Peutz-Jeghers polyp: A Retrospective Study on Twelve Cases Received at the Department of Pathology, Bangabandhu Sheikh Mujib Medical University

Background: Peutz Jegher syndrome is a rare inherited condition characterized mainly by gastrointestinal hamartomatous polyposis and mucocutaneous pigmentation. The polyps are mostly found in the small bowel and less frequently in the stomach and large gut. Objectives: This study was done to observe the clinical and pathological features of Peutz Jegher polyps. Methods: A retrospective study was carried out in the Department of Pathology, Bangabandhu Sheikh Mujib Medical University (BSMMU) during the five and a half year period from 1st January 2006 to 30th June 2011. From the records the cases which were diagnosed as Peutz Jeghers polyps were sorted out, clinical data was compiled and slides were reviewed. Results: During this period 12 cases were diagnosed as Peutz Jeghers polyp. Most of these (n=58.33%) occurred in the second decade of life and majority (n=9) were located in the large gut including sigmoid colon and rectum. Both sessile as well as pedunculated types were seen. All had characteristic histologic features of Peutz Jeghers polyps and in only one case there was a mild dysplastic change in the glandular lining epithelium. Conclusion: Close monitoring of the patients with peutz Jeghers polyp can reduce the morbidity of this condition.DOI: http://dx.doi.org/10.3329/bsmmuj.v5i1.10994 BSMMU J 2012; 5(1):12-17

Bardet-Biedl syndrome

The Bardet-Biedl syndrome is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological manifestations. Mutations in 16 genes have been identified as causative factors. We, here, have presented a 12 year old male patient exhibiting characteristic features of Bardet Biedl syndrome.

The effect of the maternal vitamin D level on the risk of spontaneous pregnancy loss in the first trimester

Background: Pregnancy loss in the first trimester is one of the most disappointing matters for a mother. But spontaneous pregnancy loss in the first trimester is the most common negative outcome of pregnancy. It's estimated that about 10% of known pregnancies are lost in the first trimester whereas fewer than 4% of pregnancies miscarry in the second trimester. Aim of current study was to assess the effect of the maternal vitamin D level on the risk of spontaneous pregnancy loss in the first trimester.Methods: It was a case-control study conducted in the department of obstetrics and gynecology, Sir Salimullah medical college Mitford hospital, Dhaka, Bangladesh during the period of September 2018 to August 2019. A total of 100 patients were included in this study. Statistical analyses of the results were obtained by using window-based computer software devised with SPSS version 22.0.Results: In analyzing the association of serum vitamin D status with first-trimester pregnancy state it was observed that more than half (52.0%) patients had severe deficiency (<10 ng/ml) in the case group and 14 (28.0%) patients in the control group. In total 24 (48.0%) patients had deficiency (10-20 ng/ml) in case and 35 (70.0%) in control group. Only 1 (2.0%) patient had insufficiency (21-29 ng/ml) in control group. The difference was statistically significant (p<0.05) between the two groups.Conclusions: Maternal serum vitamin D deficiency was significantly associated with early spontaneous pregnancy loss in the first trimester

Hypocretin-2 Saporin Lesions of the Ventrolateral Periaquaductal Gray (vlPAG) Increase REM Sleep in Hypocretin Knockout Mice

Ten years ago the sleep disorder narcolepsy was linked to the neuropeptide hypocretin (HCRT), also known as orexin. This disorder is characterized by excessive day time sleepiness, inappropriate triggering of rapid-eye movement (REM) sleep and cataplexy, which is a sudden loss of muscle tone during waking. It is still not known how HCRT regulates REM sleep or muscle tone since HCRT neurons are localized only in the lateral hypothalamus while REM sleep and muscle atonia are generated from the brainstem. To identify a potential neuronal circuit, the neurotoxin hypocretin-2-saporin (HCRT2-SAP) was used to lesion neurons in the ventral lateral periaquaductal gray (vlPAG). The first experiment utilized hypocretin knock-out (HCRT-ko) mice with the expectation that deletion of both HCRT and its target neurons would exacerbate narcoleptic symptoms. Indeed, HCRT-ko mice (n = 8) given the neurotoxin HCRT2-SAP (16.5 ng/23nl/sec each side) in the vlPAG had levels of REM sleep and sleep fragmentation that were considerably higher compared to HCRT-ko given saline (+39%; n = 7) or wildtype mice (+177%; n = 9). However, cataplexy attacks did not increase, nor were levels of wake or non-REM sleep changed. Experiment 2 determined the effects in mice where HCRT was present but the downstream target neurons in the vlPAG were deleted by the neurotoxin. This experiment utilized an FVB-transgenic strain of mice where eGFP identifies GABA neurons. We verified this and also determined that eGFP neurons were immunopositive for the HCRT-2 receptor. vlPAG lesions in these mice increased REM sleep (+79% versus saline controls) and it was significantly correlated (r = 0.89) with loss of eGFP neurons. These results identify the vlPAG as one site that loses its inhibitory control over REM sleep, but does not cause cataplexy, as a result of hypocretin deficiency

Multiple Epiphyseal Dysplasia (MED): A Rare Type of Skeletal Dysplasia

Multiple epiphyseal dysplasia (MED) is a congenital disorder of skeletal development that primarily affects the ends of long bones, causing progressive joint and bone inflammation and short stature. Mutations in several genes are responsible for pathogenesis of this disease. We are reporting a case of MED who presented with the complaints of multiple swelling of the joints which was associated with pain during movement for last seven years. The patient had flexion deformity of all the affected joints along with restriction of movement. These were associated with kyphosis, pectus carnitum, knock-knee and short stature. Radiological findings were suggestive of MED. Counseling was done with the parents regarding the etiology, progression and outcome of the disease.DOI: http://dx.doi.org/10.3329/bsmmuj.v5i1.11025 BSMMU J 2012; 5(1):57-60

Pediatric gastrointestinal tuberculosis with hematochezia and polyarthritis: An unusual presentation

Tuberculosis may present with variable symptoms and signs, sometimes presentations are unusual. An eight year old boy was admitted with the complaints of low grade fever, weight loss, abdominal pain, hematochezia and polyarthritis. Colonic biopsy was suggestive of tuberculosis and Gene-Xpart of sputum showed of multidrug resistant tuberculosis. We are reporting a case presented with hematochezia and poloyarthritis, an unusual presentation who was subsequently diagnosed as a case of multi drug resistant intestinal tuberculosis

Pediatric gastrointestinal tuberculosis with hematochezia and polyarthritis: An unusual presentation

Tuberculosis may present with variable symptoms and signs, sometimes presentations are unusual. An eight year old boy was admitted with the complaints of low grade fever, weight loss, abdominal pain, hematochezia and polyarthritis. Colonic biopsy was suggestive of tuberculosis and Gene-Xpart of sputum showed of multidrug resistant tuberculosis. We are reporting a case presented with hematochezia and poloyarthritis, an unusual presentation who was subsequently diagnosed as a case of multi drug resistant intestinal tuberculosis

Neonatal glycemic status of infants of diabetic mothers in a tertiary care hospital

Background: Diabetes is a common medical complication during pregnancy that results in significant neonatal morbidities. In infants of diabetic mothers (IDMs), hypoglycemia is a common complication. Objective: To study the neonatal hypoglycemia in IDMs in a tertiary care hospital. Settings and Design: A cross-sectional study was done in postnatal ward in Bangladesh Institute of Research and Rehabilitation in Diabetic, Endocrine and Metabolic Disorders from January to December 2009. Subjects and Methods: The data of IDMs were collected from postnatal ward. All IDMs delivered during this period staying in postnatal ward were included in this study. The outcomes were compared between the hypoglycemic and normoglycemic IDMs and between gestational diabetes mellitus (GDM) and pre-GDM in hypoglycemic group using Chi-square test and Fisher's exact test. The data analysis was performed with Epi-enfo7 software. Statistical significance was set at P < 0.05. Results: A total of 363 IDMs were included in this study. Hypoglycemia developed in 38.3% IDMs and 43.2% mothers of hypoglycemic IDMs had GDM and 56.8% had pre-GDM. Duration of maternal diabetes (P = 0.04) and large for gestational age (P = 0.0001) were associated with hypoglycemia. Multigravidae (82.2% vs 68.3%, P = 0.03), prolonged duration of maternal diabetes (45.46 weeks vs 3.23 weeks, P = 0.00001), preterm babies (48.1% vs 28.3% P = 0.009), and control of diabetes by insulin (81% vs 46.7%, P = 0.001) were more in pre-GDM, and statistically significant. About 85% IDMs developed hypoglycemia within 6 h of birth (P-value 0.00001) and majority (68%) were at 2 h of age. Forty percent of hypoglycemic IDMs from postnatal ward were admitted in special care baby unit. Conclusion: Hypoglycemia observed in 38.3% IDMs and developed within 6 h of age and maximum were at 2 h. Early recognition and appropriate intervention are needed in IDMs