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1.
Am J Dermatopathol ; 44(4): 257-259, 2022 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-34999596

RESUMEN

ABSTRACT: "Lipodissolve" (LD) is a non-FDA-approved solution of phosphatidylcholine in deoxycholate that was developed around 2004. A study of its safety reported minor and uncommon side effects including pain, tender nodules, pigmentary alterations, and ulceration at the site of injection. We present a 53-year-old woman who received LD injections bilaterally to her proximal arms. One week later, she developed painful nodules at each injection site. She was treated with a 10-day course of trimethoprim/sulfamethoxazole without improvement. An incisional biopsy was performed and showed deep dermal suppurative inflammation with numerous neutrophils and granulomas. Stains for bacteria, fungus, and acid-fast organisms were negative. Cultures for acid-fast bacilli grew Mycobacterium abscessus, sensitive to amikacin and clarithromycin. The patient was subsequently treated with intravenous amikacin, azithromycin, and bedaquiline with symptom resolution. Investigation revealed 3 similar infections linked to LD injections originating from the same physician's office. The most common organism implicated in injection infections is Staphylococcus aureus. Infections at injection sites caused by atypical mycobacteria have been reported to occur after tattooing, other types of injections, and implants. Of atypical mycobacteria, M. abscessus accounts for the greatest number of postinjection or iatrogenic infections. Common antitubercular drugs are not effective for treating atypical mycobacteria, making species identification and sensitivity testing imperative for treatment. This case highlights an unusual infection caused by cosmetic injections of LD, previously reported to be associated with minimal side effects, and the importance of examination for acid-fast bacilli and follow-up with culture, even in the absence of organisms identified on stained sections.


Asunto(s)
Tejido Adiposo , Infecciones por Mycobacterium no Tuberculosas/diagnóstico , Mycobacterium abscessus/aislamiento & purificación , Antibacterianos/uso terapéutico , Brazo , Técnicas Cosméticas/efectos adversos , Infección Hospitalaria/diagnóstico , Diagnóstico Diferencial , Femenino , Humanos , Inyecciones/efectos adversos , Persona de Mediana Edad , Infecciones por Mycobacterium no Tuberculosas/tratamiento farmacológico , Infecciones por Mycobacterium no Tuberculosas/etiología
2.
Pediatr Dev Pathol ; 24(1): 68-72, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33433253

RESUMEN

A term female infant with hypoplastic left heart syndrome underwent Norwood palliation including aortic and pulmonary amalgamation with arch reconstruction, atrial septectomy, and right ventricle to pulmonary artery conduit. Postoperatively, she experienced hypoxemia and lactic acidosis although echocardiogram showed adequate conduit function. She was placed on veno-arterial extracorporeal membrane oxygenation (ECMO) on postoperative day two with improvement. ECMO decannulation was attempted with subsequent cardiac arrest and ultimate failure to resuscitate, eleven days after surgery. Autopsy confirmed clinical findings and evidence of surgical intervention with a patent conduit and neo-aorta. Multiple subendocardial right ventricular dystrophic calcifications involving the outflow tract were identified grossly and histologically with foci of associated myonecrosis. Myocardial calcification may lead to abnormal heart wall motion by increasing rigidity and compromising myocyte function or compromising the conduction system. In this patient, right ventricular turbulence caused by systolic and diastolic flow patterns, including mild tricuspid regurgitation, may have played a role in inducing dystrophic calcification along with surgery and ECMO dependence. Compromised myocyte function from calcifications, right ventricular hypertrophy, lung immaturity, and persistent pulmonary hypertension were likely sources of cardiac strain leading to the patient's demise. This case represents a previously unreported complication of hypoplastic left heart syndrome treatment.


Asunto(s)
Calcinosis/etiología , Síndrome del Corazón Izquierdo Hipoplásico/cirugía , Miocardio/patología , Procedimientos de Norwood/efectos adversos , Autopsia , Calcinosis/patología , Resultado Fatal , Femenino , Insuficiencia Cardíaca/etiología , Insuficiencia Cardíaca/patología , Humanos , Síndrome del Corazón Izquierdo Hipoplásico/diagnóstico , Recién Nacido , Resultado del Tratamiento
3.
Am J Dermatopathol ; 43(12): e267-e272, 2021 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-34797807

RESUMEN

ABSTRACT: Cutaneous eruptions associated with hemophagocytic lymphohistiocytosis (HLH) have been reported in 6%-63% of patients. Clinical findings of these skin lesions vary widely and include maculopapular rashes, ulcers, and violaceous nodules. Corresponding histologic findings are also variable and are considered nonspecific. We report the case of a 4-year-old boy who initially developed a widespread popular-pustular rash 2 weeks after his 12-month measles, mumps, and rubella vaccinations. These resolved with scarring then recurred following his 24-month vaccinations. Multiple skin biopsies were negative for infectious organisms and showed a granulomatous infiltrate with perforation and necrobiosis. The differential diagnosis included perforating granuloma annulare, infection, or rheumatoid nodules. At the age of 4, he developed fever, hepatosplenomegaly, pancytopenia and other laboratory abnormalities, requiring hospitalization. A number of studies were performed including biopsies of bone marrow and liver. Molecular testing revealed 2 mutations in UNC13D known to be associated with familial HLH. His prior cutaneous lesions were likely caused by immune dysregulation exacerbated by immunizations because of underlying familial HLH. This case illustrates the importance of recognizing an unusual cutaneous manifestation of a rare disease to arrive at an earlier diagnosis in a pediatric patient. Although cutaneous eruptions usually develop concurrently with other systemic symptoms of HLH, preceding unusual skin lesions may be the first indication of this rare disease.


Asunto(s)
Erupciones por Medicamentos/genética , Linfohistiocitosis Hemofagocítica/complicaciones , Proteínas de la Membrana/genética , Vacunas/efectos adversos , Preescolar , Dermatitis/patología , Granuloma/patología , Humanos , Linfohistiocitosis Hemofagocítica/genética , Masculino , Mutación
6.
Clin Case Rep ; 6(10): 1947-1952, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-30349704

RESUMEN

We present the case of a 30-year-old woman with a history of perinatal complications as well as bladder and urinary disease through her childhood and adult life. Microarray comparative genomic hybridization (aCGH) analysis revealed a 1.3 megabase duplication at chromosome 8q21.11 encompassing the CASC9 and HNF4G genes.

7.
Crit Rev Oncog ; 22(5-6): 559-567, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29604931

RESUMEN

Monitoring minimal residual disease (MRD) is an important predictor of outcome in acute lymphoblastic leukemia (ALL) and is used in risk stratification, prognosis determination, and therapy guidance. Several laboratory techniques have proven utility for characterizing leukemic cells and following MRD through diagnosis, remission and possible recurrence. Methods for determining MRD are based on the detection of leukemia-specific aberrant immunophenotypes by mulitparameter flow cytometry or the evaluation of leukemia-specific rearranged immunoglobulin or T-cell receptor sequences by quantitative real-time PCR. Next-generation sequencing (NGS) is emerging as a new flexible and sensitive tool to detect MRD, which allows identification of clonal composition and scalable sensitivity depending on sequence coverage. As NGS becomes more accessible and affordable, guidelines should be established for its application to MRD surveillance.


Asunto(s)
Neoplasia Residual/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Pronóstico , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Inmunofenotipificación , Neoplasia Residual/complicaciones , Neoplasia Residual/epidemiología , Neoplasia Residual/patología , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicaciones , Leucemia-Linfoma Linfoblástico de Células Precursoras/epidemiología , Leucemia-Linfoma Linfoblástico de Células Precursoras/patología , Receptores de Antígenos de Linfocitos T/genética
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