration, signs of exocrine cell mitochondrial damage, increased acini, which are located mainly around the Langerhans islets, as well as perivascular edema and leukocytic infiltration. Described ultra- and microstructural alterations suggest a significant contribution of apoptosis to death of endocrine cells exposed to alloxan. Coexisting damage of the exocrine pancreas with its stroma involvement is for the first time described.
Subject(s)
Diabetes Mellitus, Experimental/pathology , Pancreas/pathology , Pancreas/ultrastructure , Animals , Male , Microscopy, Electron, Transmission , Rats , Rats, WistarABSTRACT
Schwartz-Jampel syndrome is a heterogeneous autosomal recessive syndrome defined by myotonia, short stature, bone dysplasia and growth retardation. Three types have been described: type 1A, usually recognized in childhood, with moderate bone dysplasia; type 1B similar to type 1A but recognizable at birth, with more prominent bone dysplasia and type 2, a rare, more severe form with increased mortality in the neonatal period. In this paper we report three pediatric cases, one with neonatal manifestation.
Subject(s)
Osteochondrodysplasias/genetics , Abnormalities, Multiple/genetics , Child, Preschool , Female , Humans , Infant, Newborn , MaleABSTRACT
OBJECTIVES: This study examined prevalence and correlates of anemia in the Muynak District of Uzbekistan, an area of rapidly changing social and economic conditions following the collapse of the Soviet Union. METHODS: Questionnaire data and blood samples were collected on a random sample of 433 children aged 1 through 4 years. RESULTS: The prevalence of anemia ranged from 89% in 1-year-olds to 48% in 4-year-olds. Correlates for anemia included younger age, a communal water source, and a history of pica. CONCLUSIONS: Anemia is a widespread problem in young children in this district. An aggressive attempt to reverse this problem is needed.
Subject(s)
Anemia/epidemiology , Anemia/blood , Anemia/complications , Anemia, Iron-Deficiency/epidemiology , Child, Preschool , Female , Humans , Infant , Logistic Models , Male , Pica/complications , Prevalence , Surveys and Questionnaires , Uzbekistan/epidemiology , Water SupplyABSTRACT
A cytogenetic study of 77 adolescent girls with primary or secondary amenorrhea was performed. A pathologic or male karyotype was found in 18 (26.4%) of 68 patients with primary amenorrhea. In 1 (11.1%) of 9 patients with secondary amenorrhea, 46,XX/47,XXX mosaicism was recovered. The importance of the cytogenetic investigations in patients with primary or secondary amenorrhea was discussed.
Subject(s)
Amenorrhea/genetics , Sex Chromosome Aberrations/diagnosis , Adolescent , Androgen-Insensitivity Syndrome/diagnosis , Androgen-Insensitivity Syndrome/genetics , Female , Humans , Karyotyping , Male , Mosaicism/diagnosis , Sex Chromosome Aberrations/genetics , Turner Syndrome/diagnosis , Turner Syndrome/genetics , Turner Syndrome/pathology , X Chromosome , Y ChromosomeABSTRACT
This report describes a girl with phocomelia of the right upper limb, ectrodactyly, sacral hypoplasia and a large skull defect, but with normal growth and mental development. Ultrasonography and intravenous pyelography showed bilateral hydronephrosis and dilated ureters. We conclude that this patient may represent Schinzel-phocomelia syndrome with additional urinary tract anomalies.
Subject(s)
Abnormalities, Multiple/genetics , Arm/abnormalities , Ectromelia/genetics , Fingers/abnormalities , Skull/abnormalities , Urinary Tract/abnormalities , Abnormalities, Multiple/diagnostic imaging , Arm/diagnostic imaging , Ectromelia/diagnostic imaging , Female , Humans , Infant, Newborn , Skull/diagnostic imaging , Syndrome , UrographyABSTRACT
A case report of a 20-year-old female with bilateral acoustic neurofibromatosis (NF-2) and bilateral facial schwannomas is presented. Multiple segmental schwannomas were found with clinically intact tissue between each tumoral enlargement in the right parotid region. Translocation (2;8) (p2.4:q2.1) was detected in this patient, and has not been reported in a schwannoma until now. The patient's family would not allow any major surgery to be performed.
Subject(s)
Cranial Nerve Neoplasms/genetics , Facial Nerve Diseases/genetics , Neoplasms, Second Primary/genetics , Neurofibromatosis 2/genetics , Adult , Biopsy , Chromosomes, Human, Pair 2 , Chromosomes, Human, Pair 8 , Cranial Nerve Neoplasms/diagnosis , Cranial Nerve Neoplasms/pathology , Cranial Nerve Neoplasms/surgery , Facial Nerve/pathology , Facial Nerve Diseases/diagnosis , Facial Nerve Diseases/pathology , Facial Nerve Diseases/surgery , Female , Humans , Karyotyping , Neoplasms, Second Primary/diagnosis , Neoplasms, Second Primary/pathology , Neoplasms, Second Primary/surgery , Neurofibromatosis 2/diagnosis , Neurofibromatosis 2/pathology , Neurofibromatosis 2/surgery , Tomography, X-Ray Computed , Translocation, Genetic/geneticsABSTRACT
Six patients with Bardet-Biedl syndrome who have been followed in our clinics for the last 5 years are reported in this study. Of the five classic features of this syndrome; obesity and mental retardation were present in all cases, retinal disturbances were present in five, polydactyly in three and hypogenitalism was observed in all four male patients. Renal involvement, often suggested as a cardinal feature of this syndrome, was described in two patients. Iron deficiency anemia occurred in three patients, two patients were of short stature, one patient presented with an empty sella, and in two patients clinodactyly was detected. The results are compared to previously published literature and discussed.
