Mammalian Target of Rapamycin Inhibitors and Life-Threatening Conditions in Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is a multisystem disease associated with an overall reduction in life expectancy due to the possible occurrence of different life-threatening conditions. Subjects affected by TSC are, in fact, at risk of hydrocephalus secondary to the growth of subependymal giant cell astrocytomas, or of sudden unexpected death in epilepsy. Other nonneurological life-threatening conditions include abdominal bleeding owing to renal angiomyolipomas rupture, renal insufficiency due to progressive parenchymal destruction by multiple cysts, pulmonary complications due to lymphangioleiomyomatosis, and cardiac failure or arrhythmias secondary to rhabdomyomas.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

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The malformations of cortical development (most FCD) were the most common pathological type for children cases in China with drug ‐resistant seizures. It was speculated further that the FCD patients with shorter duration of epilepsy before surgery seem to have a higher ratio of being seizure‐free after surgery. AbstractObjectivesThe drug ‐resistant seizures are characterized by frequent and severe onset of seizures in childhood. There is only little literature had extensively explored the types of pathological brain damage in Chinese children cases. The present study aims to investigate the histopathologic findings a...
Source: Brain and Behavior - Category: Neurology Authors: Tags: ORIGINAL RESEARCH Source Type: research
AbstractBackgroundIdiopathic normal pressure hydrocephalus (iNPH) is a neurodegenerative disease with an unknown etiology. Disturbed corticospinal inhibition of the motor cortex has been reported in iNPH and can be evaluated in a noninvasive and painless manner using navigated transcranial magnetic stimulation (nTMS). This is the first study to characterize the immediate impact of cerebrospinal fluid (CSF) drainage on corticospinal excitability.MethodsTwenty patients with possible or probable iNPH (16 women and 4 men, mean age 74.4  years, range 67–84 years), presenting the classical symptom triad and radio...
Source: Fluids and Barriers of the CNS - Category: Neuroscience Source Type: research
Authors: Hicks SM, Coupland LA, Jahangiri A, Choi PY, Gardiner EE Abstract Diagnosis of immune thrombocytopenia (ITP) and prediction of response to therapy remain significant and constant challenges in hematology. In patients who present with ITP, the platelet count is frequently used as a surrogate marker for disease severity, and so often determines the need for therapy. Although there is a clear link between thrombocytopenia and hemostasis, a direct correlation between the extent of thrombocytopenia and bleeding symptoms, especially at lower platelet counts is lacking. Thus, bleeding in ITP is heterogeneous, unp...
Source: Platelets - Category: Hematology Tags: Platelets Source Type: research
Authors: Fernández Conesa M, Milena Muñoz A, Valero González MÁ Abstract We read with interest the article by Guido Villa-Gómez, Manuel Alejandro Mahler and Dante Manazzoni "A new case of pseudoaneurysm of the right hepatic artery secondary to laparoscopic cholecystectomy". A 57-year-old cholecystectomized female was admitted due to abdominal pain with an analytical pattern of cholestasis and liver enzyme alterations, with cholangitis that progressed to septic shock of a biliary origin with gradual anemia and hypotension. PMID: 32054281 [PubMed - as supplied by publisher]
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
We present the clinical case of a 34-year-old woman with a history of stage IV choriocarcinoma, after her diagnostic debut two years ago, a hysterectomy and resection of the right single pulmonary nodule with anatomopathological confirmation of both as uterine choriocarcinoma and pulmonary nodule compatible with metastatic choriocarcinoma, subsequently the patient received chemotherapy treatment with stability of her disease until now. PMID: 32054277 [PubMed - as supplied by publisher]
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
Conclusions: Leukopenia could be an objective prognostic factor for left colonic perforation. Although HP is the gold standard for septic left colonic perforation, it did not improve overall mortality of the patients without leukopenia. For such patients, PR or PA could be a good option for left colonic perforation. PMID: 32054246 [PubMed - as supplied by publisher]
Source: Annals of Coloproctology - Category: Gastroenterology Tags: Ann Coloproctol Source Type: research
Authors: Kim JH, Choi PW, Um E, Jung SM, Shin YC, Jung SW, Kim JI, Heo TG, Lee MS, Jun H Abstract Purpose: Since insertion of foreign body (FB) into the anus is considered as taboo practice, the patients may impose therapeutic dilemma on attending surgeon. Herein, we performed present study to evaluate the clinical characteristics of patient with retained rectal FB in Koreans, and to suggest management guideline for such cases. Methods: We retrospectively investigated 14 patients between January 2006 and December 2018. We assessed demographic features, mechanism of FB insertion, clinical course between diagnosi...
Source: Annals of Coloproctology - Category: Gastroenterology Tags: Ann Coloproctol Source Type: research
Authors: Chung JS, Kwak HD, Ju JK Abstract Purpose: There has been a concern that the concept of enhanced recovery after surgery could affect other proposed quality measures, including the rate of readmission due to early discharge. We aimed to examine the 30-day readmission rate, risk factors associated with readmission after elective colorectal surgery for colon cancer, causes of readmission, disease-free survival (DFS), and overall survival (OS) in a single institution. Methods: We retrospectively investigated 292 patients who underwent elective colorectal surgery for colon cancer between 2010 and 2015. Base...
Source: Annals of Coloproctology - Category: Gastroenterology Tags: Ann Coloproctol Source Type: research
Conclusion: The triple-staple technique is a safe alternative to the double-staple anastomosis after anterior resection. It also effectively shortens the operating time. PMID: 32054240 [PubMed - as supplied by publisher]
Source: Annals of Coloproctology - Category: Gastroenterology Tags: Ann Coloproctol Source Type: research
AbstractKey contentThe number of women attending gynaecological services who are taking oral anticoagulants and antiplatelet agents is increasing.Direct oral anticoagulants (DOACs) are becoming increasingly popular and offer an alternative to warfarin.Knowledge of the use of anticoagulants in the perioperative period is imperative to provide optimal care and ensure patient safety.It is essential that health professionals practising gynaecology, at all levels, keep up to date to reduce unnecessary cancellations, delays in treatment and increased risks of thrombosis and bleeding.Learning objectivesTo understand the managemen...
Source: The Obstetrician and Gynaecologist - Category: OBGYN Authors: Tags: REVIEWS Source Type: research
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