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Lyng Keegan posted an update 1 year, 6 months ago
Human papillomavirus (HPV)-related multiphenotypic sinonasal carcinoma (HMSC), is a new entity that is restricted to the sinonasal tract and is associated with high-risk HPV. This tumor is suggested to have an indolent behavior with a better prognosis than other carcinomas. We report a unique case of HMSC with a locally aggressive behavior. It is about a 61-year-old men presented with 12 months of unilateral progressive olfactory dysfunction accompanied by exophthalmia of the left eye, declining vision and headaches for 6 months. Computed tomography imaging revealed a voluminous mass occupying the ethmoid, maxillary and frontal sinus with bony destruction of the left ethmoidal blade. Histology showed a tumor composed of variably sized nests, separated by thick mucoid stroma. Tumor cells are plasmacytoid with hyperchromatic nuclei and frequent mitoses. Immunohistochemistry revealed that these cells were positive for cytokeratin AE1/AE3, p16 and negative for CK7, CK20, CD117, p40, p63, S100, synaptophysin and chromogranin.Hyperreactio luteinalis (HL) is a rare entity in which both ovaries are multicystic and enlarged under the action of human chorionic gonadotropin (hCG), mostly seen in the third trimester of pregnancy. This benign condition is usually asymptomatic and doesn’t need any specific treatment, as the ovaries spontaneously reduce in size after birth. This is a case report of a 33-year-old woman diagnosed with hyperreactio luteinalis during the second trimester of her induced pregnancy. An ultrasound scan at 22 weeks of gestation revealed bilateral multicystic enlarged ovaries along with multiple fetal malformations and hydropsfetalis. Usually, HL is most commonly seen in situations in which there are high levels of hCG, but our patient had normal levels of hCG during all her pregnancy, which makes our case even rarer. In conclusion, the most important challenge when faced with HL is to differentiate between it and other differential diagnosis especially malignant tumors, because unlike them, this benign condition doesn’t need surgical treatment.Niacin or tryptophan deficiency causes pellagra. Isoniazid interferes with the absorption of niacin and individuals on Isoniazid (INH) are at risk of pellagra. Isoniazid preventive therapy (IPT) is the administration of isoniazid to immunosuppressed individuals to prevent active tuberculosis (TB). IPT, in sub-Saharan Africa, the region worst hit by HIV and with a high TB prevalence, is recommended. A 40-year-old, HIV+ Zambian woman on Antiretroviral therapy for five years and IPT for three months presented with a four-day history of constipation, generalised body weakness and irrelevant talk. She complained of a generalised rash, sloughing off, and darkening of the skin on the face, neck, forearms, and dorsum of both feet. A physical examination revealed features of pellagra, and rapid response to oral niacin reaffirmed the diagnosis of pellagra. Unlike typical cases of pellagra presenting with the classic 3 Ds of Diarrhoea, Dementia and Dermatitis, our patient presented with constipation instead of diarrhoea. A consideration of Pellagra in HIV+ patients on IPT whose diet is mostly maize-based will be beneficial, even if the classic 3 Ds of diarrhoea, dementia, and dermatitis are not wholly present. A timely diagnosis and prompt treatment of pellagra can be lifesaving.
Fanconi anemia (FA) is a rare inherited hematological disease due to a defect in the DNA repair pathway resulting in congenital abnormalities and high susceptibility to develop cancers. The cytogenetic analysis using alkylating agents is still a reference test to establish the diagnosis. Despite the genetic heterogeneity, the identification of the causal mutation is actually performed especially after the development of next generation sequencing (NGS).
we report here nine Moroccan patients referred to the department of Medical Genetics for suspicion of FA. We realized a genetic consultation to establish a clinical record with biological data before carrying out the genetic analysis. Karyotyping with mitomycin was performed for all the probands before elaborating molecular study. We used massively parallel sequencing to analyse the three most frequent mutated genes FANCA, FANCC, and FANCG, representing 84% of all genes involved in FA.
all the patients showed hematological signs associated with at least one extra-hematological congenital anomaly. The chromosomal breaks were significantly higher for the nine patients, compared to the controls. The molecular diagnosis was confirmed in 8 of the 9 families tested (88.8%) with 4 novel mutations. The next generation based sequencing identified 9 variations 6 in the FANCA gene (66.6%), 3 in the FANCG gene (33.3%) and no FANCC variation was found. Of those, 7 were homozygous and 2 were compounds heterozygous.
to the best of our knowledge, this is the first molecular report of Moroccan patients with FA suggesting the predominance of two genes without any recurrent mutation. The molecular analysis of FANCA and FANCG genes should be offered first for all patients in Morocco.
to the best of our knowledge, this is the first molecular report of Moroccan patients with FA suggesting the predominance of two genes without any recurrent mutation. The molecular analysis of FANCA and FANCG genes should be offered first for all patients in Morocco.We here report a case of embryonal paratesticular rhabdomyosarcoma in a young adult. The purpose of this study is to highlight this uncommon histological type of tumor in this age group, the rapid evolution of the lesion and the challenges of managing it in our context.
low back pain (LBP) during pregnancy is an important health concern among women globally. The prevalence and risk factors for LBP in pregnancy vary from and within sub-regions and have implications in preventive and treatment strategies. In West African sub-region, there is scanty data on LBP during pregnancy. This study aimed to determine the prevalence and predisposing factors for LBP during pregnancy in this environment.
this was a cross-sectional study carried out among pregnant women admitted into the Labour Ward of Alex Ekwueme Federal University Teaching Hospital, Abakaliki, Nigeria over a period of 8 months. They were interviewed within 2 to 7 days postpartum with a questionnaire. Sociodemographic and obstetrics characteristics as well as LBP intensity, features and associated factors were evaluated. Significant factors for LBP that emerged from the univariable analysis were entered into multivariable regression analysis to evaluate the risk of each factor when adjusted to other factors.
of the rities accorded to women with these factors in measures aimed at addressing LBP during pregnancy.
globally, almost half of all deaths in children under five years of age occur among neonates. We investigated the predictors of mortality within 28 days among preterm infants at a tertiary hospital in Lusaka, Zambia.
we reviewed admission records linked to birth, mortality, and hospital discharge from 1
January 2018 to 30
September 2019. Information was retrieved with a follow-up period of 28 days post-delivery to discharge/mortality. We used the Weibull hazards regression to establish the best predictor model for mortality among the neonates.
a total of 3237 case records of women with a median age of 27 years (IQR, 22-33) were included in the study, of which 971 (30%) delivered term infants and 2267 (70%) preterm infants. selleck The overall median survival time of the infants was 98 hours (IQR, 34-360). Preterm birth was not associated with increased hazards of mortality compared to term birth (p=0.078). Being in the Kangaroo Mother Care compared to Neonatal Intensive Care Unit (NICU), and a unit increase in birth weight were independently associated with reduced hazards of mortality. On the other hand, having hypoxic-ischemic encephalopathy, experiencing difficulty in feeding and vaginal delivery compared to caesarean section independently increased the hazards of mortality.
having hypoxic-ischemic encephalopathy, vaginal delivery, and experiencing difficulty in feeding increases the risk of mortality among neonates. link2 Interventions to reduce neonatal mortality should be directed on these factors in this setting.
having hypoxic-ischemic encephalopathy, vaginal delivery, and experiencing difficulty in feeding increases the risk of mortality among neonates. Interventions to reduce neonatal mortality should be directed on these factors in this setting.Free movement between countries without a visa is allowed within the 15-country Economic Community of West African States (ECOWAS) region. However, little information is available across the region on the International Health Regulation (IHR 2005) capacities at points of entry (PoE) to detect and respond appropriately to public health emergencies such as Coronavirus Disease 2019 (COVID-19). ECOWAS and the member states can better tailor border health measures across the region by understanding public health strengths and priorities for improvement at PoEs. A comprehensive literature review was combined with a self-assessment of capacities at PoEs across the fifteen member states from February to July 2020. For the assessment, the member states completed an adapted World Health Organization (WHO) self-assessment checklist by classifying capacity for seven domains as fully, partially, or not implemented. The team implemented three focus group discussion (FGD) sessions and 13 key informant interviews (KII) with ection prevention and control specialists and field epidemiologists. However, political instabilities in some countries pose a threat to government commitments to PoE activities. The capacity to respond to public health emergencies at PoE in the ECOWAS region is still below IHR standard. Public health capacities at a majority of IHR-designated PoE in the 15-country region do not meet required core capacities standards.This study aims to describe longitudinally the current invasive and non-invasive ventilation practices in premature infants in a single neonatal intensive care unit (NICU). It´s a retrospective chart review including 682 babies born at gestational age ≤35 weeks, admitted to the NICU at Erasme Hospital, between 1st of January 2001 and 31st of December 2011, the different ventilatory support used were analyzed. This population was stratified depending on gestational age and the recruitment period on 3 groups. All infants born less then 28 weeks of GA (group 1) needed some kind of respiratory support of which 22% non-invasive. Among babies born after 28 to 31 weeks (group 2), 10.2% didn´t need any ventilatory support and 42% needed a non-invasive respiratory support. In neonates from 32 to 35 weeks of GA (group 3) respiratory support was needed in 34.9%, 65% of which was non-invasive. link3 The median duration of endotracheal ventilation was 6, 1 and 2 days, and of non-invasive support 41, 17 and 2 days in group 1, 2 and 3 respectively. One single premature baby could pass along the first weeks through all modes. In premature infants whose respiratory support was needed, the median age at the end of support was remarkably constant at 33 – 34 weeks of corrected age. We conclude that is an important diversity and a significant complementarity between modes of respiratory support for premature infants. Invasive ventilation decreased significantly for group 2, but is still remarkably long for group 1.
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