Osteogenesis Imperfecta (OI) is the most common skeletal dysplasia that predisposes to recurrent fractures and bone deformities. In spite of significant advances in understanding the genetic basis of OI, there have been no large-scale natural history studies. To better understand the natural history and improve the care of patients, a network of Linked Clinical Research Centers (LCRC) was established. Subjects with OI were enrolled in a longitudinal study, and in this report, we present cross-sectional data on the largest cohort of OI subjects (n=544). OI type III subjects had higher prevalence of dentinogenesis imperfecta, severe scoliosis, and long bone deformities as compared to those with OI types I and IV. Whereas the mean LS aBMD was low across all OI subtypes, those with more severe forms had lower bone mass. Molecular testing may help predict the subtype in type I collagen-related OI. Analysis of such well-collected and unbiased data in OI can not only help answer questions that are relevant to patient care but also foster hypothesis-driven research, especially in the context of “phenotypic expansion” driven by next-generation sequencing.
There is increased concern about excessive sound exposure, especially in students, resulting from the use of Ipods and similar devices. Such exposure needs to be considered in light of the daily noise dose such users experience. In this study five university students wore noise dosimeters for 10 h per day for 5 days, and noise levels were recorded every minute. The students also maintained a diary of their activities (activities were noted at least every half hour) during the time they wore the noise dosimeters. The diary was standardized so that each student used the same diary format. Results indicating the noise levels, noise dose, and the relationship of the levels to the students activities will be presented and discussed. In general the noise exposure experienced by these students was usually mild (less than 60 dBA) to moderate (between 60 and 75 dBA).
Introduction Stillbirth is a global health problem having many emotional, social and economic consequences. India has the largest number of stillbirths per year in the world. Objective The objective of this study is to review the causes of stillbirth and classify the causes into maternal, foetal and placental causes and further classify causes by relevant condition at death (ReCoDe) classification. We intend to observe the causes of and demographic factors contributing to the burden of stillbirths. Using this data, the areas of action can be identified and measures can be formulated to reduce a significant number of perinatal mortalities. Methodology This is an observational study of data collected over one year (January 2019-December 2019) from a tertiary care centre in Mumbai, India. The maternal demographic characteristics and causes of stillbirth were studied. The causes of stillbirths were classified into maternal, foetal and placental causes and relevant condition at death (ReCoDe) classification [1]. Results A total of 9074 babies were delivered during this period. There were 275 stillbirths in this year (SBR 30.3 per 1000 total births). Majority of the mothers were in the age group of 26-30 years (32.7%). Almost all the mothers (98.5%) were from urban areas. As per the modified Kuppuswamy classification for urban India, 195 (71.79%) belonged to the upper lower class. 31.2% were primigravidae, and 54.8% had 3 or more antenatal visits. Maternal conditions (pre-eclampsia, diabetes, pre-existing medical disorders) as a group were the cause of maximum number (42%) of stillbirths either directly or as a contributory risk factor. 78% of the stillbirths occurred in the antepartum period. Ours being a referral centre, 65% subjects in the study were referred to us from other peripheral hospitals. 53.8% of the stillborn babies were male. 58.9% were
Introduction Bilateral adrenal hemorrhage (BAH) has been noted in several conditions. Bilateral adrenal infarcts (BAI) are rarer but have been seen in anti-phospholipid syndrome (APS). Adrenal insults are not commonly associated with myelodysplastic syndrome (MDS). We present a patient who developed BAI as initial presentation of APS in the setting of MDS and discuss management considerations. Case A 58-year-old female with MDS diagnosed one month prior presented with abdominal pain, present for one year but acutely worse in the past week. CT A/P showed nodularity of bilateral adrenal glands. She was treated conservatively but continued to experience nausea, vomiting, and abdominal pain – repeat CT A/P one month later was suspicious for bilateral peri-adrenal hemorrhages. MRI with adrenal protocol demonstrated bilateral non-hemorrhagic adrenal infarcts. VS were negative for hypothermia or hypotension. Labs showed Na 136 (135-145 mmol/L), K 3.5 (3.4-5.1 mmol/L), BG 108 (mg/dL), DHEA-S 9.3 (8.0-391 mcg/dL), renin 6.7 (0.5-4.0 ng/mL/hr), aldosterone 6.2 (<31.0 ng/dL), 60-minute cortisol after ACTH stimulation test 34.3 (5.2-22.5 mcg/dL), plasma metanephrines <0.10 (0.00-0.49 nmol/L), plasma normetanephrines 0.34 (0.00-0.89 nmol/L), Hgb 11.8 (12.0-15.5 g/dL), and plts 129K (140-450 K/mcL). No history of anticoagulant use, trauma, or VTE. COVID-19 PCR was negative on two separate tests. Hypercoagulability testing noted positive lupus anticoagulant. Anticoagulation was deferred due to underlying bone marrow abnormalities and thrombocytopenia; aspirin was recommended instead by hematology. Outpatient testing revealed 12pm cortisol of 12.6 (5.2-22.5 mcg/dL), ACTH 108.3 (7.2-63.0 pg/mL), and DHEA-S 6.2 (8.0-391 mcg/dL). Patient was empirically started on hydrocortisone for glucocorticoid replacement therapy. Conclusion BAI is not typically associated with MDS but can occur in the setting of a concurrent hypercoagulable process such as APS. The adrenal glands are the most commonly involved glands in APS. Patients often present in adrenal crisis but can present in stable condition as in this case. The adrenal glands are particularly vulnerable due to the "vascular dam" near the zona reticularis. Imaging and laboratory investigation can clarify the nature of the adrenal insult and guide management. Treatment strategy may include anticoagulation to prevent further VTE events, but bleeding risk must be considered. Both glucocorticoid and mineralocorticoid replacement should be considered until residual adrenal reserve can be fully elucidated, which may take several months from initial diagnosis. References Rao RH. Bilateral massive adrenal hemorrhage. Med Clin North Am 1995; 79(1): 107-29. Aron DC, Findling JW, Tyrrell JB. Glucocorticoids and adrenal androgens. In: Greenspan's Basic and Clinical Endocrinology. Gardner DG, Shoback D (eds). Mc Graw Hill 2007; pp 367-378. Caron P, Chabannier MH, Cambus JP, Fortenfant F, Otal P, Suc JM. Definitive adrenal insufficiency due to bilateral adrenal hemorrhage and primary antiphospholipid syndrome. J Clin Endocrinol Metab 1998; 83(5): 1437-9. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
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