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PURPOSE: The objective of this study was to evaluate the feasibility and safety of a minimally invasive percutaneous plate osteosynthesis (MIPPO) procedure for proximal humeral shaft fractures using lateral minimal proximal and distal approaches and lateral bridge plating with primary radial nerve control, and to assess its clinical and radiographic outcomes. METHODS: A retrospective review was done for the medical records of adult patients admitted for fracture of the proximal humeral shaft without associated injury to the ipsilateral upper limb and who consented to undergo a novel MIPPO technique herein reported. Patients were reviewed at regular follow-up periods and assessed at a final follow-up for evaluation of Constant, normalized Constant, and QuickDASH scores. RESULTS: There were 21 adult patients with mean age of 56 years. Three patients were lost from early follow-up; one of them had post-operative radial nerve paralysis. Eighteen patients were reviewed for the purpose of this study at a mean of 20 months of final follow-up; among them, one patient developed post-operative radial nerve paralysis with complete recovery after three months. Bone healing was achieved without any malalignment in 17 patients at a mean of 15 weeks, and one patient developed nonunion. At final assessment (mean, 20 months), the mean values of Constant, normalized Constant, and QuickDASH scores were 84 (range, 59 to 100), 95 (range, 73 to 100), and 5 (range, 0 to 18.2) respectively. CONCLUSION: Compared to pre-reported methods of MIPPO, this technique of lateral proximal and distal mini-approaches with lateral bridge plating after primary control of the radial nerve seems safe and feasible for proximal humeral shaft fractures. It gives good clinical and radiographic results with excellent restoration of upper limb function, very low incidence of post-operative radial nerve injury, and high rate of bone union in good alignment.
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Fracturas del Húmero , Adulto , Placas Óseas , Fijación Interna de Fracturas/efectos adversos , Curación de Fractura , Humanos , Fracturas del Húmero/diagnóstico por imagen , Fracturas del Húmero/cirugía , Húmero , Persona de Mediana Edad , Procedimientos Quirúrgicos Mínimamente Invasivos , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Phenotypic heterogeneity is often observed in patients with telomeropathies caused by pathogenic variants in telomere biology genes. However, the roles of recessive variants in these different phenotypes are not fully characterized. Our goal is to describe the biological roles of a novel homozygous RTEL1 variant identified in a consanguineous Lebanese family with unusual presentation of telomeropathies. A proband was screened for germline variants in telomere biology genes by whole exome sequencing. Leukocytes' telomere length was measured in the proband and eight relatives. We identified a novel homozygous p.E665K RTEL1 variant in the proband, his mother, and seven siblings that associated with telomere shortening and a broad spectrum of clinical manifestations, ranging from mild unspecific findings to severe phenotypes. Consanguinity in at least three family generations led to increased frequency of the homozygous p.E665K variant in the youngest generation and progressive telomere shortening. The increased frequency of the homozygous RTEL1 variant due to consanguinity in this Lebanese family allowed us to infer novel behaviors of recessive RTEL1 variants, as the expressivity and penetrance of this gene are very heterogenous between inter- and intra-generations. Progressive telomere shortening was associated with disease anticipation, first reported in recessive autosomal telomeropathies. Both genetic testing and telomere length measurement were critical for the clinical diagnosis of this family with telomere diseases marked by phenotypic heterogeneity.
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Consanguinidad , ADN Helicasas/genética , Enfermedades Genéticas Congénitas/epidemiología , Homocigoto , Mutación , Telómero/genética , Adolescente , Adulto , Femenino , Enfermedades Genéticas Congénitas/genética , Humanos , Líbano/epidemiología , Masculino , Persona de Mediana Edad , Linaje , Fenotipo , Adulto JovenAsunto(s)
Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/secundario , Linfoma Cutáneo de Células T/etiología , Linfoma Cutáneo de Células T/patología , Receptores de Antígenos de Linfocitos T gamma-delta/metabolismo , Subgrupos de Linfocitos T/metabolismo , Subgrupos de Linfocitos T/patología , HumanosAsunto(s)
Anemia Hemolítica Autoinmune , Eritema Infeccioso , Parvovirus B19 Humano , Aplasia Pura de Células Rojas , Anemia Hemolítica Autoinmune/inmunología , Anemia Hemolítica Autoinmune/patología , Anemia Hemolítica Autoinmune/virología , Niño , Eritema Infeccioso/inmunología , Eritema Infeccioso/patología , Femenino , Humanos , Aplasia Pura de Células Rojas/inmunología , Aplasia Pura de Células Rojas/patología , Aplasia Pura de Células Rojas/virologíaRESUMEN
We report the case of a 2-year-old Lebanese male child, known to have congenital factor XIII (FXIII) deficiency, who presented to the emergency department with somnolence and projectile vomiting without any head trauma. He has been on a prophylactic dose of 10 IU/kg of FXIII concentrate every 4 weeks since birth, but he missed his last 2 doses due to shortage of supply. Imaging studies showed an epidural hematoma with a midline shift. The child was started on 20 IU/kg of FXIII replacement, and a left parietal craniotomy was performed immediately. He tolerated the surgery well with an uneventful postoperative course. Previous DNA analysis carried out for the family members detected a small deletion (c.1475-1476delGA) in exon 12 in this child and his eldest brother. This mutation has been previously reported once in another Lebanese child with FXIII deficiency who presented with spontaneous splenic rupture. To the best of our knowledge, this is the first case of acute nontraumatic spontaneous epidural hematoma in a child with congenital FXIII deficiency. Furthermore, patients on FXIII replacement therapy have less bleeding events, thus lifelong adherence to the prophylaxis is essential to decrease the morbidities and the mortalities associated with FXIII deficiency, most notably intracranial hemorrhages.
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Deficiencia del Factor XIII/complicaciones , Hematoma Epidural Craneal/sangre , Hematoma Epidural Craneal/etiología , Preescolar , Servicios Médicos de Urgencia , Factor XIII/genética , Factor XIII/uso terapéutico , Deficiencia del Factor XIII/tratamiento farmacológico , Deficiencia del Factor XIII/genética , Hematoma Epidural Craneal/cirugía , Humanos , MasculinoRESUMEN
Objectives: The World Health Organization has promoted the use of serological testing as a rapid and accurate technique for the detection of immunity against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). In Lebanon, a better understanding of the immune response against SARS-CoV-2 is needed to develop effective measures for prevention and to plan an appropriate national vaccination program. This study aimed to measure the immunity status in Lebanon. Methods: In this cross-sectional study, the population comprised male and female Lebanese and non-Lebanese residents of Lebanon between the ages 15 and 75. The exclusion criteria included: same household, symptomatic individuals, and extremes of age (< 15 and > 75). Representative testing for SARS-CoV-2 antibodies (anti-SARS-CoV-2 electrochemiluminescence immunoassay/ECLIA) was used to assess the prevalence of SARS-CoV-2 infection in Lebanon. Results: In total, 13 755 participants were recruited over a 6-month period. Of these, 3168 (23.03%) individuals tested positive for anti-SARS-CoV-2, with levels of positivity varying among districts. A higher level of seropositivity was detected in the female participants. Conclusion: Seroprevalence against SARS-CoV-2 varied within Lebanon, but was comparable to the levels reported in the MENA region at the time of the study. The seroprevalence documented in this study represents a level of immunity that is not protective at the national level. Funding: This study was funded by the Lebanese American University School of Medicine.
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Constitutional Mismatch Repair Deficiency (CMMRD) is a rare cancer predisposition syndrome, presenting in childhood, in which affected patients develop various malignancies such as hematological, gastrointestinal and central nervous system tumors. Although guidelines are being increasingly developed for surveillance and early detection of cancers in affected families, there are no clear recommendations regarding choice of therapy and very scarce information about tolerance to chemotherapy and radiation in these patients. We report the pedigree of a consanguineous family with four affected children. Although clinical and molecular tests confirm CMMRD, genetic testing revealed heterogeneous mutations. The index case developed severe toxicity from therapy for glioblastoma and T-cell leukemia and died from an infection while in complete remission. His sister developed a malignant brain tumor while undergoing surveillance for a low grade brain lesion and is still undergoing follow-up. This family illustrates the difficulties and opportunities with challenging diagnosis, surveillance and choice of therapy for children with CMMRD and the need for increased awareness and more information about this rare but important syndrome.
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Neoplasias Encefálicas/terapia , Neoplasias Colorrectales/terapia , Pruebas Genéticas , Neoplasias/terapia , Síndromes Neoplásicos Hereditarios/terapia , Lesiones Precancerosas/terapia , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patología , Neoplasias Colorrectales/complicaciones , Neoplasias Colorrectales/genética , Neoplasias Colorrectales/patología , Consanguinidad , Femenino , Humanos , Masculino , Mutación , Neoplasias/complicaciones , Neoplasias/genética , Neoplasias/patología , Síndromes Neoplásicos Hereditarios/complicaciones , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/patología , Linaje , Lesiones Precancerosas/complicaciones , Lesiones Precancerosas/genética , Lesiones Precancerosas/patologíaRESUMEN
We report a case of a bodybuilder who took a regimen of anabolic steroids containing stanozolol and testosterone propionate for 8 weeks which led to the development of jaundice and severe pruritus with serum total bilirubin reaching 41.22 mg/dL. Despite supportive care with fluid and albumin therapy, serum creatinine was progressively increasing. He underwent 6 successful sessions of plasma exchange (PE) with marked improvement at the end of the sessions. Three months after discharge, the patient's creatinine and total bilirubin levels were 1.08 mg/dL and 1.2 mg/dL, respectively.
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Background. Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT) is a well-characterized entity that may share clinical and morphological findings with other low-grade non-Hodgkin's lymphomas. Dissemination of MALT-type lymphoma to bone marrow and peripheral blood simultaneously with the presence of T-large granular cell leukemia (T-LGL) has rarely been reported. Case Presentation. This is the case of a 42-year-old male who presented with a gastric MALT-type lymphoma, disseminated to the bone marrow and the peripheral blood with high serum IgM levels and t(11;18)(q21;q21). The morphological, immunophenotypical and, immunohistochemical studies of the successive bone marrow and peripheral blood samples had revealed the coexistence of two distinct lymphoma cell populations: a B-cell, marginal zone type population expressing CD19, CD20, CD22, CD79b, IgM, and kappa light chain, and a T-large granular cell population, developed after treatment with rituximab expressing CD3, CD8, CD5, CD7, and CD45. Conclusion. Based on the analysis of this unusual case we performed an extensive review of the literature to elucidate the relationship between T-LGL and B-cell lymphomas and to emphasize the importance of paraprotein analysis at diagnosis of gastric MALT lymphoma.
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BACKGROUND: Acute myeloid leukemia (AML) is a disease with marked heterogeneity. Despite major improvement in outcome, it remains a life-threatening malignancy. Demographic and clinical data on pediatric AML is lacking among the Lebanese population. PURPOSE: We aimed to identify clinical, molecular and outcome data in children with AML in Lebanon. METHODS: A retrospective chart review of children with AML diagnosed in three Lebanese hospitals during the past 8 years was conducted. RESULTS: From May 2002 through March 2010, we identified 24 children with AML in Saint George Hospital University Medical Center, University Medical Center Rizk Hospital, and Abou-Jaoude Hospital. Males and females were equally represented; median age at diagnosis was 9 years (range 1-24) and median WBC at diagnosis was 31 × 10(9)/L (range: 2.1-376 × 10(9)/L). Twenty five percent of patients (6 out of 24) had acute promyelocytic leukemia (APL). Karyotype was normal in 33% of patients; t(8;21), inv (16), t(8;9), t(7;11), t(9;11), complex chromosomal abnormality, monosomy 7 and trisomy 8 were the most common cytogenetic abnormalities encountered. Patients were treated on different European and North American protocols. Twelve patients (50%) achieved morphologic CR after cycle 1, 6 of them (50%) had bone marrow relapse within 11 months from diagnosis. Nine patients underwent allogeneic stem cell transplant, and 3 of them are alive at 5 years post-transplant. Early death rate was 16.6% of patients, mainly those with APL and a presenting WBC > 10 × 10(9)/L. Fifty per cent of APL patients had an early death due to DIC despite starting ATRA therapy. Overall, median survival for AML patients who died from disease progression was 25.8 months (range: 1-60 months). Overall disease-free survival was 30.4%. Patients < 10 years of age had a 50% survival rate compared to 0% in patients > 10 years. CONCLUSIONS: Our report highlights the needs in Lebanon for better supportive care of children with APL, including faster ATRA administration and, aggressive transfusions, easy access to stem cell transplant for high-risk AML patients and the need for a national homogenous treatment strategy for children with AML.
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Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic disorders characterized by peripheral blood cytopenias, blood cells dysplasia, and increased risk for progression to acute leukemia.Physicians should be vigilant in diagnosing MDS and should be aware of the contemporary therapies that are always in progress. Most of the data on MDS epidemiology and management comes from developed countries. The incidence and features of MDS in the Arab countries, among them Lebanon, are not known. We undertook a nationwide epidemiological registry study of all newly diagnosed MDS cases through 2010-2011. Patients were referred by 21 hematologists/oncologists practicing in 17 hospitals and medical centers distributed across the entire country. 58 patients (29 males and 29 females) with confirmed MDS were included. The calculated incidence rate of MDS was 0.71 per 100,000 people. The median age at diagnosis was 73 years (range 16-86). The most common complaints on presentation were fatigue (70.7%), weakness (60.3%) and pallor (43.1%). Most patients were diagnosed as refractory anemia with excess blasts (RAEB; 36.2%) and refractory cytopenia with multilineage dysplasia (RCMD; 32.8%). This paper constitutes the first epidemiological report on the incidence and specific subtypes of MDS in Lebanon.
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BACKGROUND: There is an increasing concern about methicillin-resistant Staphylococcus aureus (MRSA) infections in the community. This study aimed to evaluate the rate of S aureus nasopharyngeal colonization in outpatients as the primary endpoint, and also to study the impact of several possible risk factors, including recent hospitalization, recent surgical procedures, and antibiotic intake. METHODS: A total of 1,526 consecutive outpatients underwent surveillance cultures after completing a questionnaire. Isolated S aureus strains were tested for antibiotic susceptibility. The Pearson χ(2) test was used for statistical analysis. The differences were considered to be statistically significant at a P value <.05. RESULTS: Out of the 1,526 outpatients tested, 133 (8.7%) carried S aureus in the nose and/or throat. Only 2 of those cases were MRSA, and both were isolated from the nose. One hundred thirty-one patients had methicillin-sensitive S aureus, 13 with simultaneous carriage in the nose and throat. Among the risk factors, a relative working in health care, presence of an intravascular device, recent dental procedure, and health club use were significantly associated with an increased risk of S aureus colonization, with P values of .00, .02, .04, and .00, respectively, calculated by the χ(2) test. CONCLUSIONS: The prevalence of MRSA is still low in our study population within the Lebanese community. The only significant risk factors playing a role in increasing the carriage of S aureus were related to health care exposure.
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Portador Sano/epidemiología , Resistencia a la Meticilina , Mucosa Nasal/microbiología , Nasofaringe/microbiología , Pacientes Ambulatorios , Infecciones Estafilocócicas/epidemiología , Staphylococcus aureus/aislamiento & purificación , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Antibacterianos/farmacología , Portador Sano/microbiología , Niño , Preescolar , Femenino , Humanos , Lactante , Líbano/epidemiología , Masculino , Pruebas de Sensibilidad Microbiana , Persona de Mediana Edad , Prevalencia , Factores de Riesgo , Infecciones Estafilocócicas/microbiología , Staphylococcus aureus/efectos de los fármacos , Encuestas y Cuestionarios , Adulto JovenRESUMEN
RESUMO O objetivo deste estudo foi comparar a satisfação e motivação para a prática de exercício físico, flexibilidade e dor muscular tardia (DMT) em participantes saudáveis após exercícios de duas modalidades do método Pilates. Para isso, cinquenta participantes saudáveis realizaram uma sessão de exercícios do Pilates moderno e outra do Pilates instável. Foram avaliados os desfechos satisfação e motivação após as sessões, flexibilidade posterior do tronco e membros inferiores (banco de Wells) antes e após cada sessão, e DMT 24, 48 e 72 horas após cada sessão (Escala Numérica de Dor). Os resultados mostraram que não houve diferença estatisticamente significante entre as duas modalidades do Pilates para satisfação e motivação, flexibilidade e DMT 72 horas após a sessão (p>0,05). Para a DMT foi observada diferença estatisticamente significante entre as duas modalidades 24 horas (diferença entre as médias: -0,7; IC a 95%: -1,5 a 0,0) e 48 horas (diferença entre as médias: -0,8; IC a 95%: -1,4 a -0,2) após a sessão, com maior dor no Pilates instável. Como conclusão, as duas modalidades do Pilates apresentaram o mesmo nível de satisfação e motivação e ganho similar de flexibilidade. No entanto, o Pilates instável causou mais DMT após 24 e 48 horas, mas essa diferença não foi clinicamente relevante.
RESUMEN El objetivo de este estudio ha sido comparar la satisfacción y motivación para la práctica de ejercicio físico, flexibilidad y dolor muscular tardío (DMT) en participantes sanos después de ejercicios de dos modalidades del método Pilates. Para ello, cincuenta participantes sanos realizaron una sesión de ejercicios del Pilates moderno y otra del Pilates inestable. Se evaluaron los resultados de satisfacción y motivación después de las sesiones, flexibilidad posterior del tronco y miembros inferiores (banco de Wells) antes y después de cada sesión, y DMT 24, 48 y 72 horas después de cada sesión (Escala Numérica de Dolor). Los resultados mostraron que no hubo diferencia estadísticamente significativa entre las dos modalidades del Pilates para satisfacción y motivación, flexibilidad y DMT 72 horas después de la sesión (p>0.05). Para la DMT se observó diferencia estadísticamente significativa entre las dos modalidades 24 horas (diferencia entre las medias: -0.7, IC a 95%: -1.5 a 0.0) y 48 horas (diferencia entre las medias: -0.8, IC a 95%: -1.4 a -0.2) después de la sesión, con mayor dolor en el Pilates inestable. Como conclusión, las dos modalidades del Pilates presentaron el mismo nivel de satisfacción y motivación y benificio similar de flexibilidad. Sin embargo, el Pilates inestable causó más DMT después de 24 y 48 horas, pero esa diferencia no ha sido clínicamente relevante.
ABSTRACT The aim of our study was to compare the satisfaction and motivation for the practice of exercise, flexibility and delayed onset muscle soreness (DOMS) in healthy participants after exercises in two types of the Pilates method. For this, 50 healthy participants performed a session of exercises of modern Pilates and other of unstable Pilates. We evaluated the outcomes for satisfaction and motivation after sessions, posterior flexibility of the torso and lower extremities (sit-and-reach box) before and after each session, and DOMS 24, 48 and 72 hours after each session (Numeric Pain Rating Scale). Results showed no statistically significant difference between both types of Pilates for satisfaction and motivation, flexibility and DOMS 72 hours after the session (p>0.05). Regarding the DOMS we observed statistically significant difference between the two types 24 hours (difference between the means: -0.7; 95%CI: -1.5 to 0.0) and 48 hours (difference between means: -0.8; 95%CI: -1.4 to -0.2) after the session, with greater pain in unstable Pilates. As a conclusion, both categories of Pilates showed the same level of satisfaction and motivation and similar flexibility gain. However, unstable Pilates caused more DOMS after 24 and 48 hours, but this difference was not clinically relevant.