Treatment of Fournier's gangrene with negative pressure wound therapy in the course of sepsis - Case report.

INTRODUCTION: Fournier's Gangrene is a severe and rapidly progressing necrotic infection of the skin and fascia that can affect the external genitals, perineum, anus, and abdomen. It can extend to the abdominal cavity and result in necrosis of the soft tissue with a high mortality rate. This case gives a unique perspective on managing such a complicated infection in a smaller community hospital. PRESENTATION OF CASE: This report describes a particularly challenging case of Fournier's Gangrene in a 34 year old male with multiple pre-existing comorbidities, including alcohol use disorder, chronic kidney disease, and hepatitis B. Development of gangrene was preceded by sepsis. The patient's treatment was based on intravenous antibiotic therapy and early surgical intervention with extensive resection of necrotic tissue, supported by Hyperbaric Oxygen Therapy (HBOT) and Negative Pressure Wound Therapy (NPWT). DISCUSSION: The majority of the patient's treatment was done at a local community hospital with remote coordination with the Hyperbaric Medicine Center where the patient was temporarily transferred to for HBOT. Multiple treatment modalities were employed in this case of Fournier's gangrene, including intravenous antibiotic therapy, necrosectomy, chronic wound care with septic dressings and tissue debridement, HBOT and NPWT. Interdisciplinary cooperation between different medical specialists was crucial in treatment. CONCLUSION: The presented case shows that despite the large scale of difficulty and the complexity of treatment, it is possible to effectively manage Fournier's Gangrene in a local community hospital through interdisciplinary cooperation with specialized quaternary care centers. HBOT and NPWT proved to be useful treatment modalities.

A novel autosomal partially dominant mutation designated G476D in the keratin 5 gene causing epidermolysis bullosa simplex Weber-Cockayne type: a family study with a genetic twist.

Epidermolysis bullosa simplex Weber-Cockayne type (EBS-WC) is a genetically inherited skin disease characterized by blistering restricted to the palms and soles. Its inheritance in nearly all kindreds is caused by a dominant-negative mutation in either KRT5 or KRT14, the genes encoding keratin 5 and keratin 14 proteins, respectively. Rarely, recessive mutations have also been found. We described a family with EBS-WC caused by a novel autosomal dominant mutation (G476D) in the keratin 5 gene. One family member was first seen with mucosal erosions and generalized blisters localized on the anogenital area, trunk, face and sites of mechanical trauma. Molecular analysis in this patient showed the presence of an additional mutation, an autosomal recessive (G183E) one, in the same gene. This observation suggests an additional effect of a recessively inherited mutation modulating the phenotypic expression of EBS caused by a partially dominant mutation and is important for accurate genetic counseling.

Expression of high affinity choline transporter during mouse development in vivo and its upregulation by NGF and BMP-4 in vitro.

An important feature of cholinergic neurons is high-affinity choline transport, which allows them to reuse choline for the synthesis of ACh needed to support cholinergic neurotransmission. The choline transporter, designated CHT, was recently cloned. We applied RT/PCR to monitor the expression of CHT in the developing mouse CNS from embryonic day 14 (E14) to postnatal day 30 (P30). We found that CHT was expressed early in development, predominantly in the regions containing cholinergic neurons. In the spinal cord, CHT mRNA was present at close to adult levels at the earliest time point examined (E14) and showed almost no changes after birth. In the striatum and the septum, CHT mRNA increased steadily during embryonic stages and leveled off after birth. Surprisingly, CHT mRNA expression was also detected in other brain regions, notably in the cerebellum, where it peaked on E19, and then rapidly declined during postnatal development. CHT protein was detected by Western blotting as a band of apparent molecular weight of 70 kDa. The accumulation of this protein during development lagged behind mRNA accumulation in all tissues. We also examined the effects of NGF and BMP-4, the potent inducers of choline acetyltransferase and vesicular acetylcholine transporter genes, on CHT expression. Both factors increased CHT mRNA accumulation in primary septal cultures. The effect of NGF was dependent on the PI3K signaling, as it was abolished by the PI3K inhibitor LY294002. This result indicates that some of the signals regulating other cholinergic-specific genes also control CHT expression.

Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.

Mutation analysis in keratins 5/14 (K5/14) had been performed in five Polish families with epidermolysis bullosa simplex (EBS) to extend genotype-phenotype correlation and to add to the mutation database. All the patients had been clinically classified into two subtypes of EBS; Weber-Cockayne (EBS-WC) and Dowling-Meara (EBS-DM) as well as one case of EBS with mottled pigmentation (EBS-MP). DNA from patients and their family members was assessed for mutations in K5 or 14 using polymerase chain reaction amplification and subsequent direct sequencing. We identified four different missense mutations in K5 and one missense mutation in K14. Three of these are novel. Mutations associated EBS-DM resided in the highly conserved 20 amino acids end of the 1A domain in K5. Direct nucleotide sequencing of a case of EBS-MP revealed a heterozygous P25L mutation in K5. However, no genotype-phenotype correlation was identified in families with EBS-WC. The present study demonstrates the first series of molecular genetic data in EBS from Poland.