Impacts of the COVID-19 Pandemic on the Mental Health and Motor Deficits in Cuban Patients with Cerebellar Ataxias.

Although there are no convincing evidences of detrimental effect of SARS-CoV2 infection on the cerebellum, the COVID-19 pandemic could impact the life quality of patients with cerebellar ataxias, but few studies have addressed this concern. To assess the motor and mental health changes caused by the COVID-19 pandemics in Cuban patients with cerebellar ataxias, three hundred four patients with cerebellar ataxias and 167 healthy controls were interviewed for risks of exposure to COVID-19, and the self-perception of the pandemics' impact on the disease progression and on the mental health. All subjects underwent the Hospital Anxiety and Depression Scale. The patients reported low exposition to SARS-CoV2 infection, but one case was confirmed with a mild COVID-19. Overall, depressive and anxiety symptoms were significantly and marginally increased in patients, respectively, with higher scores in cases with severe and moderate ataxia. Positive patient's impression of psychopathological changes was associated to increased age, age at onset, and anxiety. Sixty-seven patients had a positive self-perception of ataxia progression, which was mainly influenced by higher anxiety scores but not by the adherence to at-home exercise programs. However, the practice of physical exercise was related with lower depression and anxiety scores, but this therapeutical effect was not significantly influenced by the disease stage. We demonstrated the negative effect of the COVID-19 pandemic on the mental and motor deficits in Cuban patients with cerebellar ataxias and the positive effect of the at-home physical exercise programs on their mental well-being. These findings give rationales to develop tele-medicine approaches to minimize these health impacts and to study the long-term effects of such sequelae and accordingly define their treatments.

Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients.

The prevalence estimations of hereditary ataxias are biased since most epidemiological studies are confined to isolated geographical regions and few nationwide studies are available. The study aims to assess the prevalence, distribution, and neurological features of the Cuban population with hereditary ataxias. A nationwide epidemiological study of hereditary ataxias was conducted in Cuba between March 2017 and June 2018. Patients were scheduled at the Cuban ataxia research center, various hospitals, or at their homes. Demographic and clinical variables were obtained through standardized questionnaires and validated clinical tools. Overall, 1001 patients were diagnosed with hereditary ataxias for a nationwide prevalence of 8.91 cases/100.000 inhabitants. Spinocerebellar ataxia type 2 (SCA2) was the commonest subtype, with highest prevalences at Holguín province (47.86/100.000), and a broad dissemination in the whole country. Most of neurological features were common between all SCA cohorts, but the frequencies of some of them varied between distinct subtypes. Within the SCA2 cohort, significant influences of long mutation size and higher disease duration over the muscle atrophy and oculomotor disorders were observed. Besides, higher disease durations were associated with resting tremor and dysphagia, whereas shorter disease durations were associated with hyperreflexia. The spreading of SCA2 to whole country and the documented raising of its prevalence set the rationales for higher-scope medical care and research strategies, supported in collaborative research networks. The wide epidemiological, clinical, and genetic characterization of this founder SCA2 population identifies this homogeneous cohort as an attractive source for the development of future clinical-genetic and therapeutic researches.

Alteraciones anatomopatológicas en la escleritis anterior nodular necrotizante / Pathological alterations in necrotizing nodular anterior scleritis

RESUMEN La presencia de la escleritis necrotizante es rara; necesita de un diagnóstico y de un tratamiento oportuno, ya que su curso es rápido, severo y destructivo de la integridad del globo ocular. Se presenta una paciente de 43 años de edad, quien requirió atención oftalmológica al presentar el ojo derecho rojo con intenso dolor. Se le encontraron 3 nódulos en la región antero-inferior escleral. Se le realizó punción-aspiración con aguja fina en los nódulos esclerales y se obtuvo un fragmento de uno de ellos para el corte histológico. En ambas muestras se observó infiltrado inflamatorio de linfocitos y neutrófilos con algunas células plasmáticas. Se le impuso tratamiento con prednisona oral (0,5 mg/kg/día), prednisolona colirio y azatioprina a dosis de 1,5 mg/kg/día. La evolución al mes fue satisfactoria con mejoría gradual de las lesiones. El tratamiento se mantuvo por 3 meses con chequeos hematológicos reiterados. Se disminuyeron posteriormente las dosis medicamentosas hasta su eliminación a los 6 meses. La curación de las lesiones fue total. No se encontró enfermedad sistémica en el chequeo clínico efectuado(AU)

ABSTRACT The presence of necrotizing scleritis is rare; it needs a diagnosis and an opportune treatment, since its course is fast, severe and destructive of the integrity of the eyeball. We present a 43-year-old patient who required ophthalmological attention when presenting the red right eye with intense pain. Three nodules were found in the antero-inferior scleral region. Fine needle aspiration was performed on the scleral nodules and a fragment of one of them was obtained for the histological section. In both samples, inflammatory infiltrate of lymphocytes and neutrophils with some plasma cells was observed. He was prescribed treatment with oral prednisone (0.5 mg /kg/day), prednisolone eye drops and azathioprine at a dose of 1.5 mg/kg/day. The evolution to the month was satisfactory with gradual improvement of the lesions. The treatment was maintained for 3 months with repeated blood tests. Drug doses were subsequently reduced until their elimination at 6 months. The healing of the injuries was total. No systemic disease was found during the clinical check-up(AU)

Medicina alternativa en Oftalmología / Alternative medicine in Ophthalmology

Introducción: A principios de la década de los años 90 del pasado siglo y con el desplome del campo socialista se vieron en Cuba afectadas sus relaciones económicas, lo que da lugar a una etapa denominada período especial, de adversas consecuencias en todas las esferas de la vida del pueblo cubano. No obstante, la asistencia médica a la población en el país se mantuvo, pese a las carencias y necesidades, en algunas circunstancias se acudió a la medicina alternativa.Desarrollo: El objetivo de esta exposición en forma de artículo de revisión, es dar a conocer para dominio de la comunidad médica, dos artículos olvidados en el tiempo, relacionados con el tema de la medicina alternativa en la especialidad de oftalmología, publicados durante aquellos años, los cuales hemos decidido presentar íntegramente con vistas al análisis detallado por el lector. En este trabajo, previa aprobación del Consejo Editorial de la revista electrónica Enlace del CIGET de Ciego de Ávila, se presentan los mismos, se respetan las versiones originales de estos escritos que fueron publicados respectivamente enero 1996 y en enero 1997 de dicha revista(AU)

A therapeutic investigation in six patients which had Keratoconjunctivitis sicca syndrome was carried out, one male and five females who are under the age 24 to 60. They were attended in the ophthalmology department of the Provincial Hospital of Moron city with moderates and severe symptomatology during the year of 1993. It was used autologous serum eye drops, stored in plastic tubes and frozen. The main aspects evaluated were: foreign body sensation, ocular pain, photophobia, redness, irritation and corneal filaments. After two months period treatment the symptoms disappeared in three patients, descending to low levels in two of them and one of them didnt get better. In the use of this treatment the score was very satisfactory with the alternative procedure in a moment it didn´t have the right medication(AU)

Informe clínico de dismorfias múltiples con agregación familiar / Clinical report on multiple dysmorphias with familial aggregation

Se comunican las características clínicas de una mujer de 68 años de edad y sus dos hijas (36 y 33 años) que presentaban un conjunto de anomalías de probable origen hereditario. Se les efectuaron interconsultas con varias especialidades: medicina interna, genética, cardiología, radiología, angiología, psiquiatría, dermatología, otorrinolaringología, máxilo-facial, oftalmología y neurología. Los hallazgos comunes a las tres pacientes consistieron en tortuosidad de los vasos retinianos, glaucoma crónico de ángulo abierto, braquidactilias y otros dismorfismos en dedos de manos y pies, hallux valgus, telangiectasias en mejillas y tórax superior, orejas en ®asa¼, hiperostosis frontal, tórax excavado e insuficiencia mitral. El glaucoma neovascular se presentó en un ojo de cada hija. Este complejo padecimiento clínico, con alteraciones en miembros, faciales, cardiovasculares, oculares y en piel con una posible herencia de tipo autosómico dominante por su presencia en dos generaciones sucesivas, no se corresponde con ningún síndrome de los considerados en este informe(AU)

Presentation of the clinical characteristics of a 68-year-old woman and her two daughters, aged 36 and 33, who had a number of abnormalities of probable hereditary origin. Interconsultations were conducted with several specialties: internal medicine, genetics, cardiology, radiology, angiology, psychiatry, dermatology, otorhinolaryngology, maxillofacial, ophthalmology and neurology. The findings common to the three patients were retinal arterial tortuosity, chronic open angle glaucoma, brachydactyly and other dysmorphic disorders of fingers and toes, hallux valgus, telangiectasia in cheeks and upper thorax, protruding ears, frontal hyperostosis, pectus excavatum and mitral insufficiency. Both daughters had neovascular glaucoma in one of their eyes. This complex clinical condition, with disorders involving limbs, face, the cardiovascular system, eyes and skin, and a potential autosomal dominant inheritance in view of its presence in two successive generations, does not correspond to any of the syndromes considered in this report(AU)

Informe clínico de dismorfias múltiples con agregación familiar / Clinical report on multiple dysmorphias with familial aggregation

Se comunican las características clínicas de una mujer de 68 años de edad y sus dos hijas (36 y 33 años) que presentaban un conjunto de anomalías de probable origen hereditario. Se les efectuaron interconsultas con varias especialidades: medicina interna, genética, cardiología, radiología, angiología, psiquiatría, dermatología, otorrinolaringología, máxilo-facial, oftalmología y neurología. Los hallazgos comunes a las tres pacientes consistieron en tortuosidad de los vasos retinianos, glaucoma crónico de ángulo abierto, braquidactilias y otros dismorfismos en dedos de manos y pies, hallux valgus, telangiectasias en mejillas y tórax superior, orejas en ®asa», hiperostosis frontal, tórax excavado e insuficiencia mitral. El glaucoma neovascular se presentó en un ojo de cada hija. Este complejo padecimiento clínico, con alteraciones en miembros, faciales, cardiovasculares, oculares y en piel con una posible herencia de tipo autosómico dominante por su presencia en dos generaciones sucesivas, no se corresponde con ningún síndrome de los considerados en este informe

Presentation of the clinical characteristics of a 68-year-old woman and her two daughters, aged 36 and 33, who had a number of abnormalities of probable hereditary origin. Interconsultations were conducted with several specialties: internal medicine, genetics, cardiology, radiology, angiology, psychiatry, dermatology, otorhinolaryngology, maxillofacial, ophthalmology and neurology. The findings common to the three patients were retinal arterial tortuosity, chronic open angle glaucoma, brachydactyly and other dysmorphic disorders of fingers and toes, hallux valgus, telangiectasia in cheeks and upper thorax, protruding ears, frontal hyperostosis, pectus excavatum and mitral insufficiency. Both daughters had neovascular glaucoma in one of their eyes. This complex clinical condition, with disorders involving limbs, face, the cardiovascular system, eyes and skin, and a potential autosomal dominant inheritance in view of its presence in two successive generations, does not correspond to any of the syndromes considered in this report

Catarata congénita juvenil: a propósito de una pareja de gemelas dicigóticas / Congenital cataract youthful: report of a pair dizygotic twins

Se efectúa una revisión en las bases de datos de Internet sobre algunos aspectos hereditarios y genéticos involucrados en la catarata congénita. Se encuentra que en ella existen un gran número de genes implicados como: CRYGD, CCV, PCC, LOC619404, CCA1, CATM, CCNP, PITX3, GCNT2, CCT, CCAT, CATC2, CCZS, CCFDN, CRYAA, BFSP2, CRYBB1, CRYBB2, Cgct, MAF, Cad, CCA2, HSF4, CRYBA1, CRYAB, CRYGC, FAM126A, EYA1, CRYBB3, PAX6, NHS, GJA8, GJA3, AIPL1, SIX6, MTHFR, GALT, Gja3, LCT, BCL2, DMBX1 y GALK1. A continuación se informa de una pareja de gemelas de 28 años de edad afectadas de catarata congénita juvenil en ambos ojos, diagnosticada durante su adolescencia con disminución lenta y progresiva de la visión en los últimos meses, por lo que se decidió la extracción extracapsular del cristalino vía límbica con implante de lente intraocular en saco capsular durante el año 2004. El transoperatorio y su evolución posterior fueron satisfactorios. La refracción realizada a las dos pacientes a los tres meses de operadas estuvo entre 1,0 y 0,8 con la mejor corrección óptica. En la actualidad se mantienen con similar agudeza visual(AU)

It was done a review in the Internet data base about several hereditary and genetic topics involved in the congenital cataract. It was found several genes implicated such as: CRYGD, CCV, PCC, LOC619404, CCA1, CATM, CCNP, PITX3, GCNT2, CCT, CCAT, CATC2, CCZS, CCFDN, CRYAA, BFSP2, CRYBB1, CRYBB2, Cgct, MAF, Cad, CCA2, HSF4, CRYBA1, CRYAB, CRYGC, FAM126A, EYA1, CRYBB3, PAX6, NHS, GJA8, GJA3, AIPL1, SIX6, MTHFR, GALT, Gja3, LCT, BCL2, DMBX1 and GALK1. It reports a pair of twins of 28 years of age, affected of juvenile congenital cataract in hers both eyes, diagnosed during adolescence with slow and progressive decrease of vision and It was decided the extracapsular extraction of the lens by limbic pathway with intraocular lens implant in capsular bag during 2004. The results were satisfactory during the transoperatory performance. The best corrected refraction done three months later was about 1.0 and 0.8. Actually the similar visual acuity have no variations(AU)

Catarata congénita juvenil: a propósito de una pareja de gemelas dicigóticas / Congenital cataract youthful: report of a pair dizygotic twins

Se efectúa una revisión en las bases de datos de Internet sobre algunos aspectos hereditarios y genéticos involucrados en la catarata congénita. Se encuentra que en ella existen un gran número de genes implicados como: CRYGD, CCV, PCC, LOC619404, CCA1, CATM, CCNP, PITX3, GCNT2, CCT, CCAT, CATC2, CCZS, CCFDN, CRYAA, BFSP2, CRYBB1, CRYBB2, Cgct, MAF, Cad, CCA2, HSF4, CRYBA1, CRYAB, CRYGC, FAM126A, EYA1, CRYBB3, PAX6, NHS, GJA8, GJA3, AIPL1, SIX6, MTHFR, GALT, Gja3, LCT, BCL2, DMBX1 y GALK1. A continuación se informa de una pareja de gemelas de 28 años de edad afectadas de catarata congénita juvenil en ambos ojos, diagnosticada durante su adolescencia con disminución lenta y progresiva de la visión en los últimos meses, por lo que se decidió la extracción extracapsular del cristalino vía límbica con implante de lente intraocular en saco capsular durante el año 2004. El transoperatorio y su evolución posterior fueron satisfactorios. La refracción realizada a las dos pacientes a los tres meses de operadas estuvo entre 1,0 y 0,8 con la mejor corrección óptica. En la actualidad se mantienen con similar agudeza visual

It was done a review in the Internet data base about several hereditary and genetic topics involved in the congenital cataract. It was found several genes implicated such as: CRYGD, CCV, PCC, LOC619404, CCA1, CATM, CCNP, PITX3, GCNT2, CCT, CCAT, CATC2, CCZS, CCFDN, CRYAA, BFSP2, CRYBB1, CRYBB2, Cgct, MAF, Cad, CCA2, HSF4, CRYBA1, CRYAB, CRYGC, FAM126A, EYA1, CRYBB3, PAX6, NHS, GJA8, GJA3, AIPL1, SIX6, MTHFR, GALT, Gja3, LCT, BCL2, DMBX1 and GALK1. It reports a pair of twins of 28 years of age, affected of juvenile congenital cataract in hers both eyes, diagnosed during adolescence with slow and progressive decrease of vision and It was decided the extracapsular extraction of the lens by limbic pathway with intraocular lens implant in capsular bag during 2004. The results were satisfactory during the transoperatory performance. The best corrected refraction done three months later was about 1.0 and 0.8. Actually the similar visual acuity have no variations

Síndrome de Sjõgren y adenocarcinoma de colon / Sjõgren's syndrome and colon adenocarcinoma

Se presenta un paciente afectado de una inusitada asociación de síndrome de Sjõgren y neoplasia de colon. Se realizó una pesquisa en varias bases de datos, pero solo encontramos un reporte anterior relativo al mismo complejo sindrómico. Se exponen los hallazgos oftalmológicos y los diferentes procederes clínicos que se realizaron encaminados al diagnóstico de la afección del paciente mediante el anßlisis de su historia clínica(AU)

Case of a patient presenting with uncommon association of Sjõgren syndrome and colon neoplasia. A search in some databases was performed, but only we found a prior report related to the same syndrome complex. Ophthalmologic findings are showed as well as the different clinical procedures performed aimed to diagnosis of patient affection by means of analysis of his medical record(AU)

Síndrome de Sjõgren y adenocarcinoma de colon / Sjõgren's syndrome and colon adenocarcinoma

Se presenta un paciente afectado de una inusitada asociación de síndrome de Sjõgren y neoplasia de colon. Se realizó una pesquisa en varias bases de datos, pero solo encontramos un reporte anterior relativo al mismo complejo sindrómico. Se exponen los hallazgos oftalmológicos y los diferentes procederes clínicos que se realizaron encaminados al diagnóstico de la afección del paciente mediante el anßlisis de su historia clínica.

Case of a patient presenting with uncommon association of Sjõgren syndrome and colon neoplasia. A search in some databases was performed, but only we found a prior report related to the same syndrome complex. Ophthalmologic findings are showed as well as the different clinical procedures performed aimed to diagnosis of patient affection by means of analysis of his medical record.

Iridotomías con Yag-láser en gemelos heterocigóticos / Yag laser iridotomy applied in heterozygotic twins

Se informa de dos gemelos heterocigóticos de 28 años de edad que al acudir a consulta de oftalmología se les constató un ángulo camerular estrecho, sin hipertensión ocular ni alteraciones de sus campos visuales. Se decidió la realización de iridotomías con láser como prevención de cierre angular intermitente o agudo. Después de realizado este proceder y hasta la actualiadad se ha mantenido un seguimiento sistematico al caso(AU)

This paper reported the case of two heterozygotic twins aged 28 years, who went to the Ophthalmological Service and were diagnosed with a close camerular angle, without suffering either ocular hypertension or visual field alterations. Nd: Yag laser iridotomies was indicated to prevent intermittent or acute angle closure. After this procedure up to the present, this case has been systematically followed-up(AU)

Iridotomías con Yag-láser en gemelos heterocigóticos / Yag laser iridotomy applied in heterozygotic twins

Se informa de dos gemelos heterocigóticos de 28 años de edad que al acudir a consulta de oftalmología se les constató un ángulo camerular estrecho, sin hipertensión ocular ni alteraciones de sus campos visuales. Se decidió la realización de iridotomías con láser como prevención de cierre angular intermitente o agudo. Después de realizado este proceder y hasta la actualiadad se ha mantenido un seguimiento sistematico al caso.

This paper reported the case of two heterozygotic twins aged 28 years, who went to the Ophthalmological Service and were diagnosed with a close camerular angle, without suffering either ocular hypertension or visual field alterations. Nd: Yag laser iridotomies was indicated to prevent intermittent or acute angle closure. After this procedure up to the present, this case has been systematically followed-up.

Queratoplastia de alto riesgo: a propósito de un caso / High risk keratoplasty: a case presentation

Se informa de un paciente con catarata patológica y gran descemetocele en su ojo izquierdo producto de secuela de úlcera grave de la córnea, que sufre perforación corneal y al cual se le realiza un doble proceder quirúrgico, queratoplastia perforante y extracción extracapsular del cristalino, como medida heroica para salvar la integridad del globo ocular y conservar su agudeza visual. El tratamiento específico posoperatorio fue con corticoides e hipotensores oculares tópicos y sistémicos además de antibióticos locales. A pesar de ser una queratoplastia con muy alto riesgo, la córnea donante se mantiene transparente sin signos de rechazo y una visión de cuenta dedos a 3 m , después de un mes de operado(AU)

This paper presents a patient suffering from pathological cataract and big descemetocele in his left eye due to a sequelae of serious ulcer of the cornea and corneal perforation. He underwent a double surgical procedure, that is, perforating keroplasty and extracapsular removal of the crystalline lens as a way of saving the integrity of the eyeball and preserving his visual acuity. The specific postoperative treatment was corticosteroids, topical and systemic occular hypotensive drugs plus local antibiotics. In spite of the high risk keratoplasty, donor cornea keeps its transparency without rejection signs and his vision allows him to count fingers at a 3m distance one month after surgery(AU)

Queratoplastia de alto riesgo: a propósito de un caso / High risk keratoplasty: a case presentation

Se informa de un paciente con catarata patológica y gran descemetocele en su ojo izquierdo producto de secuela de úlcera grave de la córnea, que sufre perforación corneal y al cual se le realiza un doble proceder quirúrgico, queratoplastia perforante y extracción extracapsular del cristalino, como medida heroica para salvar la integridad del globo ocular y conservar su agudeza visual. El tratamiento específico posoperatorio fue con corticoides e hipotensores oculares tópicos y sistémicos además de antibióticos locales. A pesar de ser una queratoplastia con muy alto riesgo, la córnea donante se mantiene transparente sin signos de rechazo y una visión de cuenta dedos a 3 m, después de un mes de operado.

This paper presents a patient suffering from pathological cataract and big descemetocele in his left eye due to a sequelae of serious ulcer of the cornea and corneal perforation. He underwent a double surgical procedure, that is, perforating keroplasty and extracapsular removal of the crystalline lens as a way of saving the integrity of the eyeball and preserving his visual acuity. The specific postoperative treatment was corticosteroids, topical and systemic occular hypotensive drugs plus local antibiotics. In spite of the high risk keratoplasty, donor cornea keeps its transparency without rejection signs and his vision allows him to count fingers at a 3m distance one month after surgery.