Primary and secondary retinal capillary haemangioma in Mexico.

A series is presented of sixteen cases of retinal capillary haemangioma (RCH) from consecutive patients at an ophthalmology teaching hospital in Mexico City. There were seven primary haemangioblastomas, and nine due to von Hippel-Lindau disease (VHL). All cases associated with VHL already had systemic manifestations, such as, cerebellar, medullary and renal tumours. Treatment of capillary haemangiomas must be individualised, based on several factors, including the number of lesions, exudation, or presence of retinal detachment. A multidisciplinary approach is essential.

Diabetes mellitus y covid-19: epidemiología, fisiopatología, manejo ambulatorio e intrahospitalario: revisión / Diabetes mellitus and covid-19: epidemiology, pathophysiology, outpatient and inpatient management: review

La diabetes mellitus ha sido asociado a una mayor probabilidad de enfermedad más grave por Covid-19. Los estudios epidemiológicos evidencian que los pacientes diabéticos tienen un riesgo mayor de un cuadro grave que requiera UCI, ventilación mecánica y probabilidad de morir. Un buen control metabólico parece fundamental para disminuir este riesgo. En el caso del manejo ambulatorio es importante asegurar la continuidad de los tratamientos crónicos, medir los niveles de glicemia capilar y minimizar la posibilidad de infección. En caso de infección por SARS-Cov2 el paciente diabético deberá hacer los ajustes necesarios en su tratamiento tanto para lograr un control glicémico adecuado como para disminuir los riesgos de algunos fármacos antidiabéticos. El uso de telemedicina constituye una excelente herramienta para facilitar el logro de los objetivos terapéuticos. En caso de requerir hospitalización, se ha evidenciado que los pacientes diabéticos tienen altos requerimientos de insulina y rápida tendencia a producir cetosis. Considerando la situación actual de pandemia las metas intrahospitalarias pueden ser más laxas y seguras, en especial en pacientes no críticos. En caso de pacientes críticos idealmente se debe mantener las metas glicémicas entre 140-180 mg/dL.

Diabetes mellitus has been associated with a higher probability of severe disease due to Covid-19. Epidemiological studies show that diabetic patients have an increased risk of a serious condition requiring ICU, mechanical ventilation and of course the probability of dying. Good metabolic control seems essential to reduce this risk. In the case of outpatient management, it is very important to ensure the continuity of chronic treatments, measure capillary blood glucose levels and minimize the possibility of infection. In case of SARS-Cov2 infection, the diabetic patient should make the necessary adjustments in their treatment, both to achieve adequate glycemic control and to reduce the risks of some antidiabetic drugs. Telemedicine is an excellent tool to facilitate the achievement to therapeutic goals. In case of requiring hospitalization, it has been shown that diabetic patients have high insulin requirements and rapid tendency to produce ketosis. Considering the current situation of a pandemic, intrahospital goals may be laxer and safer, especially in non-critically ill patients. In the case of critically ill patients, the glycemic goals should ideally be maintained between 140-180 mg/dL.

Síndrome de Sweet asociado a infección por el Virus de la Inmunodeficiencia Humana / Sweet's syndrome associated to human immunodeficiency virus infection

El síndrome de Sweet es una dermatosis neutrofílica aguda y febril que puede ser desencadenada por diferentes noxas. El diagnóstico es clínico a partir de una dermatosis aguda, con fiebre, leucocitosis y lesiones cutáneas localizadas en cara, cuello y extremidades. La histopatología muestra un denso infiltrado inflamatorio de la dermis a predominio neutrofílico, sin signos de vasculitis. Se presenta un paciente con síndrome de Sweet asociado a infección por el virus de la inmunodeficiencia humana

Sweet's syndrome associated with human immunodeficiency virus infection Sweet's syndrome is a neutrophilic and acute febrile dermatosis that can be triggered by different noxas. Diagnosis should be suspected in a patient with fever, leukocytosis and cutaneous lesions located on the face, the neck and the extremities. Cutaneous biopsy confirms the diagnosis of Sweet syndrome, with typical features of a neutrophilic dermatosis in the absence of vasculitis. Here we present a case of Sweet syndrome associated with human immunodeficiency virus infection

Divergent Axial Carpal Dislocation and Its Pathomechanics.

Background Axial carpal dislocations and fracture dislocations are 1.4 to 2.08% of all the fractures and dislocations of the wrist. These injuries are caused by high-energy blast or compression mechanisms. Only 11 cases of axial-radial-ulnar (ARU) fracture dislocations have been described in the literature. Case Description We describe a case with a traumatic transtrapezoid, peritrapezium, transhamate, peripisiform ARU in a patient with acute compartment syndrome, traumatic transverse flexor retinaculum (TFR) rupture, and radial nerve palsy. Literature Review The ARU fractures are injuries where the carpus is torn into three columns. ARU injuries have a high incidence of neurovascular, soft-tissue cover, and muscular-associated injuries. Depending on the injuries mentioned earlier, a bad functional prognosis can be expected. Nearly without exception, in ARU cases, a traumatic TFR rupture takes place. Garcia-Elias mentioned that the injury pattern is given by the speed, magnitude, and energy entry point. Clinical Relevance We describe a case of an ARU injury which has not been previously described. In an analysis of the 12 ARU cases previously reported, we observed that when two or more applied forces converge, an ARU injury pattern can occur. That suggests that in ARU injuries, one side of the injury occurs before the other. Due to the extensive carpal damage, in patients with ARU, a restricted range of motion is more likely to happen than residual instability. Thus, in all these cases, an early mobilization and intensive rehabilitation is highly necessary.

Cinética de muerte de linfocitos en diabetes mellitus tipo 1 y su posible asociación con miR-146a y miR-155 / Kinetics of cell death in type 1 diabetes mellitus and their possible association with miR-146a and miR-155

Aim: Analyze mi-146a and miR-155 expression and its correlation with the apoptosis of lymphocytes T in T1D and control patient. Patients and Methodology: 17 T1D patients (5 children between 8-14 yr and 12 adults between 19-29 yr). Activated and not activated peripheral mononuclear cells were studied were studied. Cellular activation with anti-CD3 and primary culture with interleukyne-2 by 5 days. Apoptosis assays through flow cytometry. miRNA through Taqman probes. Statistical analysis through Kruskal-Wallis and post-hoc Dunn's test. Results: Composition of virgin and memory T CD4 cells showed significant differences for stimulus response in control group (p = 0,0004). Increased memory cells count in control group activated by 7 days than basal (p = 0,0047). For early apoptosis differences were observed in days 3 and 7 with and without activation (p = 0,001). AICD apoptosis showed increases in control group after re-stimulation through TCR (p= 0,03). miR-146a expression was lower in recent-onset T1D children vs recent-onset DM1 adults (p = 0,0167). Conclusion: This study shows a differential miR-146a expression in T1D children with respect to T1D adult patients, diminished AICD mechanism in T1D and altered CD4+CD45RA-CD45R0+ memory cells generation in T1D adult patients.

Tabaquismo y Diabetes / Smoking and Diabetes

Resumen El tabaco ejerce daño en los pacientes con diabetes mellitus acelerando las complicaciones crónicas, incremento en el riesgo de mortalidad global y cardiovascular. Dejar de fumar produce una reducción del riesgo. Además, el tabaquismo tanto activo como pasivo incrementa la incidencia de diabetes tipo 2. La exposición al tabaco durante el embarazo también puede predisponer al desarrollo de diabetes de las hijas y diabetes gestacional en las madres. Un estudio en diabetes mellitus 1 comparó una cohorte de EE. UU. con una europea, demostró que los fumadores tienen niveles de HbA1c significativamente mayores y un perfil lipídico con mayor nivel de triglicéridos y colesterol LDL. Por todas estas razones es urgente realizar consejería breve o ABC-D, según las Primeras Guías de Práctica Clínica de Tratamiento del Tabaquismo, Chile, 2017 a todo paciente diabético ya sea en atención ambulatoria como hospitalaria.

Tobacco exerts damage in patients with diabetes mellitus by accelerating chronic complications, increasing the risk of global and cardiovascular mortality. Quitting smoking produces risk reduction. In addition, both active and passive smoking increases the incidence of type 2 diabetes. Exposure to tobacco during pregnancy can also predispose to the development of diabetes of daughters and gestational diabetes in mothers. A study in diabetes mellitus 1 compared a US cohort with a European cohort, showed that smokers have significantly higher levels of HbAlc and a lipid profile with a higher level of triglycerides and LDL cholesterol. For all these reasons it is urgent to brief counsel or provide ABC-D, according to the First Clinical Practice Guidelines of Tobacco Treatment, Chile, 2017 for all diabetic patients, whether in outpatient or hospital care.

RUNX1 amplification in AML with myelodysplasia-related changes and ring 21 chromosomes.

Ring 21 is an unstable structural abnormality of chromosome 21 that can lead to RUNX1 gene amplification. We present a unique case with a carrier patient of a constitutional ring chromosome 21 (partial monosomy and trisomy 21) with dysmorphic features and congenital malformations phenotype, who developed acute myeloid leukaemia with myelodysplasia-related changes and two ring 21 chromosomes with RUNX1 amplification. The patient's constitutional ring 21 chromosome showed alterations in tumour suppressor genes, and oncogenes, but not in RUNX1. RUNX1 gene expression at acute myeloid leukaemia diagnosis, showed no upregulation, so other genes may also be the genetic amplification targets in this patient. Copyright © 2016 John Wiley & Sons, Ltd.

Methionine synthase reductase deficiency (CblE): A report of two patients and a novel mutation.

IMPORTANCE: Functional methionine synthase reductase deficiency, also known as cobalamin E disorder, is a rare autosomal recessive inherited disease that results in an impaired remethylation of homocysteine to methionine. It presents with macrocytic anemia, hyperhomocysteinemia, and hypomethioninemia, and may also be accompanied with neurological impairment. CLINICAL PRESENTATION: We describe two new cases of unrelated girls with megaloblastic anemia misclassified at first as congenital dyserythropoietic anemia with development of neurologic dysfunction in one of them. INTERVENTION: The posterior finding of biochemical features (hyperhomocysteinemia and hypomethioninemia) focused the diagnosis on the inborn errors of intracellular vitamin B12. Subsequent molecular analysis of the methionine synthase reductase (MTRR) gene revealed compound heterozygosity for a transition c.1361C > T (p.Ser454Leu) and another, not yet described in literature, c.1677-1G > A (p.Glu560fs) in one patient, and a single homozygosis mutation, c.1361C > T (p.Ser545Leu) in the other one. These mutations confirmed the diagnosis of cobalamin E deficiency. CONCLUSION: Treatment with hydroxocobalamin in combination with betaine appears to be useful for hematological improvement and prevention of brain disabilities in CblE-affected patients. Our study widens the clinical, molecular, metabolic, and cytological knowledge of deficiency MTRR enzyme.

Fractura luxación axial del carpo. Reporte de tres casos y revisión de la literatura / Axial-fracture dislocation of the carpal bone, report of three cases and literature review

Reportamos tres casos de fractura de luxación axial del carpo tratados en nuestro servicio. Los tres, hombres entre la tercera y cuarta décadas de la vida, que sufrieron accidentes laborales por aplastamiento. En todos los casos se realizó reducción abierta y estabilización con clavillos, posteriormente fueron enviados a medicina física y rehabilitación. Se valoró la función de la muñeca a los diez meses con la escala de la Clínica Mayo para la muñeca (Mayo Wrist Score) y se tomaron estudios radiográficos para evaluar sus resultados postoperatorios. En este escrito se exponen tres ejemplos de pacientes que sufrieron estas lesiones con desenlaces "bueno", "satisfactorio" y "pobre".

We report three cases of axial-fracture dislocation of the carpal bone treated in our department. The three men were between thirty and forty years old who had a work related crushing fracture. We performed an open reduction and stabilization with pins in all cases; patients were then referred to physical medicine and rehabilitation. We assessed the wrist function at ten months using the Mayo Wrist Score and with X-rays to evaluate postoperative results. In this summary we present three examples of patients who suffered these injuries with "good", "satisfactory" and "poor" outcomes.

Síndrome de Cushing por ACTH ectópica: revisión a propósito de dos casos clínicos / Cushing syndrome caused by ectopic ACTH secretion: report of two cases

Twelve percent of Cushing syndromes (CS) are caused by ectopic ACTH secretion. We report two cases of the condition. A 57 years old woman with an ectopic CS caused by a bronchial carcinoid tumor. After the tumor excision, the patient had a favorable evolution. A 63 years old woman consulting for cough, dyspnea and weight loss causes by a small cell lung cancer. The patient presented hyperglycemia, hypokalemia and metabolic alcalosis. The laboratory showed a severe hypercortisolism with elevated ACTH levels. The metabolic condition did not subside after the first course of chemotherapy and the patient died due to an infectious complication...

Is on-demand treatment effective in patients with severe haemophilia?

On-demand therapy enables stopping haemorrhages rapidly, reducing joint pain and restoring joint mobility, but does not prevent the beginning and subsequent development of haemophilic arthropathy. The main objective of this study was to identify the clinical and orthopaedic status of severe haemophilic patients with bleeding phenotype receiving on-demand treatment in Spain. We conducted an epidemiological, observational, retrospective study, recruiting 167 patients from 36 centres (92% of them with haemophilia A), median age at enrolment of 35 years. Forty per cent of the patients received a combination of on-demand and short-term prophylaxis regimen; the rest was under on-demand treatment. One hundred and forty-five patients (87%) reported at least one bleeding episode and 22 (13%) of the biologically severe patients had no bleeding phenotype. Seventy-one per cent of the studied population presented established haemophilic arthropathy, reaching 80% if we exclude patients without bleeding phenotype. Forty-three per cent of these patients had one or two joints affected, 28% of them had three or four affected joints, 20% reported five or six affected joints and 9% more than six injured joints. An increase in established haemophilic arthropathy with age was observed. Forty-six patients underwent orthopaedic surgery at least once. These data show that on-demand therapy is not effective in preventing the development of haemophilic arthropathy in severe haemophilic population with bleeding phenotype. Therefore, we suggest that the optimal treatment in these patients should be based on prophylaxis. We recommend analysing the reasons for ending prophylaxis, in case its reinstatement should be necessary.

Caso clí­nico: reactivación de psoriasis posterior a adrenalectomía por sí­ndrome de Cushing / Case report: psoriasis relapse following adrenalectomy for cushing syndrome

The relapse of autoimmune diseases following resolution of Cushing syndrome (CS) has been established with frequency, especially for thyroid disease. We present the case of a 39-year-old woman with a history of psoriasis vulgaris, with no other comorbidities. She presented a one-year of weight gain, high blood pressure, hypermenorrhea, pre-diabetes and dyslipidemia. During this period of time, the complete remission of psoriatic lesions was confirmed. The laboratory analysis demonstrated elevated free urinary cortisol in two opportunities, and a confirmatory low-dose dexamethasone test. Low ACTH levels were established (12,3pg/ml), and the abdominal images where compatible with a right adrenal adenoma of 3,0 x 2,3 cm, sothe patient underwent a laparoscopic right adrenalectomy with no complications. Her blood pressure, glucose and cholesterol levels improved following surgery. One month after surgery the patient developed new, generalized psoriatic plaques. The excess of glucocorticoids produced by the adrenal tumor could have controlled the immunopathogeny of psoriasis. By removing the tumor, with the consequent reduction of cortisol levels, a more severe relapse of her cutaneous disease occurred.

Osteomalacia hipofosfatémica secundaria a sarcoma de muslo: caso clínico / Hypophosphatemic osteomalacia secondary to a sarcoma: report of one case

Tumor induced osteomalacia is uncommon and is characterized by an isolated and not PTH dependent reduction in tubular phosphate reabsorption. This alteration is produced by phosphaturic factors, such as fibroblast growth factor-23 (FGF-23) that are secreted by tumors. We report a 41 years old female presenting with joint pain and progressive loss of muscle strength in the lower limbs. Initial laboratory assessment showed hypophosphatemia, elevated alkaline phosphatases, normal intact parathormone levels, low levels of 25 hydroxy vitamin D and an elevated 24 h phosphaturia. Bone mineral density showed spine and femoral neck osteopenia. A positron emission tomography (PET) revealed a right thigh tumor with lung metastases. Its biopsy disclosed a fibrosarcoma. FGF-23 levels, measured by ELISA were markedly elevated. The patient was discharged with palliative measures.

Disseminated paracoccidioidomycosis with a single brainstem lesion. A case report and literature review.

Paracoccidioidomycosis is a systemic disease endemic to subtropical areas in Central and South America caused by a dimorphic fungus known as Paracoccidioides brasiliensis. Central nervous system involvement is a severe complication of the systemic disease, and has been found in approximately 13% of patients. This paper describes the case of a patient whose computed tomography scan and magnetic resonance imaging showed a single tumor-like lesion in the brainstem. Histopathological and mycological examinations of stereotactic biopsy smears showed the characteristic yeast cells that confirmed the diagnosis of neuroparacoccidioidomycosis.

Compromiso endocrinológico en el síndrome de POEMS: revisión a propósito de un caso / Secondary amenorrhea and hypothyroidism in a women with POEMS syndrome: report of one case

POEMS is an acronym for a syndrome characterized by osteosclerotic myeloma: polyneuropathy, organomegaly, endocrinopathy, monoclonal protein and skin changes. Hypothyroidism, hypogonadism, diabetes mellitus and adrenal failure can be associated to POEMS syndrome. We report a 39 years old women with monoclonal gammopathy and paraparesis caused by a polyneuropathy, in whom a POEMS syndrome was diagnosed and treated with dexamethasone. The patient had a secondary amenorrhea and a clinical hypothyroidism with negative antithyroidal antibodies. Substitutionwith levothyroxine was started.

Compromiso genital en un paciente con lepra lepromatosa / Involvement of genitals in e patient with lepromatous leprosy

El compromiso de los órganos genitales masculinos en la lepra, se observa con mayor frecuencia en el transcurso de los cuadros reaccionales. Sin embargo, fuera de estos episodios agudos, la piel y mucosa de los genitales externos pueden estar comprometidas por lesiones específicas. Se comunica el caso de un paciente hanseniano que recidivó, lepromatoso con lesiones infiltradas y nodulares en prepucio y lóbulo auricular, como únicas manifestaciones de la enfermedad.

The involvement of male genitals in leprosy appears more frecuently in the immunologic reactions. Although, the genital skin and mucous can be affected, by specific lesions too. We report a case of relapsed lepromatous leprosy with infiltrated lesions and nodules in prepuce and earlobe as the only disease manifestation.

[Antineutrophil cytoplasmic antibody (ANCA)-positive vasculitis associated to the use of propylthiouracil. Report of four cases]. / Vasculitis ANCA-positivo en pacientes hipertiroideos usuarios de propiltiouracilo: Report of four cases.

Antineutrophil cytoplasmic antibody (ANCA)-positive vasculitis is an uncommon complication of the use of propylthiouracil. When it occurs, it affects multiple organs as any systemic vasculitis. We report three females and one male, aged 30, 40, 43 and 41 years respectively, that after a lapse of 12 to 28 months of propylthiouracil use, presented clinical signs of vasculitis. All had high titers of ANCA against myeloperoxidase. In three patients, a skin biopsy confirmed the diagnosis. The condition subsided when propylthiouracil was discontinued, but one female patient required the use of prednisone.

Vasculitis ANCA-positivo en pacientes hipertiroideos usuarios de propiltiouracilo: Report of four cases / Antineutrophil cytoplasmic antibody (ANCA)-positive vasculitis associated to the use of propylthiouracil

Antineutrophil cytoplasmic antibody (ANCA)-positive vasculitis is an uncommon complication of the use of propylthiouracil. When it occurs, it affects multiple organs as any systemic vasculitis. We report three females and one male, aged 30, 40, 43 and 41 years respectively, that after a lapse of 12 to 28 months of propylthiouracil use, presented clinical signs of vasculitis. All had high titers of ANCA against myeloperoxidase. In three patients, a skin biopsy confirmed the diagnosis. The condition subsided when propylthiouracil was discontinued, but one female patient required the use of prednisone.

Efectos de la exposición al humo de tabaco ambiental en no fumadores / Effects in passive smokers of environmental tobacco smoke exposure

National and international environmental tobacco smoke studies were reviewed regarding its effects on passive smokers' health. Environmental tobacco smoke is composed by more than 4,000 known substances, which are different if they are in the mainstream or sidestream. Studies with biomarkers like cotinine have concluded that exposed nonsmokers have an increased cardiovascular morbi-mortality. Passive smokers also have an increased risk of lung, nasal sinus and breast cancer. Children have more acute and chronic respiratory symptoms, low respiratory infections, otitis and sudden infant death syndrome. Environmental tobacco smoke induces asthma and causes exacerbations in both children and adults. In reproductive health, it decreases the age of menopause and produces menstrual disorders. Newborn infants of passive smoking mothers have a higher probability of low birth weight and to be small for gestational age. This international scientific evidence should lead countries to take measures in order to protect nonsmokers' health.

Se realizó una revisión de los estudios nacionales e internacionales sobre los efectos del humo de tabaco ambiental en la salud de los fumadores pasivos. El humo de tabaco ambiental está conformado por más de 4.000 sustancias químicas, las que difieren cuali y cuantitativamente al estar presentes en la corriente principal o en la lateral. Los no fumadores expuestos presentan un aumento de morbi-mortalidad por enfermedad cardiovascular, incluso con estudios con biomarcadores como cotinina. Además los fumadores pasivos tienen un riesgo aumentado de presentar cáncer de pulmón, de senos paranasales y mama. En niños existe un mayor número de síntomas respiratorios agudos y crónicos, infecciones respiratorias bajas, otitis media y síndrome de muerte súbita infantil. El humo de tabaco ambiental favorece la inducción y exacerbación de asma bronquial en niños y adultos. En la salud reproductiva, disminuye la edad de aparición de la menopausia y produce desórdenes menstruales. Los recién nacidos hijos de madres fumadoras pasivas tienen mayor probabilidad de nacer con bajo peso o de ser pequeños para la edad gestacional. La evidencia científica internacional debe contribuir a que los países tomen medidas para proteger la salud de los no fumadores.