scholarly journals Clinical and Laboratory Characteristics of a Large Iranian Kindred Afflicted with Von Hippel Lindau Disease

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Ali Asghar Mir Saeid Ghazi ◽  
Atieh Amouzegar ◽  
Azita Zadeh-Vakili ◽  
Abdolreza Sheikh Rezaei ◽  
Alireza Amirbaigloo ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Malignant Tumors ◽  
Positive Family History ◽  
Clinical Findings ◽  
Kidney Tumors ◽  
Genetic Characteristics ◽  
Von Hippel Lindau ◽  
Study Results ◽  
History Of ◽  
Retinal Hemangioblastoma

Introduction: Von Hippel Lindau (VHL) disease is a hereditary disorder characterized by the development of benign or malignant tumors in the brain, spinal cord, eyes, adrenal medulla, kidney, pancreas, and many other organs. Advances in molecular diagnosis have led to the identification of the affected members of families at earlier stages. We present the clinical, laboratory, and genetic characteristics of five generations of large Iranian kindred with VHL. Case Presentation: The proband, a 52-year-old Iranian man, was recognized with VHL. All family members underwent clinical, laboratory, imaging, and genetic evaluation. Medical files and histopathology reports of patients who had been operated on before were also reviewed. Diagnosis of the disease was based on clinical findings, positive family history of VHL, and development of a central nervous system or retinal hemangioblastoma or pheochromocytoma. Based on diagnostic criteria, our initial evaluations revealed that 10 members of the family had already been affected by the disease. Among them, nine had pheochromocytoma, and one had retinal hemangioblastoma. There was no case of kidney tumors among the kindred. Conclusions: Study results show the high penetrance of the disease and focus on the large burden imposed by the disease on the health and quality of life of patients afflicted with the disease, emphasizing the importance of surveillance from early childhood for detection and management of the disease as early as possible.

CAT SCRATCH SYNDROME

PEDIATRICS ◽  
1952 ◽  
Vol 10 (3) ◽  
pp. 311-318
Author(s):  
WILLIAM J. WATERS ◽  
SEYMOUR S. KALTER ◽  
JOHN T. PRIOR
Keyword(s):  
Skin Test ◽  
Laboratory Tests ◽  
Complement Fixation Test ◽  
Complement Fixation ◽  
Clinical Laboratory ◽  
Clinical Course ◽  
Diagnostic Value ◽  
Clinical Findings ◽  
Pathologic Findings ◽  
History Of

The clinical, laboratory and pathologic findings of a series of cases of cat scratch syndrome have been reviewed. In spite of a variable clinical course, certain features associated with a selected group of laboratory tests appear to be constant enough to be of diagnostic value. A history of contact with a cat and/or scratch which is usually associated with a peripheral skin lesion, lack of lymphangitis, presence of regional lymphadenopathy with tenderness to palpation are the most constant clinical findings. Fever, so frequently emphasized as a characteristic clinical sign, may be extremely variable in type and duration or entirely absent. A skin test with cat scratch antigen has been positive in all cases. Lacking this antigen, a negative Frei skin test in conjunction with a positive complement fixation test (Lygranum C. F.) is suggestive evidence for the diagnosis. With positive evidence from the above data, biopsy of an affected gland with its relatively nonspecific pathologic picture is not considered essential for the establishment of the diagnosis of cat scratch syndrome.

scholarly journals Von Hippel-Lindau Syndrome- A Case Report

2020 ◽  
Vol 1 (1) ◽  
pp. 25-28
Author(s):  
Suraj Thulung ◽  
Ashish Baniya ◽  
Subodh Sharma Paudel ◽  
Anirudra Devkota ◽  
Shikher Shrestha
Keyword(s):  
Malignant Tumors ◽  
Obstructive Hydrocephalus ◽  
Positive Family History ◽  
Pancreatic Cysts ◽  
Third Ventriculostomy ◽  
Autosomal Dominant Disorder ◽  
Von Hippel Lindau ◽  
Variable Expression ◽  
Multiple Organs ◽  
Gradual Onset

Von Hippel–Lindau (VHL) disease is a rare, familial disorder involving multiple organs, and characterized by the development of many benign and malignant tumors. It is an autosomal dominant disorder with high penetrance and variable expression. We present a case of a 31-year-old gentleman with gradual onset painless bilateral diminution in the vision for one and a half months with significant positive family history. Radiographic study revealed multiple cerebellar hemangioblastomas with obstructive hydrocephalus, renal cortical and pancreatic cysts and cystic renal cell carcinoma. Symptoms were relieved after endoscopic third ventriculostomy. These constellations of findings suggested von Hippel Lindau (VHL) syndrome and we present this case.

Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease

2017 ◽  
Vol 102 (7) ◽  
pp. 942-947 ◽  
Author(s):  
Marie Louise Mølgaard Binderup ◽  
Anne-Sophie Stendell ◽  
Michael Galanakis ◽  
Hans Ulrik Møller ◽  
Jens F Kiilgaard ◽  
...  
Keyword(s):  
National Study ◽  
Research Database ◽  
Von Hippel Lindau ◽  
Younger Age ◽  
National Patient ◽  
National Cohort ◽  
History Of ◽  
Von Hippel Lindau Disease ◽  
Almost All ◽  
Retinal Hemangioblastoma

Background and aimsWe aimed to determine the frequency of von Hippel-Lindau disease (vHL) as the underlying cause of retinal hemangioblastoma and to estimate retinal hemangioblastoma incidence and prevalence in a national cohort study.MethodsThrough the national patient register and vHL research database, we identified 81 patients diagnosed with a retinal hemangioblastoma in Denmark between 1977 and 2014. Consent was obtained for 54 living and 10 deceased patients with retinal hemangioblastoma. For each participant, we collected medical records and family information. Almost all (63 of 64) participants were or had previously been tested for mutations in the VHL gene.ResultsOverall, 84% of the participants (54 of the 64) had vHL. Compared with the non-vHL patients, the vHL patients had their first retinal hemangioblastoma at a younger age (22.5 vs 40 years), and were more likely to have an asymptomatic first hemangioblastoma (80% vs 20%). Overall, 76% (41 of 54) of the vHL patients had a family history of vHL, while none of the patients without vHL did. Despite the rarity of the disease, on average more than eight new tumours are diagnosed each year due to multiple tumour development in vHL patients. The estimated prevalence of patients with retinal hemangioblastoma was up to 1 in 73 080 individuals.ConclusionIn the first national study in which almost all participants were genetically tested, vHL was the underlying cause of retinal hemangioblastoma in 84% of cases; more often than previously reported. We recommend that genetic and clinical vHL screening should be performed in all patients with retinal hemangioblastoma.

scholarly journals Papillary cystadenoma of right testis: Case report and literature review

2017 ◽  
Vol 4 (2) ◽  
pp. 8
Author(s):  
Otobo O. Fidelis ◽  
Ikpi Edet ◽  
Enakirerhi Glen ◽  
Isiwele M. Edoise ◽  
Omotosho Ayodele ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Case Report ◽  
Malignant Tumors ◽  
Benign Neoplasm ◽  
Adenomatoid Tumor ◽  
Von Hippel Lindau ◽  
Male Undergraduate ◽  
History Of ◽  
Papillary Cystadenoma ◽  
Vhl Disease

Testicular cystadenoma is ranked the second commonest benign neoplasm. Other benign epididymal neoplasms include adenomatoid tumor (most common), leiomyoma, serous (nonpapillary) cystadenoma, cavernous hemangioma, and melanotic neuroectodermal tumor. Adenocarcinoma, mesothelioma, and metastatic renal cell carcinoma are malignant tumors that can affect the epididymis. A 24-year-old male undergraduate with a 3-month history of mildly tender right testicular swelling histologically diagnosed as papillary cystadenoma is presented. This case is presented from our locality as the first of its’ kind; and because it can be a possible manifestation of other diseases like von Hippel- Lindau (VHL) disease.

scholarly journals Clinlcopathological Study of Ovarian Cancer: A Multi Centered Study

2013 ◽  
Vol 5 (1) ◽  
pp. 3-6
Author(s):  
Farzana Deeba ◽  
ABM Muksudul Alam ◽  
Jesmin Banu
Keyword(s):  
Ovarian Cancer ◽  
Family History ◽  
Malignant Tumors ◽  
Tertiary Care ◽  
Positive Family History ◽  
Clinical Findings ◽  
High Serum ◽  
Cross Sectional ◽  
The Common ◽  
Mucinous Cyst

Background: Ovarian cancer is one of the leading causes of morbidity and mortality. Objectives: The purpose of the present study was to find out clinic-demographic and histopathological variants of ovarian cancer. Methodology: This cross-sectional study was conducted in the Department of Obstetrics and Gynaecology at four largest tertiary care Hospitals in Dhaka city from January 2008 to December 2009. Clinically diagnosed and histopathologically confirmed ovarian cancer patients were included in this study. Result: Histopathological confirmed 28 patients of ovarian cancer were enrolled in this study. The mean age (±SD) was 40.6 (±12.5) years (Range 13 to 63 years). Lower abdominal lump (71.4%) was the most common symptoms. Family history (14.0%) and multiparty (53.0%) were also associated with ovarian cancer. Among 28 malignant tumors cases serious cyst adenocarcinoma (57.1%) was the most common followed by mucinous cyst adenocarcinoma (17.9%), dysgerminoma (7.1%), adenocarcinoma of ovary (7.1%), ovarian choriocarcinoma (3.6%) and endometriod adeno carcinoma (3.6%). High serum CA125 was found in 78.0% cases. Conclusion: Lower abdominal lump, multiparity and positive family history are the common clinical findings of ovarian cancer. Both serous and mucinous cyst adenocarcinoma are the common varient of ovarian cancer found in this study. DOI: http://dx.doi.org/10.3329/jssmc.v5i1.16196 J Shaheed Suhrawardy Med Coll, 2013;5(1):3-6

scholarly journals A Review of Von Hippel-Lindau Syndrome

2017 ◽  
Vol 4 (3) ◽  
pp. 20-29 ◽  
Author(s):  
Neha Varshney ◽  
Amanuel A Kebede ◽  
Harry Owusu-Dapaah ◽  
Jason Lather ◽  
Manu Kaushik ◽  
...  
Keyword(s):  
De Novo ◽  
Malignant Tumors ◽  
Treatment Options ◽  
Positive Family History ◽  
Treatment Modalities ◽  
Pancreatic Cysts ◽  
Molecular Testing ◽  
De Novo Mutations ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Syndrome

Von Hippel-Lindau syndrome (VHL) is a familial neoplastic condition seen in approximately 1 in 36,000 live births. It is caused by germline mutations of the tumor suppressor gene VHL, located on the short arm of chromosome 3. While the majority of the affected individuals have a positive family history, up to 20% of cases arise from de novo mutations. VHL syndrome is characterized by the presence of benign and malignant tumors affecting the central nervous system, kidneys, adrenals, pancreas, and reproductive organs. Common manifestations include hemangioblastomas of the brain, spinal cord, and retina; pheochromocytoma and paraganglioma; renal cell carcinoma; pancreatic cysts and neuroendocrine tumors; and endolymphatic sac tumors. Diagnosis of VHL is prompted by clinical suspicion and confirmed by molecular testing. Management of VHL patients is complex and multidisciplinary. Routine genetic testing and surveillance using various diagnostic techniques are used to help monitor disease progression and implement treatment options. Despite recent advances in clinical diagnosis and management, life expectancy for VHL patients remains low at 40–52 years. This article provides an overview of the major clinical, histological, and radiological findings, as well as treatment modalities.

scholarly journals MYBPC3Δ25bp intronic deletion in hypertrophic cardiomyopathy patients and healthy Iranian population

2021 ◽  
Vol 43 (1) ◽  
pp. 22-28
Author(s):  
Leila Emrahi ◽  
Shirin Shahbazi ◽  
Mehrnoush Toufan Tabrizi ◽  
Mohammad Mahdi Mortazavipour ◽  
Mir Ali Seyyedi
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Positive Family History ◽  
Healthy Population ◽  
Increased Risk ◽  
Study Results ◽  
Pcr Products ◽  
History Of ◽  
Sporadic Cases

Background: Hypertrophic cardiomyopathy is a common genetic cardiovascular disease with autosomal dominant inheritance and MYBPC3 gene has been frequently linked to its pathogenesis. Since, carriers of the 25 nucleotides deletion located on intron 32 of the MYBPC3 are at increased risk of heart disease we aimed to investigate this variant in hypertrophic cardiomyopathy patients and healthy population. Methods: DNA was extracted from 350 Blood samples including 42 hypertrophic cardiomyopathies and 308 healthy subjects and the region containing the deletion was amplified by PCR method. PCR products were analyzed on agarose gel and genotyping results were recorded. Results: Genetic counseling results revealed that 26.2% of patients were sporadic cases vs 59.5% with positive family history and there was a history of sudden cardiac death in the first degree relatives of 42.3% of the patients. Genotyping results showed that all samples had a single band of 198 bp, indicating no MYBPC3Δ25bp variant in HCM patients as well as 308 controls. Bioinformatics assessments revealed that MYBPC3Δ25bp had a frequency of 0.00438 on Iranome database with the highest incidence reported in the Baloch population. Conclusion: Since hypertrophic cardiomyopathy is related to sudden cardiac death, population studies in terms of predisposing factors are of particular importance. Our study results showed that MYBPC3Δ25bpshould not be considered as risk factor in the patients of northwest of Iran. However, according to the bioinformatics findings and reports of neighboring countries, it is suggested that MYBPC3Δ25bp to be studied in the eastern and southern Iranian hypertrophic cardiomyopathy patients.

scholarly journals Prevalence of Normal Tension Glaucoma (NTG) in Peshawar

2021 ◽  
Vol 15 (9) ◽  
pp. 2260-2261
Author(s):  
Sajjad Mohammad ◽  
Imran Khan ◽  
Muhammad Faiq Nisar ◽  
Ossama Ali Khan ◽  
Amir Khan ◽  
...  
Keyword(s):  
Family History ◽  
Teaching Hospital ◽  
Open Angle Glaucoma ◽  
Positive Family History ◽  
Normal Tension Glaucoma ◽  
Open Angle ◽  
Study Results ◽  
Department Of Ophthalmology ◽  
History Of ◽  
The Mean

Aim: Prevalence of Open angle glaucoma with normal intraocular pressure in Peshawar Methodology: It is a cross sectional study. It is done at Physiology Department, Khyber Medical College, Peshawar in collaboration with Ophthalmology deptt. Khyber Teaching Hospital, Peshawar Study period: six months Sample size: 394 cases attended the department of Ophthalmology, Khyber Teaching Hospital Peshawar. Out of 394 patients, 100 patients were included in this study. Results: There were 33(33%) males and 67(67%) females in the study. There were 27(27%) patients lying in the age range of 35-45 years, 46(46%) were in 46-55 years and 27 (27%) patients of 56-65 years. The mean age of patients was 51.21±8.12. All patients were with normal tension glaucoma. There were 29(29%) cases who had a positive family history of glaucoma. The “mean IOP” of the eye on the right side was 17.15±1.78mmHg and the “mean IOP” of the eye on the left side was 17.30±1.94mmHg. Conclusion: Prevalence of normal tension glaucoma (NTG) was 25.4% in Peshawar and its surroundings. Most of the patients were elderly females and 29 (29%) cases had a positive family history of glaucoma. Keywords: Open angle glaucoma, normal tension glaucoma, prevalence

Ischaemic stroke patients with heterozygous factor V Leiden present with multiple brain infarctions and widespread atherothrombotic disease

2009 ◽  
Vol 101 (01) ◽  
pp. 145-150 ◽  
Author(s):  
Johanna Helenius ◽  
Dimitrije Jakovljeviâ ◽  
Lauri Soinne ◽  
Martti Syrjälä ◽  
Markku Kaste ◽  
...  
Keyword(s):  
Family History ◽  
Ischaemic Stroke ◽  
Arterial Thrombosis ◽  
Clinical Laboratory ◽  
Positive Family History ◽  
Factor V Leiden ◽  
Stroke Severity ◽  
Cerebrovascular Event ◽  
Factor V ◽  
History Of

SummaryFactor V Leiden (FVL) mutation is a risk factor for venous and, to a degree, arterial thrombosis. It is unknown whether and how FVL affects the manifestations of ischaemic stroke (IS). We assessed the clinical, laboratory, radiological, and prognostic characteristics in an observational study with adult IS patients having FVL. We tested 860 patients with first-ever IS for FVL and found 48 FVL positive patients. Detailed clinical, laboratory, and radiological evaluation were compared with that of 144 (1:3) gender and age matched IS patients without FVL. All patients underwent a prognostic evaluation at an average of five years follow-up. Despite the relatively young age (mean 48.5 years, range 44–54 years) of the FVL positive IS patients, peripheral arterial occlusive disease (PAOD), coronary artery disease (CAD), and previous transient cerebrovascular event occurred more frequently compared with controls. Family history of cardiovascular disease (CVD) and multiple silent brain infarctions were revealed in half of the FVL positive patients, whereas these were seldom encountered among controls. Stroke severity, long-term recovery, and recurrence rates seemed similar irrespective of FVL status. Our findings indicate that the clinical profile of IS patients with FVL associated with wider manifestation of atherothrombosis, positive family history of arterial thrombosis, and presence of multiple silent infarctions on brain images.

Clinical and paraclinical characteristics of young patients with myocardial infarction from Northeast of Romania

2021 ◽  
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Family History ◽  
Cardiovascular Diseases ◽  
Older Patients ◽  
Positive Family History ◽  
Young Patients ◽  
Study Results ◽  
History Of ◽  
Case Outcome

The aim of this study was to evaluate the clinical and paraclinical features in young patients (18–40 years) with acute myocardial infarction (AMI) in the Northeast of Romania. We have considered all patients admitted between the 1st of January 2017 through the 31st of December 2019 at a tertiary care Cardiology Institute with the primary discharge diagnosis of AMI. These patients have been split into 2 groups depending on their age: the first group consisting of patients with an age equal to or lower than 40 years old and the second group consisting of patients with an age greater than 40 years old. After this, we have randomly selected a representative sample from each of the two groups. A total of 99 patients were ultimately enrolled in the study: 42 in the first group and 57 in the second group. Data collected included age, gender, medical history, laboratory tests, echocardiography parameters, coronarography study results, and case outcome. Most young patients with myocardial infarction were male, more likely to smoke (69% vs 35.1%, p = 0.001), and with a positive family history of cardiovascular diseases (35.7% vs 1.8%, p < 0.001) in comparison to their older counterparts. Also, they had fewer comorbidities, such as diabetes mellitus, hypertension, or a positive history of stroke or atrial fibrillation. Mean ejection fraction was significantly higher in young patients (43.4 ± 10.65 vs 37.16 ± 10.77, p = 0.005) and both tricuspid and mitral valve regurgitations were less severe. Coronary lesions were more severe in the older patients (p = 0.009), usually with more coronary arteries involved. No significant difference was recorded in the number of hospitalization days or in the case outcome. Acute myocardial infarction in young patients typically occurs more in men who smoke, those who are more than 30 years old, and those who have a positive family history of cardiovascular diseases. Echocardiographic parameters seem to be better than in the case of older patients and the coronary involvement is usually less severe.

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