[Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo].

Background: Pompe disease (PD) is a rare autosomal recessive genetic disorder (1 in 14,000) which affects the synthesis of acid alpha-glucosidase (AGA), leading to intralysosomal glycogen accumulation in muscle tissue. The clinical presentation is heterogeneous, with variable degrees of involvement and progression, classifiable based on the age of onset into infantile (classic or non-classic) and late-onset forms (juvenile or adult). The diagnostic test of choice is the enzymatic analysis of AGA, and the only pharmacological treatment is enzyme replacement therapy (ERT).

Infectious endocarditis without intracardiac devices or underlying structural heart disease.

Objective: To describe clinical, microbiological and echocardiographic aspects of endocarditis in a specific group of patients without intracardiac devices or underlying structural heart disease.

Method: Retrospective study, clinical records and echocardiographic reports were reviewed during the period 1997 to 2020. Duke's modified criteria were applied.

Exposure Assessment to Environmental Chemicals in Children from Ciudad Juarez, Chihuahua, Mexico.

It has been demonstrated that the human biomonitoring of susceptible populations is a valuable method for the identification of critical contaminants. Therefore, the purpose of this study was to assess the exposure profile for arsenic (As), lead (Pb), mercury (Hg), 1-hydroxypyrene (1-OHP), 1,1-bis(p-chlorophenyl)-2,2,2-trichloroethane (DDT), 1,1-dichloro-2,2-bis(p-chlorophenyl) ethylene (DDE), polybrominated diphenyl ethers (PBDEs), and polychlorinated biphenyls (PCBs) in children living in Ciudad Juarez, Chihuahua, Mexico (a major manufacturing center in Mexico). In 2012, we evaluated a total of 135 healthy children living in Ciudad Juarez since birth.

[Trichobezoar: presentation of three cases, clinical and psychological profile].

Introduction: The description of Trichobezoar is very ancient; it is an occasional entity and it mainly affects young women with deep psychopathology.

Cases Report: Three cases of teenagers with gastric Trichobezoar have been studied; their clinical evolution and diagnostic methods were analyzed. Their psychological profile and familiar environment were particularly studied in our hospital by gastroenterology and psychology.

[Risk factors associated with bronchiolitis in children under 2 years of age].

Introduction: The objective of this study was to determine the risk factors associated to bronchiolitis in infants less than two years of age.

Materials And Methods: Prospective case-control study was performed in a hospital of second level of attention. The sample size was calculated for a level of confidence of 95%, a power of 90%, and a difference of exposure of 15% between cases and controls.

[Germinal cancer of the ovary and pregnancy].

The association of ovarian cancer with pregnancy, in a young patient with acute abdominal syndrome was reviewed. The prognosis is related to early diagnosis and the stage, therefore ultrasonography is the corner stone to detect these tumors allowing a conservative management, mainly when the fertility must be maintained in younger patients. Chemotherapy is an excellent adjuvant in the midtrimester and can be administered without an important deleterious effect on the fetus.

Risk factors for amputation in diabetic patients: a case-control study.

Background: The objective was to quantify risk factors for lower extremity amputation in patients with diabetes mellitus in an attempt to prevent amputation.

Methods: This investigation was conducted as a case control study among diabetic males from 30-90 years of age with an average clinical duration of diabetes of 10 years: included were 80 cases which required a supracondyle amputation associated with diabetes mellitus, and 240 controls without injuries in the lower extremities. Measurements included the following: socioeconomic level, psychosocial risk factors, neuropathics, peripheral vascular factors, high blood pressure, smoking; environmental factors, health care, self care, and nutritional and metabolic factors in patients with diabetes mellitus before surgery.

[Importance of family support in the control of glycemia].

Objective: To determine the importance of family support in the control of glucemia in non-insulin-dependent diabetes mellitus patients.

Material And Methods: A case and control study was designed where cases were patients with glycemia < 140 mg/dl and controls, patients with glycemia > or = 140 mg/dl. Family support was determined using the questionnaire Environmental Barriers to Adherence Scales which estimates the support lent by the family to the patient to follow therapeutic indications.