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BACKGROUND: Bardet-Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod-cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity, and hypogonadism. Many minor features that are related with Bardet-Biedl syndrome might aid in diagnosis and are crucial in clinical management. Bardet-Biedl syndrome is diagnosed on the basis of clinical signs and symptoms, which can be confirmed by genetic testing. Here we present four cases of Bardet-Biedl syndrome. To our knowledge, these are the first cases of Bardet-Biedl syndrome reported from Sudan. CASE PRESENTATION: Here, we report four Sudanese patients who presented with a variety of clinical manifestations of Bardet-Biedl syndrome (two males, 50 and 16 years old; two females, 38 and 18 years old). The first two patients presented with features of chronic kidney disease. The third patient had recently been diagnosed with type 1 diabetes and diabetic ketoacidosis. The fourth patient showed signs of retinal dystrophy early on. Case 1: a 38-year-old female presented with vomiting and irritability; the patient was diagnosed with Bardet-Biedl syndrome as she fulfilled six items of the primary features (obesity, retinitis pigmentosa, post-axial polydactyly, renal abnormalities, learning disabilities, and genitourinary malformations), as well as one secondary feature (cardiovascular involvement, that is, left ventricular hypertrophy). Case 2: a 50-year-old male presented with fatigability; the patient was diagnosed with Bardet-Biedl syndrome as he fulfilled four items of the primary features (obesity, retinitis pigmentosa, post-axial polydactyly, and renal abnormalities) in addition to two secondary features (diabetes mellitus and cardiovascular involvement, that is, left ventricular hypertrophy). Case 3: an 18-year-old female presented with polyuria, polydipsia, weight loss, and epigastric pain for 2 days; the patient was diagnosed with Bardet-Biedl syndrome because he had four major features (retinal dystrophy, post-axial polydactyly, obesity, and learning disabilities) in addition to three secondary features (developmental delay, diabetes mellitus, and strabismus). Case 4: a 16-year-old male presented with a blurring of vision; the patient was diagnosed with Bardet-Biedl syndrome as he exhibited four major features (retinal dystrophy, post-axial polydactyly, obesity, and learning disabilities) plus two secondary features (developmental delay and cataract). CONCLUSION: The scarcity of Bardet-Biedl syndrome necessitates a high index of suspicion to diagnose this syndrome. Increased awareness among physicians is required for the early diagnosis and treatment of Bardet-Biedl syndrome and to avoid complications and mortality.
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Síndrome de Bardet-Biedl , Deficiências da Aprendizagem , Polidactilia , Retinose Pigmentar , Adolescente , Adulto , Síndrome de Bardet-Biedl/complicações , Síndrome de Bardet-Biedl/diagnóstico , Feminino , Dedos/anormalidades , Humanos , Hipertrofia Ventricular Esquerda/complicações , Rim/anormalidades , Deficiências da Aprendizagem/complicações , Masculino , Pessoa de Meia-Idade , Obesidade/complicações , Polidactilia/complicações , Polidactilia/diagnóstico , Dedos do Pé/anormalidades , Anormalidades UrogenitaisRESUMO
Frank' sign or diagonal earlobe crease (DELC) is a diagonal earlobe crease that extends backwards from the tragus at an angle of 45 degree across the lobule to the ear edge of the auricle. It has been described as a dermatological marker for coronary artery disease. Frank's sign is a useful clinical sign for coronary artery disease. Inspection of the earlobes should be considered as integral part of the physical examination in clinical practice for patients with suspected coronary artery disease.
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BACKGROUND: Acute myocardial infarction in patients with type two diabetes mellitus is usually present with multiple vessel lesions during coronary angiography. The underlying mechanism remains unexplored, and there is a deficiency of serum predictive markers. Glycosylated hemoglobin (HbA1c), which is a critical measure of glycemic control, could be used as a reliable predictor of the severity of ACS. MATERIALS AND METHODS: This is a prospective descriptive comparative hospital-based study measured the correlation between levels of HbA1c and the severity of ACS using the modified Gensini score (MGS). A total of 85 patients were enrolled in this study in the period between September and November 2019. The MGS depends on the number of vessels which are stenosed with the degree of stenosis more than 50% of their lumen. Data was analyzed using SPSS V. 2018. Chi-square test was used. RESULTS: The total number of enrolled patients was 85. Dyslipidemia was found among 63 (74.1%) patients, and 52 (69.4%) of the patients were noted to have hypertension. A total of 19 (22.4%) patients were smokers. About 59 (69.4%) patients had a family history of IHD, and 22 patients (25.9%) had a history of IHD. STEMI was the main ECG finding 54 (63.5%). Modified Gensini score depicted that 32 (35.29%) had mild acute coronary syndrome, 23(27.06%) had moderate, and 30 (37.65%) had severe acute coronary syndrome. HbA1c was significantly positively correlated with the severity of ACS among diabetic patients (P value = 0.000). CONCLUSION: In diabetic patients with acute coronary syndrome, HbA1c levels can be used as a predictor for the severity of CAD.
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Síndrome Coronariana Aguda/sangue , Síndrome Coronariana Aguda/diagnóstico , Biomarcadores/sangue , Hemoglobinas Glicadas/uso terapêutico , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
The incidence and mortality of COVID-19, according to the World Health Organization reports, shows a noticeable difference between North America, Western Europe, and South Asia on one hand and most African countries on the other hand, especially the malaria-endemic countries. Although this observation could be attributed to limited testing capacity, mitigation tools adopted and cultural habits, many theories have been postulated to explain this difference in prevalence and mortality. Because death tends to occur more in elders, both the role of demography, and how the age structure of a population may contribute to the difference in mortality rate between countries were discussed. The variable distribution of the ACEI/D and the ACE2 (C1173T substitution) polymorphisms has been postulated to explain this variable prevalence. Up-to-date data regarding the role of hydroxychloroquine (HCQ) and chloroquine (CQ) in COVID-19 have been summarized. The article also sheds lights on how the similarity of malaria and COVID-19 symptoms can lead to misdiagnosis of one disease for the other or overlooking the possibility of co-infection. As the COVID-19 pandemic threatens the delivery of malaria services, such as the distribution of insecticide-treated nets (ITNs), indoor residual spraying, as well as malaria chemoprevention there is an urgent need for rapid and effective responses to avoid malaria outbreaks.
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COVID-19/epidemiologia , Malária/epidemiologia , SARS-CoV-2 , Fatores Etários , Enzima de Conversão de Angiotensina 2/fisiologia , COVID-19/diagnóstico , Cloroquina/uso terapêutico , Humanos , Hidroxicloroquina/uso terapêutico , Interferons/fisiologia , Malária/diagnóstico , Malária/tratamento farmacológico , Prevalência , Tratamento Farmacológico da COVID-19RESUMO
BACKGROUND: Coronary interventions in patients of achondroplasia have been reported rarely in the medical literature. Due to short stature and kyphoscoliosis, endovascular access (Cannulation) of the coronary arteries is usually extremely difficult in such patients. CASE PRESENTATION: A 33 years old patient, a known case of achondroplasia, presented with epigastric pain for 3 h duration to a university hospital, Sudan. Her height was 95 cm and her weight was 38 Kg. A trans-femoral approach for coronary angioplasty was preferred. After it has been extremely difficult to cannulate the left system at first, the cannulation has been performed successfully using 5F, JL3.5 catheter. The angiogram depicted total occlusion of the proximal right coronary artery which was found to be originating from the left coronary sinus of the aorta. Successful trans-femoral coronary angioplasty has been performed with stent placement, and no complications encountered. During her last follow up, 1 year after the procedure, she appeared to be free of symptoms and with no further ischemic attacks or procedure-related complications. CONCLUSIONS: To the best of our knowledge, this is the first reported case of successful coronary angioplasty in achondroplasia patient in whom the occluded artery is an anomalous coronary artery. Literature review, description of the achondroplasia, development of the coronary arteries and the hypothesized theory for the anomaly have been described in this case report. The PCI performed has also been clearly and comprehensively described.
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Acondroplasia/complicações , Angioplastia Coronária com Balão , Anomalias dos Vasos Coronários/complicações , Acondroplasia/diagnóstico , Adulto , Angioplastia Coronária com Balão/instrumentação , Angiografia Coronária , Oclusão Coronária/diagnóstico por imagem , Oclusão Coronária/etiologia , Anomalias dos Vasos Coronários/diagnóstico por imagem , Stents Farmacológicos , Feminino , Humanos , Resultado do TratamentoRESUMO
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) also known as Osler-Weber-Rendu syndrome is a rare autosomal dominant disorder, which results in vascular dysplasia affecting mainly visceral and mucocutaneous organs. Case Presentation. A 65-year-old woman with a 12-year history of recurrent spontaneous epistaxis presented with shortness of breath, easy fatigability, and bilateral lower limb edema. Her family history was significant for definite hereditary hemorrhagic telangiectasia in first-degree relatives. During the previous 15 days, she has experienced three episodes of recurrent nasal bleeding. She has a background of chronic mitral regurgitation. Physical examination revealed telangiectases in her tongue, lower lip, and hand in addition to signs of congestive heart failure. The patient met 3\4 Curacao criteria and had a definite HHT. Her laboratory workup revealed a hemoglobin count of 5.4 g/dl. Echocardiography revealed a left systolic ejection fraction of 51% with left atrial dilatation and severe mitral regurgitation. Chest X-ray showed features of cardiomegaly and pulmonary edema. The abdominal ultrasonography showed enlarged liver size with homogenous texture and congested hepatic veins without features of hepatic AVMs. She was treated with intravenous frusemide, iron supplement, tranexamic acid, blood transfusion, and nasal packing. CONCLUSIONS: HTT usually passes unnoticed in Sudan. The rarity of HHT, difficulties in affording diagnostic imaging studies, and low clinical suspicion among doctors are important contributing factors. Anemia resulting from recurrent epistaxis might have an influential role in precipitating acute heart failure in those with chronic rheumatic valvular disease.