Intrauterine upper limb thrombosis: an unusual presentation

Intrauterine thrombosis with extremity ischemia presenting at birth in a newborn is a rare event. A 29 year old mother, 2nd gravida with one first trimester spontaneous abortion delivered a 33week gestation male preterm baby. On Examination, the entire left upper limb was ischemic and edematous with an absent flow on Doppler USG. Low molecular weight heparin (LMWH) was started after which gradually the limb turned pink with good volume pulsations. Thrombophilia mutation studies revealed the heterozygous state for the MTHFR (C677T) mutation only in the mother. Prompt diagnosis and early treatment has a favourable outcome in cases of intra-uterine thrombo-embolism.

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Methylenetetrahydrofolate reductase polymorphisms as risk factors for retinal venous occlusive disease: A literature review

European Journal of Ophthalmology ◽

10.1177/11206721211000647 ◽

2021 ◽

pp. 112067212110006

Author(s):

Manuel Marques ◽

Francisco Alves ◽

Miguel Leitão ◽

Catarina Rodrigues ◽

Joana Tavares Ferreira

Keyword(s):

Risk Factors ◽

Literature Review ◽

Methylenetetrahydrofolate Reductase ◽

Mthfr C677t ◽

Mthfr Gene ◽

Mthfr Polymorphisms ◽

Vein Occlusion ◽

C677t Mutation ◽

Retinal Vascular Disease

The role of polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene in retinal vein occlusion (RVO) is a theme of discussion since the first reports of RVO in patients with MTHFR C677T mutation and without classic acquired risk factors for retinal vascular disease. The association between MTHFR polymorphisms and RVO has been studied over the last 20 years producing conflicting results. This review aims to summarize the literature concerning the role MTHFR polymorphisms as risk factors for RVO.

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Compression neuropathies of the forearm: anatomy, clinical features and management

British Journal of Hospital Medicine ◽

10.12968/hmed.2021.0187 ◽

2021 ◽

pp. 1-10

Author(s):

Alexander Scarborough ◽

Robert J MacFarlane ◽

Michail Klontzas ◽

Rui Zhou ◽

Mohammad Waseem

Keyword(s):

Peripheral Nerve ◽

Brachial Plexus ◽

Upper Limb ◽

Peripheral Nerves ◽

Clinical Presentation ◽

Permanent Damage ◽

Peripheral Nerve Lesions ◽

Clinical Presentations ◽

Wide Range ◽

Prompt Diagnosis

The upper limb consists of four major parts: a girdle formed by the clavicle and scapula, the arm, the forearm and the hand. Peripheral nerve lesions of the upper limb are divided into lesions of the brachial plexus or the nerves arising from it. Lesions of the nerves arising from the brachial plexus are further divided into upper (proximal) or lower (distal) lesions based on their location. Peripheral nerves in the forearm can be compressed in various locations and by a wide range of pathologies. A thorough understanding of the anatomy and clinical presentations of these compression neuropathies can lead to prompt diagnosis and management, preventing possible permanent damage. This article discusses the aetiology, anatomy, clinical presentation and surgical management of compressive neuropathies of the upper limb.

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The Effect of Preserving Pregnancy in Cervical Cancer Diagnosed During Pregnancy: A Retrospective Study

10.21203/rs.3.rs-507502/v1 ◽

2021 ◽

Author(s):

Zuoxi He ◽

Chuan Xie ◽

Xiaorong Qi ◽

Zhengjun Hu ◽

Yuedong He

Keyword(s):

Cervical Cancer ◽

Rare Event ◽

Oncologic Outcome ◽

First Trimester ◽

Second Trimester ◽

Third Trimester ◽

Delayed Treatment ◽

The Third ◽

Survival Difference ◽

Estimated Blood Loss

Abstract ObjectiveCervical cancer diagnosed during pregnancy is a rare event, and data regarding efficacy of cancer treatment during pregnancy is limited. This study aimed to assess the safety of continuation of the pregnancy for mother and fetus when concomitantly diagnosed with cervical cancer.MethodsThis study retrospectively analyzed all cervical cancer patients diagnosed while pregnant or immediately postpartum, inclusive from Jan 2010 to June 2019 at our institute. Patient clinical details and follow-up were obtained from hospital records. ResultsThe study comprised 40 patients with clinical cancer stages of ⅠA1 (1/40, 2.5%); ⅠB1 (15/40, 37.5%); IB2 (10/40, 25%); ⅡA (12/40, 30%); and ⅡB (2/40, 5%). There were 38 patients diagnosed during pregnancy, and 2 diagnosed in the postpartum period. Of the 38 patients, 17 were diagnosed in the first trimester, 13 in the second trimester, and 8 in the third trimester. Ten of 38 patients (26.3%) continued their pregnancy after learning of their diagnosis; 7 (70%) in the third trimester and 3 (30%) in the second trimester. The mean time from diagnosis to surgery in the patients who continued their pregnancy was 52.7 days, which was statistically significantly greater than the termination of pregnancy group (52.7 vs 16.3 days, P < 0.01). Notably, there was no survival difference between the 2 groups (100% vs 90.91%, P =0.54), and none of the pregnant women who ultimately died had delayed treatment due to pregnancy. Similarly, the surgical estimated blood loss and operative duration comparing the 2 groups were not significantly different. ConclusionsIn the present study, the gestational age of pregnancy at the time of initial diagnosis of cervical cancer was an important determinant in the disease management. Continuation of the pregnancy when diagnosed with cervical cancer did not affect the oncologic outcome of the mother nor increase either surgical or obstetric complications. Additionally, the use of neoadjuvant chemotherapy did not threaten the health of the fetus. These results may be useful in counseling patients facing the diagnosis of cervical cancer during pregnancy.

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Successful management of emphysematous gastritis with invasive gastric mucormycosis

BMJ Case Reports ◽

10.1136/bcr-2019-231297 ◽

2020 ◽

Vol 13 (2) ◽

pp. e231297 ◽

Cited By ~ 1

Author(s):

Digvijoy Sharma

Keyword(s):

Antifungal Therapy ◽

High Mortality ◽

Surgical Intervention ◽

Favourable Outcome ◽

Source Control ◽

Successful Management ◽

Emphysematous Gastritis ◽

Prompt Diagnosis ◽

Early Surgical Intervention

The present manuscript reports two extremely rare cases of coexisting emphysematous gastritis with gastric mucormycosis. The cases were managed successfully, considering the high mortality associated with both conditions independently. The aim of the manuscript is to elucidate the importance of prompt diagnosis, early surgical intervention for source control and concomitant application of antifungal therapy for a favourable outcome.

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Myocardial Infarction in a Newborn Heterozygous for the MTHFR C677T Mutation

Pediatric and Developmental Pathology ◽

10.2350/11-09-1088-cr.1 ◽

2012 ◽

Vol 15 (3) ◽

pp. 232-236 ◽

Cited By ~ 7

Author(s):

Amy B. Clark ◽

Theophil A. Stokes ◽

Henry F. Krous ◽

Douglas N. Carbine

Keyword(s):

Myocardial Infarction ◽

Mthfr C677t ◽

C677t Mutation

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Hyperhomocysteinemia and C677T Polymorphism of Methylenetetrahydrofolate Reductase Gene in Patients with Cardiovascular Disease

Pteridines ◽

10.1515/pteridines.2010.21.1.103 ◽

2010 ◽

Vol 21 (1) ◽

pp. 103-109

Author(s):

Zahira Houcher ◽

Bakhouche Houcher ◽

Abderezak Touabti ◽

Samia Begag ◽

Ayşenur Öztürk ◽

...

Keyword(s):

Cardiovascular Disease ◽

Methylenetetrahydrofolate Reductase ◽

Mthfr C677t ◽

C677t Polymorphism ◽

Old Patients ◽

Mthfr C677t Polymorphism ◽

Plasma Thcy ◽

C677t Mutation ◽

Total Homocysteine ◽

And Gender

Abstract The aim of the present study was to explore the influence of age and gender, on the association between the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and plasma total homocysteine (tHcy) concentrations in patients with cardiovascular disease (CVD). Fasting tHcy and the MTHFR C677T mutation were evaluated in 98 patients with CVD, 46 were men and 52 women (aged 20-96 years). There was a significant elevation of plasma tHcy with age (<45 yr: 33.9 μmol/L vs. >75 yr: 43.6 μmol/L; p <0.01). The mean tHcy concentration increased significantly with age in men (<55 yr: 33.4 μmol/L vs. >55yr: 42.45 μmol/L; p 0.01). However, the plasma tHcy was not increased with older age in women. The frequency of the TT genotype was 19.6% in the younger patients group (>55 yr) compared with 4.7% in the older patients group (>55 yr; p <0.01). In conclusion, the data presented here are consistent with genetic factors that influence tHcy levels being more prominent in old patients (>55 yr). Then, the MTHFR mutation does not seem to be associated with either high tHcy or the occurrence of CVD.

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Hereditary Spherocytosis (HS) Associated with a Heterozygous MTHFR C677T Mutation and with Elevated Anticardiolipin Antibodies.

Blood ◽

10.1182/blood.v114.22.5069.5069 ◽

2009 ◽

Vol 114 (22) ◽

pp. 5069-5069

Author(s):

Luis S. Noble ◽

Maria Velazquez ◽

Anuradha Gupta ◽

Mark M. Landeros ◽

Juan Herrada

Keyword(s):

Hereditary Spherocytosis ◽

Conflicts Of Interest ◽

High Titer ◽

Mthfr C677t ◽

Anticardiolipin Antibodies ◽

Thromboembolic Events ◽

Thrombotic Risk ◽

Venous Thromboembolic Events ◽

History Of ◽

C677t Mutation

Abstract Abstract 5069 Background Hereditary spherocytosis (HS) is a spectrum of inherited erythrocyte membrane defects that result in hemolysis and varying degrees of anemia, usually not associated with increased thrombotic risk. However, there is some concern about post-splenectomy thrombocytosis, since both arterial and venous thromboembolic events have been reported in patients splenectomized for HS. A review of the medical literature revealed only a few cases of thrombosis associated with pregnancy and hereditary spherocytosis, and none of them had methyl tetrahydrofolate reductase (MTHFR) mutations or the presence of elevated anticardiolipin antibodies (both considered risk factors for thromboembolic disease). Methods Case report Results A 34-year-old Caucasian female with history of hereditary spherocytosis and splenectomy at age five, underwent evaluation for infertility. The patient was found to have a high titer of anticardiolipin antibodies and the presence of heterozygosity for the MTHFR C677T mutation. She denied any personal or family history of deep venous thrombosis. Subsequently the patient became pregnant. Because the combination of thrombophilic states appears to increase the risk of thromboembolic events, it was decided to start the patient prophyllactically with oral aspirin 81 mg daily, Foltx® (Folic acid 2.5 mg, cyanocobalamin 2000 mcg, and pyridoxine hydrochloride 25 mg), and heparin 5000 mg subcutaneously twice a day. On her most recent evaluation, at 26 weeks of pregnancy, no medical or obstetric problems have been observed. Conclusion Our case illustrates an unusual combination of thrombophilic states. Further studies are needed to evaluate the clinical significance of this association. Disclosures No relevant conflicts of interest to declare.

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