RESUMEN
Osler-Weber-Rendu syndrome or Hereditary Haemorrhagic Telangiectasia (HHT) is a rare condition, with very few reported cases, especially in Pakistan. As healthcare workers, we encounter multiple cases of recurrent epistaxis in the emergency as well as outpatient departments. However, patients are usually treated symptomatically without a thorough workup. HHT should be considered among the differentials for recurrent epistaxis, as a clinical diagnosis can be made with detailed family history and physical examination. Here is the case of a 58-year-old male who presented to the Gastroenterology OPD, Combined Military Hospital, Lahore, in November 2021, with complaints of generalised weakness and blood in stools. He had a history of recurrent epistaxis and telangiectasias, and further inquiry revealed a strong family history of similar symptoms. He was diagnosed as a case of Osler-Weber- Rendu Syndrome. Informed consent was taken from the patient prior to the writing of the manuscript.
Asunto(s)
Epistaxis , Recurrencia , Telangiectasia Hemorrágica Hereditaria , Humanos , Telangiectasia Hemorrágica Hereditaria/diagnóstico , Telangiectasia Hemorrágica Hereditaria/genética , Telangiectasia Hemorrágica Hereditaria/complicaciones , Masculino , Epistaxis/etiología , Epistaxis/diagnóstico , Persona de Mediana Edad , PakistánRESUMEN
This study was conducted to assess the level of awareness about sexually transmitted diseases in females of different age groups and to investigate the role that education and social status may play in their knowledge. It was a cross-sectional study, conducted at the CMH Lahore's Gynaecology and Obstetrics out-patient department, from June 2019 till July 2019. Three hundred and thirty-seven participants were interviewed, after obtaining a written informed consent. These participants were females who presented at the CMH Gynaecology & Obstetrics OPD, with any particular complaint. Those who did not give consent were not included in the study. The participants were given a hard copy of the questionnaire to fill and any queries that they had were answered on the spot. Data was analysed using SPSS version 23. Of the 337 participants interviewed, 158 were aged 26-35 years; 71 were undergraduates and 99 had completed post graduate studies. To determine their socioeconomic status, they were asked about their family income; 205 participants belonged to families with an income of less than Rs50,000. Most participants (229) had presented to the OPD for a routine pregnancy check-up. Of the 337 participants, 244 attested to know about STD's and the most common source of their knowledge was through TV (142), followed by the internet (137); 251 participants were familiar with limited STDs such as AIDS and Hepatitis B. The study showed that age, level of education, and income have a profound effect on the knowledge regarding sexually transmitted diseases amongst the women in Pakistan.
Asunto(s)
Hepatitis B , Enfermedades de Transmisión Sexual , Adulto , Estudios Transversales , Escolaridad , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos , Embarazo , Conducta Sexual , Enfermedades de Transmisión Sexual/epidemiología , Encuestas y CuestionariosRESUMEN
Congenital leptin deficiency, a rare genetic disorder due to a homozygous mutation in the leptin gene (LEP), is accompanied by extreme obesity and hyperphagia. A number of gastrointestinal hormones have been shown to critically regulate food intake but their physiological role in hyperphagic response in congenital leptin deficiency has not been elucidated. This study is the first to evaluate the fasting and postprandial profiles of gut-derived hormones in homozygous and heterozygous carriers of LEP mutation. The study subjects from two consanguineous families consisted of five homozygous and eight heterozygous carriers of LEP mutation, c.398delG. Ten wild-type normal-weight subjects served as controls. Fasting and 1-h postprandial plasma ghrelin, glucagon-like peptide (GLP) 1, peptide YY (PYY), leptin and insulin levels were measured by immunoassays. Fasting plasma ghrelin levels in homozygotes remained remarkably unchanged following food consumption (P = 0.33) in contrast to a significant decline in heterozygous (P < 0.03) and normal (P < 0.02) subjects. A significant postprandial increase in PYY was observed in heterozygous (P < 0.02) and control subjects (P < 0.01), but not in the homozygous group (P = 0.22). A postprandial rise in GLP-1 levels was significant (P < 0.02) in all groups. Interestingly, fasting leptin levels in heterozygotes were not significantly different from controls and did not change significantly following meal. Our results demonstrate that gut hormones play little or no physiological role in driving the hyperphagic response of leptin-deficient subjects. In contrast, fasting and postprandial levels of gut hormones in heterozygous mutation carriers were comparable to those of normal-weight controls.