Fibrodysplasia Ossificans Progressiva in three Filipino children

@#Fibrodysplasia ossificans progressiva (FOP) is a debilitating, rare, autosomal dominant disorder of connective tissue characterized by malformed great toes and by progressive endochondral ossification of extra-skeletal sites (e.g., muscles, tendons, fascia) triggered by trauma, soft tissue injury, muscle fatigue, or viral infections. We present three children affected with FOP with this classic clinical presentation, the first reported cases in the Philippines, thus extending the range of classic FOP to new geographic and ethnic locations. Two of the affected children are siblings who have the common ACVR1 R206H mutation associated with classic FOP; this mutation was not found in their parents who are phenotypically unaffected, providing evidence of germline mosaicism in FOP. To our knowledge, this is the first family with genetic testing done showing presence of the classic mutation in affected siblings not seen in the unaffected parents.

Study of treatment outcomes in tuberculosis patients on DOTS therapy at five centres in Goa.

Background: The objective was to study the treatment outcomes in tuberculosis patients on DOTS therapy in five centres in Goa in terms of cure rates, treatment completion rates, unfavourable outcomes and factors responsible for unfavorable outcomes. Methods: Study setting: It was a facility based study at five DOTS centres from the Panaji Tuberculosis Unit (TU). Study design: prospective follow up design was used for the study. Study subjects: All patients registered at the selected five DOTS centres for DOTS therapy under RNTCP in the period from 1st April 2011 to 31st December 2011 were selected as study subjects and followed prospectively for a period of nine months till 30th September 2012. Study instruments: data was collected from patients by personal interview and a pretested structured questionnaire. Data was also obtained from patient treatment cards and by interviewing the DOTS provider. Statistical analysis: Data was analysed using SPSS software. The statistical tests used were frequencies, descriptive, Chi square test, odds ratio and logistic regression analysis. Results: Overall 42.9% of the patients were declared cured, 42.3% had treatment completed as the outcome, 4.9% were defaulters, 2.7% patients died, 1.6% were classified as treatment failure, 2.2% were transferred out and 0.5% of the patients were shifted to Non-DOTS treatment regimen while in 2.7% of the patients treatment outcome was not available. Presence of diabetes mellitus, hypertension and alcohol use were found to be significantly associated with unfavourable outcomes in Tuberculosis patients on DOTS. Conclusions: Patients with alcohol addiction and concomitant hypertension were found to have higher levels of un-favourable outcomes; therefore such patients require continuous monitoring and support to ensure treatment success.

Laparoscopic ovarian ligament plication in pregnancy / Plicatura laparoscópica del ligamento ovárico en el embarazo

This 32-year old patient presented at seven weeks gestation with severe left-sided lower abdominal pain. This was against the background of a previous history of left salpingectomy from a ruptured ectopic gestation seven years previously. Transvaginal sonographic evaluation revealed a viable seven week intrauterine embryo, a 2 cm left corpus luteum cyst and Doppler studies revealed reduced internal flow. This led the way for a conservative approach via laparoscopy of untwisting the pedicle to restore blood flow. In this case, the ovarian ligament was shorted using 1/0 vicryl and the pregnancy went to term.

Esta paciente de 32 años se presentó en la séptima semana de gestación con un severo dolor abdominal en el lado inferior izquierdo. Esto ocuría teniendo la paciente por antecedente una historia previa de salpingectomía izquierda a partir de la ruptura de un embarazo ectópico siete años antes. La evaluación sonográfica transvaginal reveló un embrión intrauterino viable de siete semanas, un quiste del 2 cm en el cuerpo lúteo izquierdo, y los estudios de Doppler revelaron un flujo interno reducido. Esto abrió el camino para un abordaje conservador vía laparoscopia encaminada a deshacer la torsión del pedículo y restablecer así el flujo sanguíneo. En este caso, el ligamento ovárico fue acortado usando vicryl 1/0, y el embarazo continuó a término.

Postprandial effect of Orlistat on the peaking of lipid level after sequential high fat meals

Postprandial lipemia has been found to be strongly associated with atherosclerosis due to its atherogenic and thrombogenic lipoprotein changes. This phenomenon occurs even in normal subjects especially after high fat meals. Orlistat, an anti- obesity drug, has been shown to address postprandial lipemia after a single high fat meal. To compare the effects of orlistat and placebo on the postprandial lipid levels after sequential high-fat meals in healthy individuals with normal fasting lipid levels. Thirty-one healthy adult volunteers with normal fasting lipid levels were fed 50% fat meals [3 meals and 2 snacks of pre-weighted butter and bread]. The subjects were blindly randomized to receive either placebo or orlistat 120 mg before each main meal. The outcome parameters were total cholesterol [TC], triglyceride [TG], high-density lipoprotein [HDL] cholesterol, low-density lipoprotein [LDL] cholesterol, and very-low-density lipoprotein [VLDL] cholesterol levels measured at fasting [0 h] and every 2 h thereafter, until the sixteenth hour. Additionally, we estimated the lipid levels at the fifth and ninth hour. The non-orlistat group showed a significant postprandial rise in the levels of TG and VLDL, which began 4 h after breakfast [P < 0.05]; this rise in levels was sustained until 9 h after breakfast for TG and up to 10 h after breakfast for VLDL. In contrast, only one significant rise in both TG and VLDL levels [at 4 h after breakfast] was noted in the orlistat group. The maximum mean difference from the baseline TG level for the orlistat group was lower than that for the non-orlistat group [0.22 mmol/L vs. 0.756 mmol/L, respectively]. Similarly, the maximum mean difference from the baseline VLDL level from baseline in the orlistat group was only 0.099 mmol/L, which was lower than that in the non-orlistat group [0.588 mmol/L]. LDL levels rose to a lesser extent in the orlistat group than in the non-orlistat group [0.268 vs. 0.362 mmol/L]. The TC levels did not show a postprandial rise; instead, the levels reduced in both groups, with the orlistat group showing a higher reduction than the non-orlistat group [-0.288 vs. -0.188 mmol/L]. The orlistat group did not show any significant differences in the HDL measurements. Administration of orlistat abolished the significantly sustained postprandial rise of TG and VLDL levels in healthy individuals who were fed sequential 50% fat meals

Extrahepatic biliary atresia

Extrahepatic biliary atresia is a disease of unknown cause, leading to profound cholestasis and progressive biliary cirrhosis. This paper discusses the diagnosis and management of this condition. It is stressed that bile flow can be established in 80-90% of infants referred to surgery within 60 days afterbirth, Liver transplantation is essential for infants who are referred late [120 days of age or later]; those whose initial portoenterostomy was not successful, and those who develop end-stage liver disease in spite of bile drainage