Mitochondrial membrane protein-associated neurodegeneration: a case report and literature review

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an autosomal recessive disorder caused by mutation in the C19orf12 gene. We report a compound heterozygous c.[32C>T];[205G>A;424A>G] (p.[Thr11Met];[Gly69Arg;Lys142Glu]) Czech patient who manifested with right foot dystonia, impaired handwriting, attention deficit, and signs of iron accumulation on brain MRI. Gradually, he developed dysarthria, spastic-dystonic gait, pedes cavi, and atrophy of leg muscles. Additionally, we report demographic parameters, clinical signs, and allelic frequencies of C19orf12 mutations of all published MPAN cases. We compared the most frequent mutations, p.Thr11Met and p.Gly69ArgfsX10; the latter was associated with younger age at onset and more frequent optic atrophy in homozygotes.     

Acute coronary syndromes with ongoing myocardial ischemia (ACS with OMI) versus acute coronary syndromes without ongoing ischemia (ACS without OMI): The new classification of acute coronary syndromes should replace old classification based on ST segment elevation presence or absence—Expert consensus statement of the Czech Society of Cardiology

The Czech Society of Cardiology is proposing here the new classification of acute coronary syndromes at the time of the first medical contact. The proposal suggests to remove the terms “ST elevation myocardial infarction” and “non-ST elevation acute coronary syndrome” and to replace these terms by “acute coronary syndrome with ongoing myocardial ischemia” and “acute coronary syndrome without ongoing myocardial ischemia”. The proposed new classification better reflects current treatment approaches and will facilitate the decision making at the first medical contact.     

The occupation of intestinal epithelium by Trichinella spiralis in BALB/C mice is not associated with local manifestation of apoptosis related factors

Trichinella spiralis actively passes through the epithelial cells of the intestinal mucosa but morphologically, these cells do not manifest apparent damage. The possible activation of apoptotic mechanisms in the small intestine mucosa after infection with larvae and adults of Trichinella spiralis was explored by immunohistochemistry. Sporadic individual cells of normal intestinal epithelium showed activation of caspase-3, increased expression AIF, or Bax. The larval stage of intestinal trichinellosis was characterized by distortion of cells on the villus tips that were strongly reactive to caspase-3, Bax, and survivin antibodies. There was a transient loss of the survivin expression on the brush border of the epithelial cells at 15-h post infection, which reappeared on the fifth day. Bcl-2 changed its normal apical distribution and re-localized to the basal part of the epithelial cells. No significant changes of expression of the selected apoptosis-related proteins were observed in the intestinal epithelial cells immediately surrounding the worms. The presence of Trichinella affects intestinal epithelial cells, but unlike in muscle cells, invading them does not initiate apoptotic factors activation.     

Free Bipedicled Radial Forearm and Posterior Interosseous Artery Perforator Flap Phalloplasty

IntroductionThe free radial forearm (FRFA) flap is universally still considered as the gold standard technique in penile reconstruction. Typically, a considerably large flap is required, often involving almost the entire circumference of the forearm. Partial necrosis may occur at the distal-most (dorsoradial) part of the flap as a result of insufficient perfusion.AimTo describe a new technique using the posterior interosseous artery (PIOA) to supercharge FRFA phalloplasty.MethodsIn a 12-month period, all patients having FRFA flap phalloplasty were enrolled. Perioperative, after complete flap dissection, an indocyanine green perfusion scan was performed. In case of insufficient perfusion at the distalmost part of the flap, a supramicrosurgical anastomosis was performed between the FRFA pedicle and the PIOA (artery only).Main Outcome MeasuresStudied outcomes included the rate of marginal necrosis, surgical time, postoperative posterior interosseous nerve damage and urethral complications (fistula, stenosis or necrosis).ResultsA total of 27 FRFA flap phalloplasties was performed. Anastomosis of the PIOA was needed in 15 cases. No marginal necrosis was observed in these cases. There were no cases of postoperative posterior interosseous nerve damage. There were no significant differences in urethral complications (fistula, stenosis or necrosis) between the 2 groups.Clinical ImplicationsIn selected cases where insufficient perfusion of the dorsoradial part of the flap is present, patients may benefit from arterial supercharging to prevent postoperative marginal necrosis.Strength & LimitationsStrengths include a single surgeon, thus lending continuity of skill and technique, a consecutive series, and 100% short-term follow-up. Limitations include single institution series and a limited number of patients.ConclusionArterial supercharging is effective in improving perfusion of large FRFA flaps used in phalloplasty when dorsoradial hypoperfusion is detected on an indocyanine green perfusion scan. It is a technically challenging addition to the standard technique because of the small size of the vessels, the close relationship between the PIOA and the posterior interosseous nerve, and the vulnerability of the newly constructed intra-flap anastomosis.De Wolf E, Claes K, Sommeling CE, et al. Free Bipedicled Radial Forearm and Posterior Interosseous Artery Perforator Flap Phalloplasty. J Sex Med 2019;16:1111–1117.