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NOS-dependent results of plantar physical stimulation about mechanised traits and cytoskeletal protein in rat soleus muscle tissue in the course of hindlimb insides.
Lymphangioleiomyomatosis (LAM) is a progressive cystic lung disease which mostly affects premenopausal women and could be exacerbated by pregnancy. Therefore, it is thought that oestrogen plays an important role in LAM pathogenesis. Here, a case of LAM is described in which the first presentation of symptoms occurred during the third trimester of pregnancy. Symptoms included acute onset dyspnoea and chest pain at gestational age of 39 weeks and 2 days. A CT was performed which showed multiple thin-walled cysts and a small pneumothorax. Serum levels of vascular endothelial growth factor-D (VEGF-D) was 1200 pg/mL. The typical cystic lung changes on chest CT in combination with elevated VEGF-D is diagnostic for LAM. Given the risk of respiratory complications, the decision was made to deliver the baby at a gestational age of 39 weeks and 6 days by a planned caesarean section. Both mother and child were discharged home in good condition.This report describes the variation in presentation of two unrelated patients found to have a rare form of presynaptic congenital myasthenic syndrome. Both patients presented with hypotonia, ptosis, poor weight gain and apneic episodes. Through whole exome sequencing, our patients were found to have the same likely pathogenic biallelic variants in W315X and I200N of SLC18A3, encoding vesicular acetylcholine transporter (VAChT). These specific variants in SLC18A3 have not been previously described in the literature. We illustrate the variety in clinical presentation and course of children with mutations in SLC18A3, leading to presynaptic congenital myasthenic syndrome through VAChT deficiency.An 18-year-old primigravida was referred to our high risk pregnancy (HRP) department at 34 weeks of gestation for birth panning as she has Budd-Chiari syndrome (BCS). Her history was significant for familial thrombophilia. selleck chemicals llc She had portal hypertension manifestations. Her work-up revealed factor V Leiden gene mutation, hepatic and portal vein thrombosis. A multidisciplinary team of physicians from the gastroenterology and hepatology, haematology and HRP departments puts a management plan; it culminated into safe delivery of the patient at 36 weeks of gestation. The patient was referred to a specialised BCS centre where she had successful liver transplantation done.Hyponatraemia is one of the most common and serious electrolyte abnormalities in patients with neurological diseases. Assessing the intravascular fluid status, urine sodium, urine and serum osmolality helps to narrow down the differential diagnosis. Differentiation between cerebral salt-wasting syndrome (CSWS), diabetes insipidus and syndrome of inappropriate antidiuretic hormone (SIADH) secretion is absolutely necessary for correct management of hyponatraemia in this group of patients. In this case report, we have presented a 46-year-old gentleman who was admitted to intensive care unit (ICU) with status epilepticus and developed hyponatraemia during course of his ICU stay, diagnosed as CSWS and managed with normal saline and fludrocortisone. His serum sodium gradually improved, consciousness was regained and later shifted to general ward on antiepileptic treatment.SARS-CoV-2 is the cause of COVID-19. Since the outbreak and rapid spread of COVID-19, it has been apparent that the disease is having multi-organ system involvement. Still its effect in the endocrine system is not fully clear and data on cortisol dynamics in patients with COVID-19 are not yet available. SARS-CoV-2 can knock down the host's cortisol stress response. Here we present a case of a 51-year-old man vomiting for 10 days after having confirmed COVID-19 infection. He had hypotension and significant hyponatraemia. Work-up was done including adrenocorticotropic hormone stimulation test. He was diagnosed as suffering from adrenal insufficiency and started on steroids with subsequent improvement in both blood pressure and sodium level. COVID-19 can cause adrenal insufficiency. Clinicians must be vigilant about the possibility of an underlying relative cortisol deficiency in patients with COVID-19.Morning glory disc anomaly (MGDA) is most commonly found in white females in childhood with reduced vision. One in two cases have been reported to develop maculopathy or posterior pole retinal detachment as they grow older. The pathophysiology of MGDA-associated maculopathy is not well understood.We describe a 31-year-old black woman, who presented with gradual reduction of vision in the right eye due to MGDA-associated maculopathy. We identified morphological characteristics of the optic disc and macula with multicolour and optical coherence tomography imaging.We speculate that the centripetal inner retina traction and cerebrospinal fluid pressure fluctuation play an important role in inner retinal fluid accumulation in the pathology of retinoschisis in MGDA. Further studies will shed some light of a potential cause-and-effect relationship between MGDA and retinoschisis.Neonates are at highest risk of thrombosis among paediatric patients. The relative prothrombotic state in a well neonate is compensated by other factors preventing spontaneous thrombosis; however, in a neonate with genetic predisposition, the balance is tilted predisposing them to a life-threatening thrombotic episode. We describe a rare case of methylenetetrahydrofolate reductase A1298C (homozygous) mutation along with plasminogen activator inhibitor (4G) mutation in a neonate who developed bilateral lower limb gangrene following thrombosis of the iliac vessels without any triggering factor. The neonate underwent thrombectomy as debulking measure along with thrombolytic therapy followed by unfractionated heparin and low-molecular-weight heparin which is still being continued along with oral aspirin. The neonate had to undergo amputation of both the involved lower limbs in view of dry gangrene. This case highlights that the dual mutations causing the prothrombotic state predispose the individual to the spontaneous life-threatening thrombotic episode as compared with the single mutation.We describe a case of a woman diagnosed at the age of 35 years with a generalised mediastinal and abdominal lymphangiomatosis associated with a protein losing enteropathy, who successfully improved when treatment with sirolimus was initiated.
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