scholarly journals Massive Pulmonary Emboli in Klinefelter Syndrome: A Rare Case Report

2021 ◽  
Vol 11 (4) ◽  
Author(s):  
Fatemeh Javaherforooshzadeh ◽  
Yusef Torfi
Keyword(s):  
Klinefelter Syndrome ◽  
Genetic Disorder ◽  
Anticoagulation Therapy ◽  
Acute Chest Pain ◽  
Case Presentation ◽  
Oral Anticoagulation Therapy ◽  
Rare Case Report ◽  
Chief Complaints ◽  
History Of ◽  
Surgery Center

Introduction: Klinefelter syndrome (KS) is a genetic disorder that affects men. An augmented incidence of the thromboembolic event described in patients with KS. Case Presentation: A 34-year-old male identified with a definitive diagnosis of KS was hospitalized to our cardiac surgery center through the emergency with chief complaints of acute chest pain and dyspnea. Saddle pulmonary thromboembolism was established from chest Computed Tomography Angiography (CTA). The patient's symptoms resolved after embolectomy via surgery. Conclusions: There is a tendency for hypercoagulability in KS. This tendency is because of hormonal discrepancy and hereditary thrombophilic factors. So, patients with KS and past medical history of venous thromboembolism necessitate constant oral anticoagulation therapy.

scholarly journals A Case Report of Steven Johnson Syndrome

2021 ◽  
pp. 132-139
Author(s):  
Archana Dhengare ◽  
Ranjana Sharma ◽  
Sonali Waware ◽  
Pranali Wagh
Keyword(s):  
Stevens Johnson Syndrome ◽  
Skin Allograft ◽  
Case Presentation ◽  
Johnson Syndrome ◽  
Chief Complaints ◽  
Long Time ◽  
History Of ◽  
Long Term Consequences ◽  
Steven Johnson Syndrome

Introduction: In 1922, two doctors, Albert Mason Stevens and Frank Johnson, examined purulent conjunctivitis.” Background: Stevens-Johnson syndrome was named after them as a result of their study. The incidence rate is 7 cases per million populations per year. Case Presentation: Master Yash Ghudam was brought to AVBRH by his parents with chief complaints of fever since 5 days and erythematous lesions all over body since 3 days. History of present illness: Patient was apparently alright 5 days back, and then he started having fever which was of high grade and was not associated with chills and rigor. Patient was treated on OPD basis and the symptoms of an unexplained disease in two young boys, aged 7 and 8, who had "an unusual, generalised eruption of continued fever, inflamed buccal mucosa, and extreme some antibiotic was given, but there was no relief, after 2 days there was ulcers formation inside the mouth for which some ointment and syrup becosule was started. But lesions were increasing. 3 days back the lesions first appeared on chest then got spread to legs and hands. For which patient was admitted in Chandrapur hospital from were the patient was referred to AVBRH for further management. Interventions: The patient was treated the patient was started on intravenous and orally Cortecosteroids, Omnacortil 10mg, Antibiotics- Inj. Ceftriaxone1gm IV 12 hourly [100mg/kg/day], inj. Amikacin 150mg IV 12 hourly [15mg/kg/day], Syp. Mucaine gel 2tsp BD – swish and swallow), Syp. Cital  2.5ml TDS, Tab. Chymoral Forte  TDS, Inj. Pantop 20mg IV 24 hourly (1mg/kg/dose). Pandya’s Formula: Syp. Gelusil 5ml, Syp. Benadryl 5ml, Syp. Omnacortil 5ml.  Skin allograft: It has been planned. Conclusion: In this study, we mainly focus on medical management and outstanding nursing care helped prevent farther complication. Overall, the patient's reaction was positive, though recovery time from Steven johnson syndrome varies from person to person, taking weeks, months, or even years. However, only a small number of people completely recover, while some have long-term consequences. She took a long time to get back on her feet.

scholarly journals Benign Pleural Multicystic Mesothelioma: A Rare Case Report

2021 ◽  
Author(s):  
Alireza Rezvani ◽  
SeyedehMaryam Pishva ◽  
Amirhossein Erfani ◽  
Ahmad Monabati ◽  
Bizhan Ziaian ◽  
...  
Keyword(s):  
Case Report ◽  
Chronic Cough ◽  
Rare Case ◽  
Pleural Mesothelioma ◽  
Case Presentation ◽  
Rare Case Report ◽  
History Of ◽  
The Right ◽  
Lateral Thoracotomy ◽  
Pleural Involvement

Abstract Background: Fewer than 200 benign multicystic peritoneal mesothelioma cases were reported worldwide till 2017, while its pleural involvement has rarely been reported. Case presentation: We report a 70-year-old man who presented with three months history of chronic cough. Surgical resection was performed, and the pathology confirmed benign multicystic pleural mesothelioma. The patient underwent right lateral thoracotomy, wedges resection of the right upper lobe, and parietal pleurectomy and was discharged with an uneventful postop course.Conclusion: Based on published literature to date, this is the second reported case of pleural involvement of this disease.

scholarly journals A case of tuberculosis of the rare azygos lobe of the right lung

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Sandeep Singh Awal ◽  
Som Subhro Biswas ◽  
Hitesh Goyal ◽  
Sampreet Kaur Awal
Keyword(s):  
Incidental Finding ◽  
Chest Imaging ◽  
Cardinal Vein ◽  
Anatomical Variant ◽  
Case Presentation ◽  
Azygos Lobe ◽  
Rare Case Report ◽  
History Of ◽  
The Right ◽  
Posterior Cardinal Vein

Abstract Background The azygos lobe is a rare anatomical variant seen in the upper lobe of right lung. It occurs during embryological development due to the failure of posterior cardinal vein to migrate supero-medially. It is often an incidental finding on imaging and is asymptomatic in majority of cases. Tuberculosis involving the azygos lobe is extremely rare. Only a few cases of tuberculosis involving the azygos lobe have been reported in literature. Case presentation We present a rare case report of tuberculosis infection involving the azygos lobe in a 57-year-old male with history of chronic cough, fever, hemoptysis, and weight loss. Conclusions The azygos lobe is usually asymptomatic, but it may be misdiagnosed as bulla, lung cyst, or abscess. In rare cases it may be associated with certain pathology such as tuberculosis, other infections, and lung cancer. Hence, it is pertinent for a radiologist to be aware of this variant when reporting chest imaging cases.

Methemoglobinaemia in Diabetic Ketoacidosis Patient

2021 ◽  
Vol 03 ◽  
Author(s):  
Magdy Mohamed ◽  
Nadem Javed
Keyword(s):  
Ascorbic Acid ◽  
Family History ◽  
Diabetic Ketoacidosis ◽  
G6pd Deficiency ◽  
Genetic Disorder ◽  
Red Blood Cell Transfusion ◽  
Case Presentation ◽  
History Of ◽  
Insulin Dependent ◽  
Glucose 6 Phosphate Dehydrogenase

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked genetic disorder. Case Presentation: In this paper, we report a case of a 41-years-old male patient with non-insulin-dependent diabetes and a family history of G6PD deficiency never known to have any previous hemolytic episodes, presented as a case of diabetic ketoacidosis with features of hemolytic anemia due to G6PD deficiency manifesting as methemoglobinemia and anemia. Conclusion: Our patient successfully managed with ascorbic acid and red blood cell transfusion. Clinicians should, therefore, be aware of the possibility of this uncommon association between diabetic ketoacidosis, G6PD deficiency, and methemoglobinemia which may be present in patients with G6PD deficiency and severe hemolysis.

scholarly journals Astroblastoma: a rare case report

2015 ◽  
Vol 15 (1) ◽  
pp. 107-110
Author(s):  
Siddanna R. Palled ◽  
Naveen Thimmaya ◽  
Sugashwaran Jagadheesan ◽  
Ibrahim Khaleel
Keyword(s):  
Young Adults ◽  
Case Report ◽  
Rare Case ◽  
Postoperative Radiotherapy ◽  
Case Description ◽  
Total Excision ◽  
Rare Case Report ◽  
Chief Complaints ◽  
History Of ◽  
The Right

AbstractBackgroundAn astroblastoma is a rare primary glial tumour occurring preferentially in young adults. It is characterised by a perivascular arrangement of tumour cells forming perivascular pseudorosettes mimicking ependymomas. The histogenesis of astroblastoma is unclear.Case descriptionWe present the history of a 13-year-old girl with chief complaints of headache associated with vomiting, blurring of vision on the left eye and a history of diplopia on the right eye. She underwent left parietal parasagittal craniotomy and near-total excision of tumour. She was planned for postoperative radiotherapy 5,940 cGy in 28 fractions along with concurrent temozolamide100 mg. She had no neurological deficit or complaints during her last visit.ConclusionAstroblastomas are a distinct clinic pathologic entity, with well-described radiologic, pathologic and cytogenetic features. Its recurrence is high, and efforts must be made to elucidate the role and usefulness of radiotherapy and chemotherapy in these tumours.

Jarcho-Levin Syndrome: A Case Study

2004 ◽  
Vol 23 (5) ◽  
pp. 9-21
Author(s):  
Peggy Ables
Keyword(s):  
Respiratory Failure ◽  
Medical Care ◽  
Genetic Disorder ◽  
Disease Process ◽  
Case Presentation ◽  
Rare Genetic Disorder ◽  
Spondylocostal Dysostosis ◽  
Rib Anomalies ◽  
History Of

Jarcho-Levin syndrome is a rare genetic disorder characterized by multiple vertebral and rib anomalies. There are two types of Jarcho-Levin syndrome, spondylothoracic dysplasia and spondylocostal dysostosis. Spondylothoracic dysplasia has a grimmer prognosis than spondylocostal dysostosis. Many of the infants born with this disorder succumb to respiratory failure. With new advances in medical care, even the more severely affected children have an improved chance of survival. This is a case presentation of one child with spondylothoracic dysplasia and a brief history of the disease process.

4th A in a triple A syndrome – A rare case report

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
K. MaheshKumar ◽  
Shriraam Mahadevan ◽  
Padmavathi Ramaswamy
Keyword(s):  
Adrenal Insufficiency ◽  
Autonomic Dysfunction ◽  
Autonomic Function ◽  
Genetic Disorder ◽  
Triple A Syndrome ◽  
Case Presentation ◽  
Allgrove Syndrome ◽  
Abnormal Gait ◽  
Rare Case Report ◽  
Sympathovagal Imbalance

AbstractObjectivesAAA (Allgrove) syndrome is a rare genetic disorder characterized by cardinal features of adrenal insufficiency, achalasia, and alacrimia.Case presentationA 21 year girl of known case of Triple A syndrome was referred for the evaluation of autonomic function. She was born full term with developmental delay and abnormal gait. Esophageal manometry study by pneumatic balloon dilatation revealed the presence of achalasia cardia. She had signs of peripheral neuropathy and had episodes of fainting and suspected orthostatic hypotension. Cardiovascular autonomic function and heart rate variability tests were conducted as per Ewing protocol, revealed that the patient had sympathovagal imbalance and sympathetic dominance.ConclusionsThe presence of autonomic dysfunction adds the 4th A to the Triple A syndrome (Adrenal insufficiency, Achalasia, Alacrimia and Autonomic dysfunction). Noninvasive autonomic function tests are recommended for Triple A syndrome patients to reduce the morbidity associated with autonomic dysfunction.

Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Elpis-Athina Vlachopapadopoulou ◽  
Eirini Dikaiakou ◽  
Anatoli Fotiadou ◽  
Popi Sifianou ◽  
Elizabeth Barbara Tatsi ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Congenital Hyperinsulinism ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Hypoketotic Hypoglycaemia ◽  
History Of ◽  
Neonates And Infants ◽  
Diabetic Mothers

AbstractObjectivesCongenital Hyperinsulinism (CHI) is the most common cause of persistent hypoketotic hypoglycaemia in neonates and infants. It is a genetic disorder with both familial and sporadic forms.Case PresentationIn this study, we examined two unrelated infants of diabetic mothers (IDMs) presented with HH. DNA sequencing (Sanger and NGS panel) identified pathogenic variants of the Hepatocyte Nuclear Factor 4A (HNF4A) gene in both families. Pathogenic variants of HNF4A gene are reported to cause HH in the newborn period and Maturity Onset Diabetes of the Young (MODY) later in life. The diagnosis of MODY was made in retrospect for the two mothers, thus improving the management of their diabetes.ConclusionGenetic testing for CHI is strongly recommended if neonatal hypoglycemia persists. A family history of MODY or presumed type II diabetes can support that the affected gene is HNF4A.

scholarly journals Bilateral Distal Humeral Fracture in a patient with Osteogenesis imperfecta During the Covid Pandemic– A Rare Case Report

2020 ◽  
pp. 187
Author(s):  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Genetic Disorder ◽  
Humeral Fracture ◽  
Distal Humerus ◽  
Low Bone Mass ◽  
Multiple Fractures ◽  
Bone Deformity ◽  
Rare Case Report ◽  
History Of ◽  
Brittle Bones

Introduction: Osteogenesis imperfecta (OI) is a genetic disorder which is characterised by bone deformity, low bone mass, connective tissue manifestations and brittle bones with history of multiple fractures. Although recurrent fractures are known in patient with OI, the occurrence of bilateral simultaneous fracture of humerus is quite rare. Presenting complaint and investigations: The patient had a fall in the outdoors during a storm during the height of covid pandemic and sustained injury to both arms. Radiographs revealed comminuted fracture of left distal humerus and transverse extraarticular supracondylar fracture of right humerus. Diagnoses, therapeutics interventions, and outcomes: Although, conservative measures were advised as per the guidelines for orthopaedic surgery during the covid pandemic for most of the fractures, the decision to operate was made considering the morbid obesity and hampered mobility due to bilateral above elbow plaster.The patient underwent staged open reduction and internal fixation of both distal humerus with anatomical locking plates in a span of 2 weeks. She recovered uneventfully with a good functional range of movements and resumed her routine activities. Conclusion: The treatment for complex and unusual fractures should be individualised and should take into consideration of patient’s general condition and safety.

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