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.
Objective: The objective of this study was to retrospectively review clinical data, management protocols, and clinical outcomes of patients with fibromatoses of head and neck region treated at our tertiary care center.
Methods: We retrospectively reviewed the medical records of 11 patients with confirmed histopathological diagnosis of fibromatosis registered in the Department of Head and Neck Surgery at Tata Memorial Centre, India, between 2009 and 2019. Various clinical and pathological features and treatment modalities were evaluated.
Results: Age at diagnosis ranged between 18 and 74 years, with a median age of 36 years. The female-to-male ratio was 5:6. Supraclavicular fossa (n=4) was the most common subsite of origin in the neck (n=8). The lateral (n=2) and posterior cervical regions (n=2) were other common neck subsites. Less commonly involved sites were the mandible (n=1), maxilla (n=1), and thyroid (n=1). A total of eight patients underwent surgery at other centers before being referred to us for further management. Out of a total 11 patients, nine patients had unresectable disease at presentation. Six of the patients with unresectable disease received a combination of weekly doses of vinblastine 6 mg/m2 and methotrexate 30 mg/m2 for a median duration of 6 months (range 6–18 months) followed by hormonal therapy with tamoxifen. Three patients received metronomic chemotherapy followed by hormonal therapy. One treatment-naive patient with fibromatosis of posterior cervical (suboccipital) region underwent R2 resection (excision of bulk of the tumor with preservation of critical structures) at our center along with adjuvant radiotherapy. One pregnant patient reported to us after undergoing surgery outside and defaulting radiotherapy. During median follow-up of 29 months (range 1–77 months), six patients had stable disease, and four patients had disease reduction. Disease progression was seen in one patient. The two-year progression-free survival (PFS) was 90% (95% CI 70%–100%).
Conclusion: Gross residual resection (R2) was the mainstay of surgical treatment in our series as obtaining clear surgical margins is seldom possible in these locally aggressive tumors. Radiotherapy, chemotherapy, and hormonal therapy are the other preferred and more conservative treatment modalities. The goal of surgery should be preserving function with minimal or no morbidity. As fibromatoses in the head and neck region are extremely rare, their treatment awaits the development of standard treatment protocols.
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.
Objective: Acute pancreatitis is a serious diagnosis with an increasing incidence in the Western world. In this study we sought to investigate the incidence of idiopathic AP and to compare clinical and prognostic characteristics of idiopathic cases with cases of AP with known etiology.
Methods: In this retrospective study of adult hospitalized patients diagnosed with acute pancreatitis between 2012 and 2015, a comparison was made between admissions of patients with known etiology and those for whom no cause was found. Primary outcome was defined as composite outcome of 30-day mortality and complications.
Results: Among 560 admissions of 437 patients with a primary diagnosis of acute pancreatitis, the main factors identified were gallstones (51.2%) and idiopathic pancreatitis (35.9%), with alcohol ranked third at only 4.8%. Mortality rate within 30 days of hospitalization was 2.9% and within one year was 7.1%. Use of lipid-lowering, anti-hypertensive, and anti-diabetic medications was more frequent among patients with “idiopathic” disease (70%, 68%, and 33% versus 59%, 56%, and 27%, respectively). Patients admitted with idiopathic AP, in comparison to patients with known AP etiology, had milder disease with shorter hospital stay (3 days versus 4, respectively), and less re-admission in 30 days (7.5% versus 21.2%). Idiopathic AP patients had better prognosis in terms of 30-day death and complication (HR 0.33, 95% CI 0.08–0.40, P<0.001).
Conclusion: Idiopathic disease is common among acute pancreatitis patients; the two study groups differed in severity of disease and prognosis. Common use of medications with doubtful value suggests possible under-diagnosis of drug-induced acute idiopathic pancreatitis.
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.
Determining appropriate care for patients who cannot speak for themselves is one of the most challenging issues in contemporary healthcare and medical decision-making. While there has been much discussion relating to patients who left some sort of instructions, such as an advance directive, or have someone to speak on their behalf, less has been written on caring for patients who have nobody at all available to speak for them. It is thus crucial to develop clear and rigorous guidelines to properly care for these patients. The Jewish tradition offers an important perspective on caring for unrepresented patients and determining approaches to guide care providers. This article develops an understanding of fundamental Jewish principles that can provide clear guidance in navigating this challenge. It applies those values to a specific set of suggested behaviors, one of which adds a novel ritualized component to what has been recommended by bioethicists in the past.
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.
This research letter presents our study, which sought to evaluate the differences in the prevalence of self-reported symptoms of depression, anxiety, and loneliness between younger and older generations at the time of the COVID-19 pandemic. Since the younger generation is generally less accustomed to facing and dealing with adversity and illness, we hypothesized that adolescents and younger adults would have a higher prevalence of depression, anxiety, and loneliness as compared to the older generation. It must be emphasized that this survey was conducted during the first COVID-19 lockdown that occurred in Israel from mid-March 2020 to early-May 2020. This was a time when businesses were closed, individuals and families were isolated at home with very limited social contact, and feelings of fear and panic were fueled by the electronic media.
