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The Vitamin B6-dependent epilepsies are a heterogeneous group of autosomal recessive disorders usually characterized by neonatal onset seizures responsive to treatment with vitamin B6 available as pyridoxine (PN) or as the biologically active form pyridoxal 5-phosphate (PLP). The vitamin B6-dependent epilepsies are caused by mutations in at least five different genes involved in B6 metabolism. A literature review revealed that only 30 patients with vitamin B6-dependent epilepsy caused by
mutation have been reported worldwide.
We report a case of baby boy born to first-cousin Pakistani parents who presented with generalized as well as focal seizures starting a few hours after birth and responsive to PLP. Whole exome sequencing revealed a homozygous pathogenic variant NM_007198.4c.46_47insCA, NP_009129.1p.Leu17Hisfs, causing a CA duplication resulting in a frameshift in the
gene.
Vitamin B6-Dependent Epilepsy due to
defect is a rare disorder. The developmental outcomes are variable even with early therapy. Few patients are reported to achieve optimal developmental milestones with therapy. PLP has been advocated as the treatment of choice for
defect, but oral PN has also demonstrated good seizure control in some patients, including ours.
Vitamin B6-dependent epilepsy due to
defect is an important differential diagnosis to consider in patients with biochemical features suggestive of pyridoxamine 5'-phosphate Oxidase (
) defect and gene testing can facilitate in reaching the correct diagnosis. Prompt diagnosis and treatment led to excellent seizure control in most patients.
Vitamin B6-dependent epilepsy due to PLPBP defect is an important differential diagnosis to consider in patients with biochemical features suggestive of pyridoxamine 5'-phosphate Oxidase (PNPO) defect and gene testing can facilitate in reaching the correct diagnosis. Prompt diagnosis and treatment led to excellent seizure control in most patients.
Solitary fibrous tumour (SFT), as are benign neoplasms of fibroblastic cells. Nasosinusal localisation is exremely rare, difficult to diagnose and to manage.
We report a rare case of Solitary fibrous tumour in the nasal cavity in a 47-year-old- woman, with complete surgical resection.
SFTs are of mesenchymal origin, mainly from serous membranes. The head and neck region is affected with a percentage ranging from 5 to 27%. On the other hand, LTS unusually affects the nasal tract (NTS). Because of this rarity and its variable morphological appearance, it is difficult to distinguish TNS from other mesenchymal lesions.
Although there are no standard clinical guidelines, the preferred treatment for FLS is radical surgical resection.
Although there are no standard clinical guidelines, the preferred treatment for FLS is radical surgical resection.
In managing cervical disc herniation, several treatment options are available. Anterior cervical decompression and fusion (ACDF) remain the gold standard in symptomatic cervical disc herniation. However, multilevel ACDF could diminish the motion of the segment. We planned to salvage the movement by only using single-level ACDF in our patient and osteophyte removal to reduce compression caused by spurs formation related to the herniated nucleus.
A male patient, 43 years old, came with a chief complaint of neck pain three months ago. Levofloxacin molecular weight The pain was intermittent, radiated into both hands. There was midline tenderness, and his sensation was decreased from the level of C5 below. We managed to diagnose the patient with Cervical Herniated Disc (CHD) using MRI and performed single-level ACDF.
After the operation, osteophyte formation was safely removed, the pain and the tingling sensation was no longer felt. The VAS score was reduced from 4 to 1. We observed good spinal fusion in the post x-ray imaging.
Anterior cervical discectomy and fusion after osteophyte removal proved successful for our patient treatment, with improvement from neck and arms symptoms. However, longer-term evaluation needs to be planned further to assess the result and possible complications of single-level ACDF.
Anterior cervical discectomy and fusion after osteophyte removal proved successful for our patient treatment, with improvement from neck and arms symptoms. However, longer-term evaluation needs to be planned further to assess the result and possible complications of single-level ACDF.Vascular lesions of gut are rare and they may rarely cause luminal obstruction in neonates. A baby boy born at 36 weeks of gestation presented with small bowel obstruction on day 3 of life. X-ray suggested small bowel obstruction. Contrast enema showed microcolon with multiple filling defects. Exploration revealed thin floppy gut with multiple segments of stenoses and dilatation with surface bluish discoloration but no perforation, two areas were resected. Proximal anastomosis was done and distally a stoma was formed. Histopathology showed vascular malformation in all the layers of gut. The diagnosis was impossible preoperatively and could be established after surgery only.[This corrects the article DOI 10.1016/j.amsu.2020.05.021.][This corrects the article DOI 10.1016/j.amsu.2020.04.040.][This corrects the article DOI 10.1016/j.amsu.2020.04.015.][This corrects the article DOI 10.1016/j.amsu.2020.05.035.][This corrects the article DOI 10.1016/j.amsu.2020.06.026.][This corrects the article DOI 10.1016/j.amsu.2020.06.006.][This corrects the article DOI 10.1016/j.amsu.2020.05.019.].
Despite increasing focus on health inequities in low- and middle income countries, significant disparities persist. We analysed impacts of a statewide maternal and child health program among the most compared to the least marginalised women in Bihar, India.
Utilising survey-weighted logistic regression, we estimated programmatic impact using difference-in-difference estimators from Mathematica data collected at the beginning (2012, n = 10 174) and after two years of program implementation (2014, n = 9611). We also examined changes in disparities over time using eight rounds of Community-based Household Surveys (CHS) (2012-2017, n = 48 349) collected by CARE India.
At baseline for the Mathematica data, least marginalised women generally performed desired health-related behaviours more frequently than the most marginalised. After two years, most disparities persisted. Disparities increased for skilled birth attendant identification [+16.2% (most marginalised) vs +32.6% (least marginalized),
< 0.01) and skin-to-skin care (+14.
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