Musculoskeletal Diseases in Marfan Syndrome – A Nationwide Registry Study.

BackgroundMarfan syndrome is associated with abnormalities in the musculoskeletal system including scoliosis, pectus deformities, protrusio acetabuli, and foot deformities. Over a life span, many patients with Marfan syndrome will need treatment; however, the musculoskeletal morbidity over a life span is not well described. The aim of the present study was to assess the overall burden of musculoskeletal disease in patients with Marfan syndrome.Materials and MethodsA registry-based, nationwide epidemiological study of patients with a Ghent II verified Marfan syndrome diagnosis from 1977-2014. Each patient was matched on age, and sex with up to 100 controls from the background population.ResultsWe identified 407 patients with Marfan syndrome and 40,700 controls and compared their musculoskeletal diagnoses and surgical treatments using Cox proportional hazards regression (HR). The risk of a registration of a musculoskeletal diagnosis in patients with Marfan syndrome was significantly increased compared to controls (HR: 1.94 (1.69-2.24). One out of six with Marfan syndrome was registered with scoliosis (HR: 36.7 (27.5-48.9). Scoliosis was more common in women with Marfan syndrome compared to men (HR: 4.30 (1.73-1.08)). One out of 11 were registered with a pectus deformity HR: 40.8 (28.1-59.3), and one out of three with a deformity of the foot (HR: 1.9 (1.6-2.3)). The proportion of patients with Marfan syndrome (94/407) that underwent musculoskeletal surgery was also significantly higher (HR: 1.76 (1.43-2.16)). The major areas of surgery were the spine, pectus correction, and surgery of the foot/ancle. Ten patients with Marfan syndrome had elective orthopedic surgery without being recognized and diagnosed with Marfan syndrome until later in life. None of these had scoliosis, pectus deformity or a foot deformity.Among patients with an aortic dissection, the age at dissection was 34.3 years in those with at least one major musculoskeletal abnormality. In patients without a major abnormality the age at dissection was 45.1 years (p<0.01).ConclusionsThe extend of musculoskeletal disease is quite significant in Marfan syndrome and many will need corrective surgery during their life span. Surgeons should be aware of undiagnosed patients with Marfan syndrome when treating patients with a Marfan syndrome like-phenotype.

Isolated Terminal Ileal Mucosal Changes: When is the Bite Indicated?

ABSTRACT Aim: This study aims to determine the clinical presentation, and ileal mucosal changes during colonoscopy for which terminal ileal (TI) biopsies were taken at our center and to determine the specific histopathology which had the best yield for specific colonoscopy findings. Materials and Methods: Retrospective audit of all patients who underwent colonoscopy with ileoscopy between 2012 and 2016. All patients with TI mucosal changes and normal colonic mucosa, who underwent ileal biopsy, were included in this study. Patient data regarding age, gender, indication for ileocolonoscopy (screening for colorectal cancers, inflammatory bowel disease [IBD], or irritable bowel syndrome [IBS]) and histopathology changes were collected. Appropriate statistical tests were used and P < 0.05 was considered statistically significant. Results: One hundred and nine patients had isolated ileal lesions. The median age was 44.1 years (range 8–80 years). Men outnumbered women in a ratio of 82:27. The major clinical indications for ileocolonoscopy were IBS (64.2%), followed by IBD (22%). Ulcers (aphthoid) were the most frequent finding followed by mucosal nodularity and nonspecific findings. Ulcers in ileum were most often reported as chronic ileitis (46.2%), followed by nonspecific changes (35.2%) Biopsy from nodular ileal lesions, were predominantly nonspecific (74.4%), followed by acute (15.4%) and chronic ileitis (10.2%). About 50% of specimens with nonspecific ileal changes had nonspecific histological changes. Ileal ulcers had the highest sensitivity, PPV, and NPV for significant histological findings. Conclusion: Ileal ulcers are the significant colonoscopy findings where tissue biopsy is likely to yield a definitive diagnosis and justify specific management. Biopsies from nonspecific ileal changes and nodularity should be discouraged as it is unlikely to pick up any major abnormality.

Gambaran Morfologi Spermatozoa pada Perokok Sedang di Lingkungan PE Group yang Datang ke Bagian Biologi Fakultas Kedokteran Universitas Andalas

AbstrakTingginya angka pria perokok di seluruh dunia dan fakta bahwa asap rokok mengandung lebih dari 4000 bahan berbahaya yang dapat mengganggu sistem reproduksi. Gangguan yang terjadi dapat berupa penurunan kualitas spermatozoa yang dapat dilihat melalui analisis sperma. Tujuan penelitian ini adalah untuk melihat gambaran morfologi spermatozoa pada Perokok sedang di Lingkungan PE Group. Ini merupakan penelitian deskriptif dari September 2012 hingga 2013, menggunakan metode total sampling sebanyak 33 pria perokok yang mendatangi Laboratorium Biologi Fakultas Kedokteran Universitas Andalas Padang. Parameter kelainan morfologi spermatozoa (teratozoospermia) diukur menurut kriteria WHO yaitu apabila jumlah sperma dengan bentuk normal yang dicacah ≥ 30%. Semua sampel menunjukkan hasil yang normal. Kesimpulan hasil penelitian ini adalah perokok sedang yang diteliti memiliki gambaran morfologi spermatozoa yang normal, dengan abnormalitas kepala sebagai abnormalitas terbanyak dan bentuk kelainan kepala besar sebagai bentuk kelainan yang paling banyak ditemukan.Kata kunci: rokok sigaret, analisis sperma, morfologi sperma, teratozoospermia AbstractThe large number of men worldwide smoke and the fact that cigarette smoke contains detriment substances that can affect the health holistically and especially fertility it self is the main reason. It contains more than four thousands of detrimental substances for instance oxidants, carcinogenic and mutagenic agents. The objective of this study was to evaluate sperm parameters especially it’s morphology among medium smokers in PE Group, ltd. In this descriptive study, started from September 2012 until 2013. A total of thirty three males who were classified as medium smokers were enrolled to Biology Laboratory Medical Faculty of Andalas University Padang. Teratozoospermia parameters were measured according to the World Health Organization criteria and Biology Infertility Division’s in which the normal Sperm morphology counts ≥30%. All of samples showed normal results, with the sperm-head abnormality as the major abnormality. The conclusions is all participants showed normal spermatozoa morphology counts and the head abnormality is the major detriments.Keywords: cigarette smoking, sperm analyzing, sperm morphology, teratozoospermia

Renal Sodium Handling in Children with Nephrotic Syndrome

Background and Objectives: Neprhrotic Syndrome (NS) is a predictable complex with severe, prolonged increase in glomerular permeability for protein leading to hypo-albuminemia. Edema is the other major abnormality; but the underlying mechanism is incompletely resolved. Again during edema formation stage, some of these children express clinical symptoms of hypovolemia, while others do not. The purpose of the study was to identify the NS-children with hypovolemia by measuring the parameters of renal function in respect to their specificity and easy availability. Methods: We studied renal function in 17 children with NS in full blown nephrosis who had come to the Nephrology-Follow up Clinic or the OPD in Dhaka Shishu (Children) Hospital (DSH) and got admitted into the hospital as nephrotic patients with relapses or 1st episodes. The period of study was July 2001 to December 2001 for total period of 6 months. Findings were related to presence or absence of symptoms suggestive of hypovolemia, and were compared to results of similar studies in the same children in remission. Results: Nine children presented with hypovolemic symptoms, and 8 without such symptoms. Both groups displayed severe proteinuria, hypo-albuminemia and edema. Twelve (70.5%) children showed higher blood pressure values in comparision to those of remission. Symptomatic patients showed tendency for a low glomerular filtration rate (GFR), and significantly impaired urine dilution, lower urine-sodium (UNa/Ucr), decreased fractional sodium excretion (FENa), and elevated sodium-potassium exchange quotient, UK/(UK+UNa). In the non-symptomatic patients, these parameters were normal. Conclusions: Among parameters of renal functions,UK/(UK+UNa)-sodium-potassium exchange quotient was found to be the most specific - higher values in hypovolemic patients and lower in patients with stable edema, and in remission too. Ibrahim Cardiac Med J 2013; 3(1&2): 15-20