Albuminuria, Disease Duration, and Glycated Hemoglobin Are Related With Bone Mineral Density in Type 1 Diabetes: A Cross-sectional Study.

OBJECTIVE: Studies have found a significant decrease in bone mineral density (BMD) in individuals with type 1 diabetes (T1D) compared to healthy controls. Factors associated with this phenomenon have yet to be defined; therefore, this study aimed to explore the association of glycated hemoglobin (HbA1c), disease duration, albuminuria, and glomerular filtration rate with BMD in adults with T1D. METHODS: A cross-sectional study was carried out in tertiary care center. BMD analysis was performed by dual x-ray absorptiometry. Linear models were constructed considering variables associated with BMD. Approval from the ethics committees and informed consent were obtained. RESULTS: We included 128 participants, of whom 59% were women, and 16% had menopause. The median age was 33 (26-42) years. The average age of diabetes diagnosis was 15.3 ± 6.3 years, and the median disease duration was 19.5 (12-27) years. In the adjusted analysis, higher albuminuria (P < .01) and disease duration (P < .05) were associated with a lower BMD in the femoral neck and total hip, independently of age, sex, and body mass index (BMI). Higher HbA1c (P < .01) was associated with a lower spine BMD after adjustment for age, sex, and BMI. CONCLUSION: Studied factors specific to T1D, including albuminuria, disease duration, and HbA1c have an association with BMD regardless of BMI, age, and sex.

Diabetes mellitus and optic atrophy: study of the Wolfram syndrome / Diabetes mellitus y atrofia óptica: estudio del síndrome de Wolfram

Background: Wolfram syndrome (WS), also known by the acronym DIDMOAD, is a rare and progresive hereditary disease of autosomal recessive inheritance which minimum ascertainment diagnostic criteria are the occurrence together of diabetes mellitus and optic atrophy before 15 years of age. Objective: To describe the clinical, biochemical and molecular profile of WS in a tertiary care hospital in Mexico. Materials and Methods: We reviewed patients records who fulfill the minimum ascertainment diagnostic criteria of WS presenting between January 1987 and May 2015 in a tertiary care hospital in Mexico. Results: Five patients fulfill the inclusion criteria (three male and two female). Diabetes mellitus was the first manifestation of the syndrome in all of them, with a mean age at diagnosis of 5.8 ± 2.71 years, while the WS diagnosis was established at a mean age of 15.8 ± 8.37 years. All the patients had optic atrophy and two of them presented with the complete DIDMOAD spectrum. We found new associations with autoimmune hepatitis and testicular cancer. Conclusions: This study shows the variability of clinical presentation of WS, as well as two new associations.

Antecedentes: El síndrome de Wolfram (SW), también conocido por el acrónimo DIDMOAD, es una enfermedad hereditaria rara y progresiva, de transmisión autosómica recesiva, cuyos criterios diagnósticos mínimos son diabetes mellitus y atrofia óptica antes de los 15 años de edad. Objetivo: Describir la presentación clínica, bioquímica y molecular del SW en un hospital de tercer nivel en México. Material y Métodos: Se revisaron los expedientes de pacientes que cumplían con criterios diagnósticos clínicos mínimos de SW atendidos entre enero de 1987 y mayo de 2015 en un hospital de tercer nivel en México. Resultados: Cinco pacientes cumplieron con los criterios de inclusión (tres hombres y dos mujeres). La diabetes mellitus fue la primera manifestación del síndrome en todos ellos, con una media de edad al diagnóstico de 5.8 ± 2.71 años, mientras que el diagnóstico del SW se estableció en promedio a los 15.8 ± 8.37 años. Todos los pacientes tenían atrofia óptica y dos presentaron el espectro DIDMOAD completo. Se describen nuevas asociaciones con hepatitis autoinmunitaria y cáncer de testículo. Conclusiones: El presente estudio muestra la variabilidad de presentación clínica del SW y dos asociaciones no descritas previamente.

[Osteoporosis]. / Osteoporosis.

Calcium intake has a role on the development of peak bone mass, and has a mild impact on the maintenance of bone mass during adulthood and the reduction of bone loss rate in postmenopausal women and the elderly in both genders. Calcium dietary intake should be privileged over supplementation. Dairy products are the main calcium dietary sources. Prospective studies have not clearly demonstrated an effect on the prevention of fractures, because of the practical difficulties of a long follow-up in order to get to solid conclusions; however the physiological rationale is that an adequate calcium intake and 25(OH) vitamin D levels exceeding 20 ng/ml is beneficial for bone health and may decrease to certain extent the risk of fractures.

Phosphaturic mesenchymal tumors. Survey of 8 cases from a single Mexican medical institution.

Phosphaturic mesenchymal tumor (PMT) is a morphologically heterogeneous soft tissue and bone neoplasm, producing a paraneoplastic syndrome due to phosphate wasting. These tumors produce fibroblast growth factor 23, which is implicated in renal tubule phosphate loss. Medical records of patients seen from 1999 to 2013 with osteomalacia associated or not with a tumor were reviewed. Clinical and laboratory data, radiographic studies, and follow-up of 8 patients were tabulated. Histologic features and the immunoprofile of the tumors were analyzed. There were 208 patients with osteomalacia, but only 8 (3.84%) had osteomalacia associated with a tumor. The median age of the patients was 40 years. The tumor size ranged from 1.5 to 4 cm. Five were located in soft tissues and skin; and 3, in bones. Osteomalacia symptoms lasted from 2 to 14 years with a median of 6 years. Laboratory data showed hypophosphatemia and phosphaturia in all patients. All tumors were histologically benign. Histologically, the salient features were a hemangiopericytoid pattern, chronic hemorrhage, and microcystic areas. All neoplasms were diffusely positive for vimentin and focally positive for epithelial membrane antigen, CD34, and S-100 protein. Ki-67 was positive in approximately 10% of neoplastic cells in 2 cases and less than 1% in the remainder. We report 8 cases of PMTs producing osteomalacia, from a single third-level Mexican medical institution. These tumors occurred in soft tissues, skin, and bones. All tumors were benign, small, not easily detected by physical examination and diagnosed due to the metabolic abnormalities.

[Male aged 31 years with polyneuropathy, prostration, and hypogonadism]. / Hombre de 31 años con polineuropatía, postración e hipogonadismo.

We present the case of a 31 year-old male patient, who presented polyneuropathy, symmetrical, ascending, and progressive, that led to prostration of eight months duration, accompanied by hypogonadism, hypothyroidism, hyperprolactinemia, and the presence of multiple erythematous nodules on the skin. The MRI showed hypointense lesions in the vertebrae T-6 and L-4 with sclerotic appearance. The bone marrow biopsy reported the presence of 12% plasma cells with A. restriction, supporting monoclonal gammopathy (plasmocytoma).

Clinical Practice Guidelines of the Latin American Federation of Endocrinology for the use of vitamin D in the maintenance of bone health: recommendations for the Latin American context.

INTRODUCTION: These guidelines aim to provide evidence-based recommendations for the supplementation of Vitamin D in maintaining bone health. An unmet need persists in Latin American regarding the availability of clinical and real-world data for rationalizing the use of vitamin D supplementation. The objective of these guidelines is to establish clear and practical recommendations for healthcare practitioners from Latin American countries to address Vitamin D insufficiency in clinical practice. METHODS: The guidelines were developed according to the GRADE-ADOLOPMENT methodology for the adaptation or adoption of CPGs or evidence-based recommendations. A search for high quality CPGs was complemented through a comprehensive review of recent literature, including randomized controlled trials, observational studies, and systematic reviews evaluating the effects of Vitamin D supplementation on bone health. The evidence to decision framework proposed by the GRADE Working Group was implemented by a panel of experts in endocrinology, bone health, and clinical research. RESULTS: The guidelines recommend Vitamin D supplementation for individuals aged 18 and above, considering various populations, including healthy adults, individuals with osteopenia, osteoporosis patients, and institutionalized older adults. These recommendations offer dosing regimens depending on an individualized treatment plan, and monitoring intervals of serum 25-hydroxyvitamin D levels and adjustments based on individual results. DISCUSSION: The guidelines highlight the role of Vitamin D in bone health and propose a standardized approach for healthcare practitioners to address Vitamin D insufficiency across Latin America. The panel underscored the necessity for generating local data and stressed the importance of considering regional geography, social dynamics, and cultural specificities when implementing these guidelines.

Latin-American consensus on the transition into adult life of patients with X-linked hypophosphatemia.

INTRODUCTION: X-linked hypophosphatemia is an orphan disease of genetic origin and multisystem involvement. It is characterized by a mutation of the PHEX gene which results in excess FGF23 production, with abnormal renal and intestinal phosphorus metabolism, hypophosphatemia and osteomalacia secondary to chronic renal excretion of phosphate. Clinical manifestations include hypophosphatemic rickets leading to growth abnormalities and osteomalacia, myopathy, bone pain and dental abscesses. The transition of these patients to adult life continues to pose challenges to health systems, medical practitioners, patients and families. For this reason, the aim of this consensus is to provide a set of recommendations to facilitate this process and ensure adequate management and follow-up, as well as the quality of life for patients with X-linked hypophosphatemia as they transition to adult life. MATERIALS AND METHODS: Eight Latin American experts on the subject participated in the consensus and two of them were appointed as coordinators. The consensus work was done in accordance with the nominal group technique in 6 phases: (1) question standardization, (2) definition of the maximum number of choices, (3) production of individual solutions or answers, (4) individual question review, (5) analysis and synthesis of the information and (6) synchronic meetings for clarification and voting. An agreement was determined to exist with 80% votes in favor in three voting cycles. RESULTS AND DISCUSSION: Transition to adult life in patients with hypophosphatemia is a complex process that requires a comprehensive approach, taking into consideration medical interventions and associated care, but also the psychosocial components of adult life and the participation of multiple stakeholders to ensure a successful process. The consensus proposes a total of 33 recommendations based on the evidence and the knowledge and experience of the experts. The goal of the recommendations is to optimize the management of these patients during their transition to adulthood, bearing in mind the need for multidisciplinary management, as well as the most relevant medical and psychosocial factors in the region.

Vitamin D Hydroxylation-deficient Rickets Type 1A Misdiagnosed as Normocalcemic Primary Hyperparathyroidism.

Vitamin D hydroxylation-deficient rickets type 1A is an autosomal recessive disorder caused by pathogenic variants in CYP27B1 gene, which encodes for 1α-hydroxylase, the enzyme responsible for the conversion of 25-OH vitamin D into its active form 1,25(OH)2 vitamin D. We report the case of a 3-year-old female Mexican patient with growth retardation and progressive bone deformity, whose laboratory studies showed 25-OH vitamin D deficiency, a normal serum calcium and an elevated intact parathyroid hormone level that remained high despite calcitriol, cholecalciferol, and calcium supplementation. 99mTc sestamibi gammagram showed findings suggestive of parathyroid hyperplasia. Bone histomorphometry showed an image consistent with hyperparathyroidism without findings of osteomalacia, so normocalcemic primary hyperparathyroidism was suspected and a subtotal parathyroidectomy was performed, with the patient developing postoperative hypoparathyroidism. When she arrived at our clinic at age 18 years, she showed calcium- and calcitriol-dependent hypocalcemia, with secondary hyperparathyroidism and low levels of 1,25(OH)2 vitamin D in the absence of a 25-OH vitamin D deficiency, reflecting a defect in 1α-hydroxylation. Molecular testing revealed compound heterozygous variants in CYP27B1 gene. This is the first reported case of an inherited disorder of vitamin D metabolism that was diagnosed and surgically treated as primary hyperparathyroidism.

Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report.

Diastrophic dysplasia (DTD) is caused by biallelic pathogenic variants in the SLC26A2 gene. We report the case of a 49-year-old female with DTD and esophageal stenosis. This broadens the phenotypic spectrum in adult patients with DTD and raises awareness of extra-skeletal manifestations that could develop in later stages of life.

[Vitamin D and its positive effect on the PTH/vitamin D/calcium-FGF23/klotho/phosphorus axis in kidney transplant recipients]. / Vitamina D y su efecto positivo sobre el eje PTH/vitamina D/calcio-FGF23/klotho/fósforo en pacientes con trasplante renal.

Introduction: Background: hypovitaminosis D is frequent in kidney transplant recipient (KTR) patients and is associated with deleterious effects both at the bone and extraosseous levels. Treatment with cholecalciferol is effective for the normalization of 25(OH)D, demonstrating a beneficial effect on the calcium-tropic axis in other populations; however, its effect on the PTH/vitamin D/calcium and FGF23/klotho/phosphorus axis in RTR has not been reported. The aim of this study was to evaluate the effect of normalization of serum 25(OH)D concentrations on the PTH/vitamin D/calcium-FGF23/klotho/phosphorus axis in KTR treated with cholecalciferol, as well as the association between the components of this axis. Methods: a prospective study in 23 KTR with hypovitaminosis D, with evolution from 1 to 12 months post-transplantation, an estimated glomerular filtration rate > 60 mL/min/1.73 m2 and a history of primary nephropathy treated with cholecalciferol, in whom the PTH/vitamin D/calcium and FGF23/klotho/phosphorus axis was evaluated during the state of hypovitaminosis D and at normalization of 25(OH)D. Results: at the normalization of 25(OH)D, a reduction in PTH [103 (58.5-123.9) vs 45.6 (30.1-65.1) pg/mL; p = 0.002] and an increase in serum phosphorus [3.1 (2.3-3.5) vs 3.3 (3-3.6) mg/dL; p = 0.01] were evident, with no differences in calcium, klotho and FGF23 concentrations. The time to achieve normalization of 25(OH)D was 12 weeks (RIC, 4-12), with a dose of 5000 IU/day (RIC, 4000-6000). A positive association between klotho and PTH was corroborated (r = 0.54; p = 0.008; linear regression, ß = 0.421; B = 0.004; 95 % CI, 0.003-0.007; p = 0.045). Conclusions: treatment with cholecalciferol is effective for the normalization of 25(OH)D, with a beneficial effect on calcium-phosphotropic metabolism characterized by a reduction in PTH concentration, without significant changes in calcemia or calciuria, as well as an increase in phosphatemia, without modifications in FGF23 or klotho concentrations.

Introducción: Introducción: la hipovitaminosis D es frecuente en los receptores de trasplante renal (RTR) y se asocia con efectos deletéreos tanto a nivel óseo como extraóseo. El tratamiento con colecalciferol es eficaz para la normalización de la 25(OH)D, demostrándose un efecto benéfico sobre el eje calciotrópico; sin embargo, su efecto sobre el eje fosfotrópico no se ha reportado. El objetivo de este estudio fue evaluar el efecto de la normalización de las concentraciones séricas de 25(OH)D sobre el eje PTH/vitamina D/calcio-FGF23/klotho/fósforo en RTR tratados con colecalciferol, así como la asociación entre sus componentes. Métodos: estudio prospectivo en 23 RTR con hipovitaminosis D y antecedente de nefropatía primaria tratados con colecalciferol, en quienes se evaluó el eje PTH/vitamina D/calcio y FGF23/klotho/fósforo durante el estado de hipovitaminosis D y a la normalización de la 25(OH)D. Resultados: a la normalización de la 25(OH)D se evidenció una reducción de la PTH [103 (58,5-123,9) vs. 45,6 (30,1-65,1) pg/mL; p = 0,002] y un aumento del fósforo sérico [3,1 (2,3-3,5) vs. 3,3 (3-3,6) mg/dL; p = 0,01], sin diferencias en las concentraciones de calcio, klotho y FGF23. El tiempo para lograr la normalización de la 25(OH)D fue de 12 semanas (4-12), con una dosis de 5000 UI/día (4000-6000). Se corroboró una asociación positiva entre klotho y PTH (r = 0,54; p = 0,008; regresión lineal, ß = 0,421; IC 95 %: 0,003-0,007; p = 0,045). Conclusiones: el tratamiento con colecalciferol es eficaz para la normalización de la 25(OH)D con un efecto benéfico sobre el metabolismo calcio-fosfotrópico caracterizado por una reducción de la PTH y un incremento de la fosfatemia, sin modificaciones de calcemia, calciuria, FGF23 o klotho.

A novel nonsense mutation in the insulin receptor gene in a patient with HAIR-AN syndrome and endometrial cancer.

Severe insulin resistance can be caused by rare genetic defects in the insulin receptor known as insulin receptoropathies. These genetic defects cause a wide spectrum of clinical manifestations ranging from mild syndromes to lethal disorders. Among those is the HAIR-AN an extreme subtype of polycystic ovary syndrome (PCOS). We present a case of a 29-year-old woman with amenorrhea, severe insulin resistance, hirsutism, and acanthosis nigricans who also developed endometrial cancer. She was found to carry a novel heterozygous nonsense mutation insulin receptor gene (INSR). The mutation was inherited from the mother. Levels of insulin receptor and AKT were measured using Western-Blot from peripheral blood mononuclear cells and were both decreased. Thus, we conclude that the identified mutation in the insulin receptor gene and lead to decreased activity of the downstream signaling of the insulin pathway.

Long-term effects of hypercalcemia in kidney transplant recipients with persistent hyperparathyroidism.

BACKGROUND: Hypercalcemia is highly prevalent in kidney transplant recipients with hyperparathyroidism. However, its long-term impact on graft function is uncertain. METHODS: We conducted a prospective cohort study investigating adverse graft outcomes associated with persistent hypercalcemia (free calcium > 5.2 mg/dL in ≥ 80% of measures) and inappropriately elevated intact parathyroid hormone (> 30 pg/mL) in kidney transplant recipients. Asymptomatic mild hypercalcemia was monitored unless complications developed. RESULTS: We included 385 kidney transplant recipients. During a 4-year (range 1-9) median follow-up time, 62% of kidney transplant recipients presented persistent hypercalcemia. Compared to kidney transplant recipients without hypercalcemia, there were no significant differences in graft dysfunction (10% vs. 12%, p = 0.61), symptomatic urolithiasis (5% vs. 3%, p = 0.43), biopsy-proven calcium deposits (6% vs. 5%, p = 1.0), fractures (6% vs. 4%, p = 0.64), and a composite outcome of urolithiasis, calcium deposits, fractures, and parathyroidectomy indication (16% vs. 13%, p = 0.55). In a subset of 76 kidney transplant recipients, subjects with persistent hypercalcemia had higher urinary calcium (median 84 [43-170] vs. 38 [24-64] mg/day, p = 0.03) and intact fibroblast growth factor 23 (median 36 [24-54] vs. 27 [19-40] pg/mL, p = 0.04), and lower 25-hydroxyvitamin D levels (11.3 ± 1.2 vs. 16.3 ± 1.4 ng/mL, p < 0.001). In multivariate analysis, pretransplant intact parathyroid hormone < 300 pg/mL was associated with a reduced risk of post-transplant hypercalcemia (OR 0.51, 95% CI 0.32-0.80). CONCLUSIONS: Long-term persistent mild hypercalcemia (tertiary hyperparathyroidism) was frequent in kidney transplant recipients in our series. This condition presented with lower phosphate and 25-hydroxyvitamin D, and higher urinary calcium and intact fibroblast growth factor 23 levels compared to kidney transplant recipients without hypercalcemia, resembling a mild form of primary hyperparathyroidism. Despite these metabolic derangements, the risk of adverse graft outcomes was low.

Primary amenorrhea in two sisters: description of a Mexican family with 17α hydroxylase-17 lyase deficiency caused by arginine - stop mutation.

A rare cause of congental adrenal hyperplasia is 17α-hydroxylase deficiency. It results in sexual infantilism, primary amenorrhea in females, pseudohermaphroditism in males, hypertension, and hypokalemia. We studied two female siblings from a rural community in Mexico. The cause of consultation was primary amenorrhea. The proband had low levels of estrogen, progesterone and cortisol. Deoxycorticosterone and corticosterone levels were elevated. The proband was homozygous for a transversion of cytosine to thymine at exon 4 (CGA→TGA), causing a premature stop codon at position 239 (R239X). Analysis of family members showed the presence of this heterozygous mutation in the mother, father and one healthy sibling. In summary, we describe a Mexican family with 17α-hydroxylase deficiency due to R239X mutation.

X-linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment.

X-linked hypophosphatemia (XLH) is a rare disexase in which patients present with severe bowing of the legs, joint pain, and mobility problems. XLH has major adverse repercussions on the quality of life.

Validation of an equation for free calcium estimation: accuracy improves after adjustment for phosphate and CO2.

PURPOSE: Free calcium is the gold standard for diagnosis of calcium disorders, although calcium assessment is routinely performed by albumin-adjusted calcium. Our objective was to develop a novel-specific correction equation for free calcium employing serum total calcium and other analytes. METHODS: Retrospective single-center cohort study. A new equation for free calcium assessment was formulated from data of hospitalized patients (n = 3481, measurements = 7157) and tested in a validation cohort (n = 3218, measurements = 6911). All measurements were performed simultaneously from the same blood draw. RESULTS: Total CO2 and phosphate, in addition to albumin, were the principal factors associated to calcium misdiagnosis. A novel laboratory-specific prediction equation was developed: free calcium (mmol/L) = 0.541 + (total calcium [mmol/L] *0.441) - (serum albumin [g/L] *0.0067) - (serum phosphate [mmol/L] *0.0425) - (CO2 [mmol/L] *0.003). This new equation substantially improved adjusted R2 to 0.67 (95% CI 0.78-0.82, p < 0.001; Kendall's c-tau: 0.28, p < 0.001). Bland-Altman plots of estimated free calcium and free calcium showed a mean difference of - 0.0006 mmol/L (LOA + 0.126 to - 0.124). In validation cohort, the AUC-ROC curves for hypercalcemia and hypocalcemia diagnosis deploying the new equation were 0.88 (95% CI 0.86-0.89, p < 0.001) and 0.98 (95% CI 0.97-99, p < 0.001), respectively, which were superior to historical formulas for calcium. In univariate models, eGFR was associated with Ca-status misdiagnosis, yet this association disappeared when analysis was adjusted to phosphate and CO2. CONCLUSIONS: The novel equation proposed for prediction of free calcium could be useful when free calcium is not available. The conventional formulas misclassify many patients, in particular when phosphate or bicarbonate disturbances are present.

[Bone mineral density in patients with type 2 diabetes]. / Densidad mineral ósea en pacientes con diabetes tipo 2.

OBJECTIVE: To establish whether type 2 diabetes (T2D) is associated with changes in the bone mineral density (BMD) of femoral neck, total hip and lumbar spine. MATERIAL AND METHODS: Comparative cross-sectional study that included 450 patients aged 30 years or more; 245 with, and 205 without T2D. Groups were matched by age. Degenerative joint disease, rheumatoid arthritis, neoplasia, renal failure, chronic liver disease, alcohol intake, prior treatment with drugs that modulate the BMD, Diabetes Mellitus Type 1 and other endocrinopathies were exclusion criteria. RESULTS: In the overall group, the presence of menopause was associated with osteoporosis in the hip (odds ratio -OR-4.2; CI95% 1.4-6.1), whereas T2D was a protective factor (OR 0.8; CI95% 0.4-0.9). Among premenopausal women, central obesity and total adiposity were associated with osteoporosis in the hip (OR 1.9; CI95% 1.1-3.9 and OR 2.1; CI95% 1.2-8.7) and femoral areas (OR 2.1; CI95% 1.2-4.1 and OR 2.3; CI95% 1.3-7.1); T2D remained as protective factor (OR 0.7; CI95% 0.5-0.9 and OR 0.6; CI95% 0.4-0.9). The adjusted analysis by BMI, waist circumference, and total adiposity showed that T2D remained as a protective factor for osteoporosis in the hip (OR 0.8; CI95% 0.6-0.9) and femoral areas (OR 0.7; CI95% 0.5-0.9). CONCLUSIONS: Our results suggest that T2D is an independent protective factor for osteoporosis.

Impaired glucose tolerance with neurological manifestations in insulinoma.

Insulinoma may have an atypical presentation and it should be suspected in patients with neurological manifestations in spite of an atypical insulin and proinsulin levels associated with hypoglycemia. Fast test is an important tool to reach the diagnosis.

Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors.

Introduction. Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla and from the extra-adrenal autonomic paraganglia, respectively. Only 1-3% of head and neck PGL (HNPGL) show elevated catecholamines, and at least 30% of Pheo and PGL (PCPG) are associated with genetic syndromes caused by germline mutations in tumor suppressor genes and proto-oncogenes. Clinical Case. A 33-year-old man with a past medical history of resection of an abdominal PGL at the age of eleven underwent a CT scan after a mild traumatic brain injury revealing an incidental brain tumor. The diagnosis of a functioning PGL was made, and further testing was undertaken with a PET-CT with 68Ga-DOTATATE, SPECT-CT 131-MIBG, and genetic testing. Discussion and Conclusion. The usual clinical presentation of functioning PCPG includes paroxistic hypertension, headache, and diaphoresis, sometimes with a suggestive family history in 30-40% of cases. Only 20% of PGL are located in head and neck, of which only 1-3% will show elevated catecholamines. Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation. However, different phenotypes can be observed depending on such germline mutations. Genetic testing is important in patients with PCPG since 31% will present a germline mutation. In this particular patient, an SDHB gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered. A multidisciplinary approach is mandatory for every patient presenting with PCPG.SDHB gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered. A multidisciplinary approach is mandatory for every patient presenting with PCPG.

[Degree of control of cardiovascular risk factors among a patient population with diabetes mellitus type 1 and 2]. / Grado de control de factores de riesgo cardiovascular en una población de pacientes con diabetes mellitus tipo 1 y 2 de difícil manejo.

OBJECTIVE: To evaluate the degree of control of metabolic goals in a group of very selected type 1 and 2 diabetic patients. METHODS: A cross-sectional and descriptive study was done. Patients were enrolled consecutively in the Diabetes Clinic in a tertiary-care hospital in México City during the period between april and july 2005. The population at this clinic is very selected as demonstrated by the fact that all type 2 diabetic patients were treated with drugs for diabetic control, including insulin in 43% of them. We used the goals recommended by the American Diabetes Association (ADA) as parameters to analyze and additionally included non-HDL cholesterol and the atherogenic index. RESULTS: A total of 530 patients were included; 468 (58.8% female) had type 2 diabetes, with an average age of 58.5 years; 62 (65% female) patients had type 1 diabetes, with an average age of 31.2 years. The mean HbA1c values were 10.2 +/- 2.8 and 9.0 +/- 2.4 in type 1 and type 2 diabetic patients, respectively. The proportion of diabetic type 1 and 2 patients reaching treatment goals were 12.9% and 23.7% for HbA1c (p=0.02), 82.2% and 57.2% for both systolic and diastolic blood pressure (p=0.0001), 75.8% and 49.3% for triglycerides (p=0.0001), 45.1% and 35.6% for LDL-c (p=0.16), 51.6% and 53.4% for HDL-c (p=0.79), 56.4% and 43.3% for non-HDL cholesterol (p=0.03) and 58.0% and 55.1% for atherogenic index (p=0.66), respectively. The proportion of patients reaching all the optimal treatment goals (non-HDL cholesterol, HbA1c, arterial blood pressure and triglycerides) was 6.4% for type 1 diabetic patients and 4.4% for type 2 patients (p=0.6). Factors associated with achieving goal values in a multiple regression analysis were drug treatment for high blood pressure, use of lipid lowering drugs, insulin use and a history of stroke. CONCLUSIONS: Our results are not comparable with other publications of series evaluating the same parameters in open populations. The results show that the degree of control of evaluated risk factors is not good, principally in the case of glucemic control; it is necessary to plan strategies that help to reach these goals in diabetic patients.