Mutations in FGF23, KL, and GALNT3 have been identified as the cause for the development of hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC typically present in childhood or adolescence with periarticular soft tissue deposits that eventually progress to disrupt normal joint articulation. Mutations in the GALNT3 gene were shown to account for the hyperphosphatemic state in both HFTC and hyperostosis-hyperphosphatemia syndrome (HHS), the latter characterized by bone involvement. We present the case of a patient of a Druze ethnic origin with known HFTC that presented to our department with the first documented case of pathologic fracture occurring secondary to the disease. Our report introduces this new phenotypic presentation, suggests a potential role for prophylactic bone screening, and highlights the need for preconception genetic screening in selected populations.
Gaucher disease (GD) is an autosomal recessive disease characterized by the buildup of glucocerebrosides in macrophages, resulting in the formation of “Gaucher cells.” These cells predominantly infiltrate the liver, spleen, and bone marrow leading to hepatosplenomegaly, cytopenia, and bone pain. Anemia in GD is typically considered to result from non-hemolytic processes. Although rare, a higher rate of hemolytic anemia of the autoimmune type has been reported in GD than in the general population. The literature on non-immune hemolytic anemia in GD is scarce. We review the literature on hemolytic anemia in GD and report on a case of non-immune hemolytic anemia secondary to GD. We believe this is the first description of a patient with confirmed GD and symptomatic non-immune hemolytic anemia that responded to GD-specific treatment.
TO THE EDITOR
We read with interest the report by Yeshayahu about four minors who were diagnosed late with non-COVID-19 diseases during the COVID-19 pandemic (Rambam Maimonides Med J 2021;12:e0017. doi: 10.5041/RMMJ.10431 ). We would like to emphasize that, firstly, such delays are not limited to minors, and secondly, that also in minors should we distinguish the administrative and the physiological meanings of the term “child” and hence distinguish administratively defined “chil¬dren” who bodily are already mature from those young patients who bodily are indeed still children.
TO THE EDITOR
I read with interest the letter by Klaus Rose et al. regarding the article about delayed diagnosis of severe medical conditions during the coronavirus disease 2019 (COVID-19) pandemic.1 The author stressed the importance of recognizing that delayed presentation of patients, during the COVID-19 pandemic, was not limited to the pediatric population. I agree with this important point, and the article does not claim otherwise. The presented cases are pediatric, given that they took place in a pediatric department, but it is reasonable to assume that adults have faced the same challenges.
This review examines the risk of developing celiac disease (CD) and other autoimmune diseases in individ¬uals receiving the rotavirus (RV) vaccine compared to the normal population. Celiac disease is a malabsorp¬tive, chronic, immune-mediated enteropathy involving the small intestine. The pathogenesis of CD is multifactorial, and mucosal immunity plays an important role in its development. Low mucosal IgA levels significantly increase the risk of developing the disease. Rotavirus is an infectious agent that causes diar¬rhea, particularly in children aged 0–24 months, and is frequently involved in diarrhea-related deaths in these children. An oral vaccine against RV has been developed. While it is effective on RV infection, it also contributes to increasing mucosal immunity. Studies have indicated that individuals immunized with the RV vaccine are at lower risk of developing CD than unvaccinated individuals. In addition, the mean age for developing CD autoimmunity may be higher in the vaccinated group than in controls receiving placebo. Additional studies that include children immunized with different RV vaccines and unvaccinated children would provide more meaningful results. Although current data suggest a possible association of RV vaccina¬tion with a reduced risk of developing CD and other autoimmune diseases, this remains an unanswered question that merits greater international investigation.
The Jews in Western Europe during the middle ages were often perceived as distinct from other people not only in their religion, but also by virtue of peculiar physical characteristics. Male Jews were circumcised, which made them physically distinct in the sexual realm. They were believed to have a flux of blood due to hemorrhoids that was thought to more abound in Jews because they consumed salty foods and gross undigested blood, and were melancholic. By the late medieval and early modern periods, the male menstru¬ation motif had become closely connected to the theory of the four humors and the balance between bodily fluids. Men in general were thought of as emitting extra heat, whereas women were considered to be phys¬ically cooler. While most men were generally able to reduce their heat naturally, there was a perception that womanish Jewish males were unable to do so, and thereby required “menstruation” (i.e. a literal discharge of blood) in order to achieve bodily equilibrium. The Jewish male image as having menses due to bleeding hemorrhoids was an anti-Semitic claim that had a religious explanation: Jews menstruated because they had been beaten in their hindquarters for having crucified Jesus Christ. This reflection is one of the first biological-racial motifs that were used by the Christians. Preceding this, anti-Semitic rationalizations were mostly religious. However, once these Christians mixed anti-Semitism with science, by emphasizing the metaphorical moral impurity of Jews, the subsequent belief that Jewish men “menstruated” developed—a belief that would have dire historical consequences for the Jewish communities of Europe until even the mid-twentieth century. This topic has direct applicability to current medical practice. The anti-Semitic perspec¬tive of Jewish male menstruation would never have taken hold if the medical community had not ignored the facts, and if the population in general had had a knowledge of the facts. In the same way, it is important for present-day scientists and healthcare professionals to understand thoroughly a topic and not to deliberately ignore the facts, which can affect professional and public thought, thereby leading to incorrect and at times immoral conclusions.
Objective: Israeli hospitals were confronted with a major national outbreak of carbapenemase-producing Enterobacterales (CPE) starting in 2006, caused predominantly by monoclonal Klebsiella pneumoniae carbapenemase (KPC)-producing Klebsiella pneumoniae. Our hospital, Rambam Health Care Campus (RHCC), was one of the medical centers affected by this outbreak. We aimed to investigate the changing epidemiology of CPE at RHCC since 2006.
Methods: This was a retrospective observational cohort study performed in Northern Israel (Haifa) at RHCC, which is a primary tertiary acute care academic hospital. The study included all patients who had acquired CPE at RHCC between January 2005 and December 2020.
Results: The proportion of patients infected with K. pneumoniae dropped from 100% of all CPE in the first years to 28% (37/134) in 2020. In 2014, the carbapenemase in 94% of all CPE patients (89/95) was KPC. This decreased to 56% in 2020, while New Delhi metallo-β-lactamase (NDM) and OXA-48 carbapenemases increased from 4% and 2% to 29% (39/134) and 12.7% (17/134) of CPE, respectively.
Conclusions: The CPE epidemic evolved from KPC-producing K. pneumoniae to involve different Enterobacterales and carbapenemases. Our results are a microcosm of the current global epidemiology attesting to globalization in bacteriology. The results have implications for infection control and antibiotic treatment of CPE infections.
In the management of malignant thyroid disorders, the standard primary treatment is thyroidectomy, a surgical resection of the thyroid gland. This procedure has been performed for over a century. Hence, it comes as no surprise that it is not only exceedingly well-described in the literature. This issue of Rambam Maimonides Medical Journal includes an article by Chaturvedi et al. that challenges the standard widely-practiced clinical inclination toward surgery as the first and best option for all patients with early thyroid cancer. This editorial discusses the issues raised by the authors and points out the importance of ongoing research to determine when standards of care should be modified in the light of low-risk disease.
Background and Objective: Postoperative (post-op) pain control has an important impact on post-op rehabilitation. The logistics of its maintenance challenge the effect of peripheral nerve block on post-op pain control, with the risk for post-op complications. We hypothesized that perioperative use of local infiltration analgesia (LIA) is comparable to post-op pain control by peripheral nerve block.
Materials and Methods: We evaluated three groups of patients treated with primary total knee arthroplasty (TKA) due to symptomatic end-stage osteoarthritis with post-op pain control by LIA (LIA group, n=52), femoral plus sciatic nerve block (FSNB) (FSNB group, n=54), and without local or regional analgesia as controls (Control group, n=53). The primary outcome variable was the post-op pain level intensity as measured by the visual analog scale (VAS). Secondary outcome variables were knee function measured by the Knee Society Score (KSS) and the quadriceps muscle strength recovery profile.
Results: Up to 4 hours post-op, pain intensity was significantly lower in FSNB patients (P<0.05). This effect of the peripheral nerve block on the pain level disappeared 6 hours post-op. The LIA and FSNB patients showed a significant decrease in pain intensity on days 2 and 3 post-op (P<0.05) with no mutual differences (P>0.05). This effect disappeared on day 4 post-op (P>0.05). The KSS score showed similar significant improvement of functional abilities (P<0.001) in all three groups. There was no difference in KSS scores among the groups 6 months after surgery (P>0.05). Quadriceps muscle recovery profile was similar in the LIA and Control groups, but significantly poorer in the FSNB group (P<0.001).
Conclusion: The value of very short-term and improved pain relief of post-op FSNB over LIA of the surgical wound should be carefully weighed against its cost, logistics, and potential complication threat.
Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a rare systemic small-vessel disease, with heterogeneous clinical manifestations. While arthralgia and myalgia are common in the disease course, frank myositis is exceedingly rare. Immune-mediated necrotizing myopathy (IMNM) is a subtype of idiopathic inflammatory myopathies (IIMs), characterized by severe myositis. We report herein a case of prominent diffuse myositis with shared features of AAV and IMNM.
