Unusual immunophenotype of CD8+ T cells in familial hemophagocytic lymphohistiocytosis

Familial hemophagocytic lymphohistiocytosis (FHL) is an inherited, fatal disorder of infancy. We report here a 17-day-old female infant who presented with high fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, thrombocytopenia, and liver failure. Leukocytosis was detected with circulating "atypical" lymphoid cells. Flow cytometric studies revealed expanded subpopulations of CD8+ T cells with unusual immunophenotypic features, including a subset that lacked CD5 expression. A liver biopsy showed hemophagocytic lymphohistiocytosis with exuberant infiltrates of CD8+ T cells that lacked perforin. Mutational studies revealed a 666C-->A (H222Q) missense mutation in the perforin gene. T-cell receptor studies on flow-sorted T-cell subpopulations revealed no evidence of monoclonality. Analysis of T-cell receptor excision circle levels indicated long proliferative history in the aberrant CD8+ T-cell subsets. This case provides an instructive example of uncontrolled reactive proliferation of CD8+ T cells in FHL, resulting in atypical morphology and unusual immunophenotypic features that might suggest malignancy in other clinical settings.     

The prevalence and significance of monoclonal gammopathy of undetermined significance in acute medical admissions

Monoclonal gammopathy of undetermined significance (MGUS) affects 3·2% of adults aged >50 years. MGUS carries a life-long risk of progression to multiple myeloma and causes complications including infection and renal impairment; common causes of hospital admission. This study aimed to assess MGUS prevalence in emergency medical hospital admissions. Patients were recruited from unselected emergency medical admissions in a hospital in the United Kingdom. Serum protein electrophoresis was performed, with immunofixation of abnormal results. Reason for admission and routine test results were recorded. After education about MGUS and myeloma, patients chose whether they wished to be informed of new diagnoses. A total of 660 patients were tested and 35 had a paraprotein suggestive of MGUS. The overall rate of MGUS was 5·3%. MGUS prevalence in those aged >50 years was 6·94%, higher than the previously published rate of 3·2% (P < 0·0005). There were higher rates in those with chronic kidney disease (13·75% vs. 4·14%, P = 0·002), heart failure (14% vs. 4·59%, P = 0·012), anaemia (8·96% vs. 3·41%, P = 0·003) or leucocytosis (9·33% vs. 3·04%, P = 0·002). In all, 96% of patients wished to be informed of their screening results. The prevalence of MGUS in emergency hospital admissions is higher than expected based on previous population-based rates. This may suggest a selected population for screening.     

Post-Resection Surveillance in GI Cancers

Recurrence after curative resection of gastrointestinal (GI) cancers is common. Early detection of resectable recurrences may result in a curative resection. In un-resectable recurrences, early detection may improve the quality of life by palliation or with the use of newer chemotherapeutic drugs. The guidelines regarding follow-up of patients after curative resection of GI cancers are from the West which is very different from the Indian population in terms of a disease pattern and social milieu. The guidelines which are commonly used are also not strictly followed. We have proposed in this article the protocols which we follow at our centre after curative resection of GI cancer and how these are different from the guidelines proposed by the West.     

Physicians’ Attitudes and Experiences with Medical Aid in Dying in Colorado: a “Hidden Population” Survey

BackgroundApproximately 20% of the US population live in states where MAiD is a legal, though highly contentious, practice. Little generalizable data exists on the experiences of MAiD providers who comprise a small, and intentionally hidden, population.ObjectiveTo examine the nature, extent, and consequences of physicians’ participation in MAiD.DesignAn anonymous, multi-wave, mailed survey (RR= 55%).ParticipantsAn enriched sample (n=583) of Colorado physicians caring for potential MAiD patients.Main MeasuresPhysician willingness, preparedness, and participation in a continuum of MAiD activities. Other outcomes include the effects of providing MAiD and the barriers physicians face related to MAiD.Key ResultsOverall, 81.1% of respondents were willing to discuss MAiD with a patient, 88.3% to refer for MAiD, 46.3% to be a consultant, and 28.1% to be an attending. Fewer felt prepared to discuss MAiD (54.4%), provide a MAiD referral (62.8%), be a consultant (30.7%), or be an attending (18.0%). More than half of respondents (52.3%) had discussed MAiD with a patient, 27.3% provided a MAiD referral, 12.8% had been a MAiD consultant, and 8.5% had been a MAiD attending. Among MAiD consultants and attendings, 75% reported that their most recent MAiD case was emotionally fulfilling and professionally rewarding, though 75% also reported that it was time consuming and 46.9% reported that it was ethically challenging. Common barriers to physician participation in MAiD include lack of knowledge about MAiD (46.8%), the emotional (45.6%) and time (41.7%) investments, and ethical concerns (41.7%).ConclusionsMany physicians in our sample are both willing and prepared to discuss MAiD with patients and to provide MAiD referrals. Fewer are prepared and willing to serve as an attending or consultant and fewer have provided these services. MAID consultants and attendings largely report the experience to be emotionally fulfilling and professionally rewarding, but all respondents reported multiple barriers to participation.Supplementary InformationThe online version contains supplementary material available at 10.1007/s11606-021-07300-8.KEY WORDS: physician assisted death, physician assisted suicide, medical aid in the dying     

Delayed diagnosis of a retained guidewire after bedside femoral venous catheter insertion: A preventable complication

Central venous catheter (CVC) insertion is a commonly performed procedure that is used for continuous invasive hemodynamic monitoring, fluid resuscitation, drug therapy, and hemodialysis. CVC placement can be associated with serious complications that are mostly preventable. One of these complications is the loss of the guidewire within the intravascular space, which carries a high morbidity and mortality. Here, we describe a 44-year old patient who presented with acute kidney injury and metabolic derangements that necessitated bedside right femoral dialysis catheter to initiate emergent renal replacement therapy. A day after the catheter insertion, the guidewire was noted on a routine chest X-ray extending into the base of the skull. The clinical course was complicated with cerebral infarction. Subsequently, the retained guidewire was removed a few days after the CVC insertion. In summary, the retained guidewire within the circulation is associated with potentially life-threatening and hazardous outcomes. Continuing education, vigilant supervision, and implementing certain protocols are likely to prevent such undesirable events.     

Onychocryptosis – decrypting the controversies

Onychocryptosis, or ingrown toenail, is a frequent, painful condition affecting young individuals. Controversies still exist regarding its etiopathogenesis and treatment options, including conservative and surgical techniques. The choice of treatment method depends on the stage of disease as conservative measures are mostly effective in early stages and surgical procedures are required in the later stages. Among surgical techniques, phenol cauterization of lateral nail matrix has been the most effective, safe, and commonly performed method. Other more destructive surgical procedures are rarely done nowadays. In this review, we briefly discuss the etiopathogenesis, clinical features, and different treatment options of ingrown toenail.