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.

scholarly journals A 23-year-old man with acute lung injury after using a tetrahydrocannabinol-containing vaping device: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Anthony Lucero ◽  
Niklas Eriksson ◽  
Carli Nichta ◽  
Kimberly Sokol
Keyword(s):  
Respiratory Failure ◽  
Lung Injury ◽  
Past History ◽  
Disease Process ◽  
Case Presentation ◽  
Computed Tomographic ◽  
Control And Prevention ◽  
History Of ◽  
Hypoxic Respiratory Failure ◽  
Medical Intensive Care

Abstract Background Vaping-associated lung injury is a newly emerging disease process with the potential for serious health implications and high mortality, even despite the lack of underlying lung disease. We present a case of a young, otherwise healthy patient with tetrahydrocannabinol vaping-associated lung injury. Case presentation A 23-year-old Caucasian man with a past history of tetrahydrocannabinol vaping and benzodiazepine and methamphetamine abuse presented to the emergency department of our institution with a complaint of “feeling malnourished” over the past 5 days, along with associated fevers, cough, and vomiting. His past medical, surgical, family, and social histories were significant only for the recent use of marijuana vaping pens. Upon initial presentation, the patient appeared to be in significant respiratory distress. A computed tomographic scan of his chest demonstrated diffuse central predominant interstitial opacities, and he was admitted to the medical intensive care unit, where he was eventually intubated for hypoxic respiratory failure. No other cause of his respiratory failure was found, and it was ultimately believed that the patient had sustained a vaping-associated lung injury. Conclusion Tetrahydrocannabinol-containing vaping-associated lung injury is still poorly understood overall and is currently being investigated by the Centers for Disease Control and Prevention. In the meantime, physicians should consider vaping to be a public health emergency. We summarize the appropriate history, physical examination, appropriate workup, and therapies that physicians should be aware of in order to appropriately manage and treat patients presenting with suspected vaping-associated lung injury.

scholarly journals An Ayurvedic approach in the management of Koshta-Shakharshita Kamala with special reference to Hepatocellular Jaundice: A Case study

2021 ◽  
Vol 12 (2) ◽  
pp. 409-415
Author(s):  
Parappagoudra M ◽  
Malang A ◽  
Sahu L ◽  
Roy K B
Keyword(s):  
Fast Food ◽  
Eating Habits ◽  
Modern Science ◽  
Disease Process ◽  
Signs And Symptoms ◽  
Lower Limbs ◽  
Advanced Technology ◽  
Bile Pigments ◽  
History Of

Modern lifestyle and advanced technology have given life easier, but this has led to many diseases. In advanced lifestyle irregular eating habits, eating unhealthy foods and eating spicy fast food has become a fashion and alcohol consumption is increasing day by day. All of these factors lead to different disorders. Kamala is one among the diseases which are caused due to excessive intake of sour food, alcohol, unhealthy food and when a person with Panduroga continues intake of Pittakara Aahara then he may develop Kamala. According to modern science, Kamala can be correlated with Jaundice. Clinically the Jaundice is a sign of an ongoing disease process with common signs and symptoms like yellowish discolourations of the skin, mucous membranes, the eyes, urine etc. It is characterized by increase deposition of bile pigments in body fluids and tissues. It is perceptible only when the bilirubin level and its conjugates exceeds 1.5 mg/ 100ml plasma. Here is the case study of a patient who appeared to Parul Ayurved Hospital with the history of oedema over the bilateral lower limbs, heaviness in abdomen and chest region in the last 1 year, fever since 4-5 months and yellowish discolourations of eyes, nails and urine are present. In the present study, the patient was treated with Ayurvedic treatments i.e. Virechana Karma and Shamana Chikitsa. 

scholarly journals A 45-year-old Female with an Atypical Presentation of Pharyngitis

2020 ◽  
Vol 4 (2) ◽  
pp. 234-240
Author(s):  
Artur Schander ◽  
Andrew Glickman ◽  
Nancy Weber ◽  
Brian Rodgers ◽  
Michael Carney
Keyword(s):  
Sore Throat ◽  
Complete Blood Count ◽  
Differential Diagnoses ◽  
Prescription Medications ◽  
Over The Counter ◽  
Case Presentation ◽  
Common Causes ◽  
History Of

Introduction: Emergency physicians are trained to treat a variety of ailments in the emergency department (ED), some of which are emergent, while others are not. A common complaint seen in the ED is a sore throat. While most sore throats are easily diagnosed and treated, less common causes are often not considered in the differential diagnoses. Therefore, the purpose of this case study was to present an atypical case of sore throat and discuss differential diagnoses. Case Presentation: The patient was a 45-year-old female who presented to the ED with a three-day history of sore throat that was exacerbated by eating and drinking. The patient was not on any prescription medications, but tried over-the-counter medications for the sore throat without any improvement in symptoms. Review of systems was positive for sore throat, fevers, and chills. Physical examination of her oropharynx revealed mildly dry mucous membranes with confluent plaques and white patchy ulcerative appearance involving the tongue, tonsils, hard palate, and soft palate. Rapid streptococcal antigen, mononucleosis spot test, and KOH test were performed and found to be negative. Discussion: After initial testing was negative, a follow-up complete blood count with differential and complete metabolic profile were ordered. The patient was found to have decreased lymphocytes and platelets. Based upon those results, a diagnosis was made in the ED, the patient was started on medication, and further laboratory workup was ordered to confirm the diagnosis. ED providers should consider non-infectious as well as infectious causes for a sore throat, as this might lead to a diagnosis of an underlying condition.

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 “Our Self-Undoing”: Christina Rossetti’s Literary and Somatic Expressions of Graves’ Disease

Humanities ◽  
2019 ◽  
Vol 8 (1) ◽  
pp. 57 ◽  
Author(s):  
Mary Arseneau ◽  
Emery Terrell
Keyword(s):  
Disease Process ◽  
Physical Symptoms ◽  
Graves Disease ◽  
Christina Rossetti ◽  
Her Family ◽  
New Rhetoric ◽  
Life Threatening Illness ◽  
Life Threatening ◽  
History Of

Victorian poet Christina Rossetti (1830–1894) was frequently troubled by poor health, and her mid-life episode of life-threatening illness (1870–1872) when she suffered from Graves’ disease provides an illuminating case study of the ways that illness can be reflected in poetry and prose. Rossetti, her family, and her doctors understood Graves’ disease as a heart condition; however, Rossetti’s writing reflects a different paradigm, presenting themes of self-attack and a divided self that uncannily parallel the modern understanding of Graves’ disease as autoimmune in nature. Interestingly, these creative representations reflect an understanding of this disease process that Rossetti family documents and the history of Victorian medicine demonstrate Rossetti could not have been aware of. When the crisis had passed, Rossetti’s writing began to include new rhetoric and imagery of self-acceptance and of suffering as a means of spiritual improvement. This essay explores the parallels between literary and somatic metaphors: Rossetti’s body and art are often simultaneously “saying” the same thing, the physical symptoms expressing somatically the same dynamic that is expressed in metaphor and narrative in Rossetti’s creative writing. Such a well-documented case history raises questions about how writing may be shaped by paradigms of illness that are not accessible to the conscious mind.

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 study of the first pregnant women with COVID-19 in Bukavu, Eastern DR Congo.

2020 ◽  
Author(s):  
Etienne KAJIBWAMI BIRINDWA ◽  
Guy MULINGANYA MULUMEODERHWA ◽  
Olivier NYAKIO ◽  
Guy-Quesney MATESO MBALE ◽  
Serge ZIGABE MUSHAMUKA ◽  
...  
Keyword(s):  
Risk Factors ◽  
Pregnant Women ◽  
Microscopic Examination ◽  
Sub Saharan Africa ◽  
Dr Congo ◽  
Case Presentation ◽  
History Of ◽  
Sub Saharan ◽  
In Pregnancy

Abstract Introduction: Vertical transmission of covid-19 is possible; its risk factors are worth researching. The placental changes found in pregnant women have a definite impact on the foetus.Case presentation: We report a case of a 25-year-old woman, gravida 3, para 2 (2 alive children), with a history of two caesarean deliveries, who was infected by the SARS-Cov-2 during the last term of her pregnancy. She gave birth by caesarean after 34 weeks of gestation to a new-born baby also infected with SARS-Cov-2. The per-operative observations noted several eruptive lesions in the pelvis, bleeding on contact. Microscopic examination of the foetal appendages revealed thrombotic vasculopathy in the placenta and in the umbilical cord vessels.Conclusion: This case is one of the first documented cases of COVID-19 in pregnancy in sub-Saharan Africa. We strongly suggest obstetricians to carefully examine the aspect of the peritoneum, viscera and foetal appendages in affected pregnant women.

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 A Case Report of Comminuted Patella Fracture with Open Reduction

2021 ◽  
pp. 1-5
Author(s):  
Tejal K. Babar ◽  
Ashish W. Bele ◽  
Nivedita Chandrapal Singh ◽  
Mohd. Irshad Qureshi ◽  
Rakesh Krishna Kovela ◽  
...  
Keyword(s):  
Case Report ◽  
Open Reduction ◽  
Rating Scale ◽  
Case Presentation ◽  
Comminuted Fracture ◽  
History Of ◽  
Inherent Strength ◽  
Pain Rating Scale ◽  
Fracture Surgery

Introduction: Patellar injuries are usually caused while a person slips or falls on a flexed knee and when the forces from the extensors surpass the inherent strength of patella. As the bony failure advances, it concurs or follows injury to medial and lateral extensions of quadriceps mechanism. This happens by pulling mechanism of the muscles. The patient is unable to extend the affected knee actively. This is indicative of disruption of the extensor mechanism and a torn retinaculum. This requires repair or reconstruction through operative means. Case Presentation: To find out complications of comminuted fracture of patella and open reduction after 15 years of surgery. Case Report: A 32-year-old man had a history of fall on ground due to slipping of the wheelchair over wet floor while taking a patient on wheelchair which led to comminuted fracture of left patella with shift knee and had undergone Open reduction and Tension band Osteosynthesis. After this surgical intervention, the patient presented with knee stiffness and pain (rated 6 on numerical pain rating scale) and was referred to physiotherapy. Conclusion: This case study concluded that there is evident stiffness and muscle wasting observed after 15 years of post-fracture surgery of patella, which was managed with the physiotherapeutic rehabilitations.

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