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Carmi Syndrome
Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Presentation

Case presentation We chronicle the case of a pre-term infant with a birth weight of 2 kilograms, born at the 33rd week of gestation, who presented to the neonatal intensive care unit on the second day after birth. [ncbi.nlm.nih.gov]

Gastrointestinal

  • Chronic Diarrhea

    The high mortality of up to 80% in the first year of life is most often due to systemic sepsis (from skin infections) and/or chronic diarrhea with protein-losing gastroenteropathy, which occurs despite successful surgical correction of gastrointestinal [accessanesthesiology.mhmedical.com]

Psychiatrical

  • Suggestibility

    For this reason, some studies suggested withholding PA surgical correction to avoid unwarranted surgery-related sufferings [5]. [eurorad.org]

    The term spontaneous suggests a cause separate from necrotizing enterocolitis, ischemia, trauma from gastric intubation, distal intestinal obstruction, or accidental insufflation of the stomach during assisted ventilation 9. [journals.lww.com]

Workup

Further diagnostic workup revealed the presence of Carmi syndrome. The patient was treated surgically but eventually deteriorated and passed away. [ncbi.nlm.nih.gov]

X-Ray

  • Pneumoperitoneum

    Radiograph of the abdomen showed gross pneumoperitoneum. Routine blood investigations were normal. The child was started with intravenous fluid, nasogastric aspiration, and antibiotics – piperacillin with tazobactam, amikacin, and metronidazole. [journals.lww.com]

Treatment

Update on the Diagnosis and Anticoagulant Treatment of the Antiphospholipid Syndrome. EMJ Rheumatol. 2019;6(1):101-11. Vadgama TS, Smith A, Bertolaccini ML. Treatment in thrombotic antiphospholipid syndrome: a review. [revistamedicasinergia.com]

The surgical treatment of PA depends on the anatomic variety. PA displays three anatomic variations. [ncbi.nlm.nih.gov]

Prognosis

Prognosis is usually very poor. Death usually occurs during the first year of life, as a result of septic complications. e-Published: 16 May, 2013 [mona.uwi.edu]

After gleaning the mother's understanding of her infant's condition, the medical team clarified the grave prognosis of Carmi syndrome compounded by renal failure. [medical-dictionary.thefreedictionary.com]

Reviewing the literature, we found immunofluorescence microscopy to be most decisive examination to determine the prognosis of this severe disease. [openscience.ub.uni-mainz.de]

The long-term prognosis of EB–CPA depends on the severity of cutaneous manifestations. [journals.lww.com]

The disease has a poor prognosis due to prematurity, extensive skin loss associated fluid and electrolyte imbalance, malnutrition, respiratory morbidities, significant renal disease, and sepsis. [eurorad.org]

Etiology

NGP, irrespective of its etiology, is a surgical emergency. All NGP during surgery should be explored to identify any distal obstruction. [journals.lww.com]

In order to better elucidate the etiology underlying the patient's gastrointestinal symptoms, an upper gastrointestinal tract (GIT) contrast study was performed. [ncbi.nlm.nih.gov]

Epidemiology

The epidemiology of inherited epidermolysis bullosa: findings in the US, Canadian and European study population. In: Fine JD, Bauer EA, McGuire J, Moshell A, editors. [malattierare.regione.veneto.it]

Epidemiology of recurrent respiratory papillomatosis. APMIS 2010 Jun;118(6–7):450–4. [CrossRef] [Pubmed] 10.4103/2230-9748.76137 Mishra A, Singh DB, Verma V. Recurrent respiratory papillomatosis: The need for an Indian national registry. [ijcasereportsandimages.com]

Pathophysiology

Pathophysiology In junctional EB, blister formation in the plane of the lamina lucida results in separation of the epidermis from the basal lamina. [accessanesthesiology.mhmedical.com]

Prevention

Adequate premedication may prevent struggling with an uncooperative patient and thus help reduce resultant skin damage. The goal is to prevent trauma to skin and mucosal surfaces by appropriate positioning and padding. [accessanesthesiology.mhmedical.com]

Her community outreach projects aimed at preventing hereditary diseases and advancing women’s education in the Bedouin community. [natal.org.il]

"Community based program to prevent hereditary deafness among the negev bedouins in israel". J Med Genet. A15 (37). ^ Scott, D. A.; Carmi, R.; Elbedour, K.; Yosefsberg, S.; Stone, E. M.; Sheffield, V. C. (1 August 1996). [en.wikipedia.org]

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