Discrepancia entre SpO2 y SaO2: diagnóstico de cuatro generaciones / From SpO2 and SaO2 discrepancy to diagnosing four generations

Pulse oximetry measures the peripheral oxy-haemoglobin saturation (SpO2) which is a surrogate marker for arterial oxy-haemoglobin saturation (SaO2). SaO2 estimation is subjected to both oximeter proper functioning, patient characteristicsand haemoglobin disturbances. A 82-year-old man goes to the emergency with cough, dyspnoea and fever. He has haemolytic anaemia. His kids also have anaemia. Examination showed fine crackles in pulmonary auscultation of the lower two thirds of the right lung and splenomegaly. SpO2 was 80% (FiO2 21%). Arterial blood gas analysis: pH 7.514; PaCO2 23.4 mmHg; PaO2 43.2 mmHg; Hb 13.0 g/dL. Chest X-ray suggested an infectious process. He was admitted to the hospital with the diagnosis of pneumonia. During hospitalization we verify discrepancy between SpO2 and SaO2; haemolytic anaemia. The patient had a respiratory improvement and was discharged to external consult, dying months later. To clarify the discrepancy between SpO2 and SaO2 results; confirm the hereditary nature and identify the haemolytic anaemia, we conducted a retrospective familiar study based on the patient’s clinical processes. Three children were identified with anaemia. Two of the children have known their anaemia for 35 years - studied in the context of respiratory infections with haemolytic crisis due to Lepore haemoglobinopathy and β thalassemia, respectively. The patient previously diagnosed with Lepore haemoglobinopathy, currently undergoing hospital anaemia study, was diagnosed with Köln Hb. The discrepancy between SpO2 and SaO2 in association with a familiar haemolytic anaemia resulted in the diagnosis of autosomal dominant Köln haemoglobinopathy. The advances in the means of diagnosis enabled the probable diagnosis of 19 family members distributed over 4 generations. (AU)

Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia.

Diamond-Blackfan Anemia (DBA) is a rare polygenic disorder defined by congenital hypoplastic anemia with marked decrease or absence of bone marrow erythroid precursors. Identifying the specific genetic etiology is important for counseling and clinical management. A 6-yr-old boy with a clinical diagnosis of DBA has been followed by our pediatric hematology team since birth. His clinical course includes transfusion-dependent hypoplastic anemia and progressive autoimmune cytopenias. Genetic testing failed to identify a causative mutation in any of the classical DBA-associated genes. He and his parents underwent trio whole-exome sequencing (WES) with no genetic etiology identified initially. Clinical persistence and suspicion led to testing for adenosine deaminase 2 (ADA2) activity and whole-genome sequencing (WGS) that identified compound heterozygous pathogenic mutations in the ADA2-encoding CECR1 gene, a recently appreciated etiology for congenital hypoplastic anemia. This case illustrates current challenges in genetic testing and how they can be overcome by multidisciplinary expertise in clinical medicine and genomics.

Renovascular hypertension secondary to congenital hypoplasia of renal arteries in middle adult patient. About a case / Hipertensión renovascular secundaria a hipoplasia congénita de arterias renales en un paciente adulto joven. A propósito de un caso

Abstract The tubular hypotrophy of the renal arteries constitutes a rare clinical entity, that is associated with the appearance of renovascular hypertension. Its diagnostic approach is complex and requires the availability of angiography to determine the features of the renal vessels. The following case exemplifies the diagnostic process of a patient with this special clinical situation.

Resumen La hipotrofia de aspecto tubular de las arterias renales constituye una rara entidad clínica asociada a la aparición de hipertensión renovascular. Su enfoque diagnóstico es complejo y exige la disponibilidad de angiografía para determinar las características propias del contorno de la vasculature renal. El caso clínico considerado en este artículo ejemplifica el proceso diagnóstico de un paciente con esta particular situación.

Congenital hypoplastic bone marrow failure associated with a de novo partial deletion of the MECOM gene at 3q26.2.

Congenital hypoplastic bone marrow failure is a rare condition in neonates. The genetics and mechanisms behind are largely obscure. Here we characterize a neonate presenting with congenital thrombocytopenia and anemia. During the first 2-4 weeks after birth the neonate developed severe neutropenia while the lymphoid lineages were unaffected. The neonate was without dysmorphic signs. A de novo mono-allelic constitutional microdeletion of 175.1 kb at 3q26.2 affecting exon 2 of MECOM, involving MDS1 but not EVI1, was identified as the only copy number alteration by oligo-based array-CGH analysis. Expression analysis showed profoundly reduced expression of multiple MECOM transcripts in the bone marrow cells. Whole exome sequencing detected no pathogenic mutations in genes known to be associated with inherited bone marrow failure syndromes. The patient was successfully treated with hematopoietic stem cell transplantation at 5 months of age. Interstitial deletions encompassing the 3q26.2 region are very rare. A literature search revealed two previous cases with microdeletions involving this region, and the cases were associated with congenital thrombocytopenia and anemia, but unaffected lymphopoiesis. Together these data indicate that MECOM may be important for normal myeloid hematopoiesis in humans but dispensable for lymphoid differentiation. We suggest that partial deletion in MECOM may be a primary event associated with congenital pancytopenia.

In vitro generated Rh(null) red cells recapitulate the in vivo deficiency: a model for rare blood group phenotypes and erythroid membrane disorders.

Lentiviral modification combined with ex vivo erythroid differentiation was used to stably inhibit RhAG expression, a critical component of the Rh(rhesus) membrane complex defective in the Rh(null) syndrome. The cultured red cells generated recapitulate the major alterations of native Rh(null) cells regarding antigen expression, membrane deformability, and gas transport function, providing the proof of principle for their use as model of Rh(null) syndrome and to investigate Rh complex biogenesis in human primary erythroid cells. Using this model, we were able to reveal for the first time that RhAG extinction alone is sufficient to explain ICAM-4 and CD47 loss observed on native Rh(null) RBCs. Together with the effects of RhAG forced expression in Rh(null) progenitors, this strongly strengthens the hypothesis that RhAG is critical to Rh complex formation. The strategy is also promising for diagnosis purpose in order to overcome the supply from rare blood donors and is applicable to other erythroid defects and rare phenotypes, providing models to dissect membrane biogenesis of multicomplex proteins in erythroid cells, with potential clinical applications in transfusion medicine.

Effects of the Sikle Cell (S) Gene on Serum Protein Profile

Total serum protein, albumin, total globulin levels, albumin/globulin ratio as well as the various globulin fractions were determined in 96 subjects, 39 are sickle cell (SS) disease subjects (steady state), and 30 are heterozygous sickle cell (AS) trait and 27 normal control subjects. The mean standard deviation of total protein was significantly higher (P< 0.05) in sickle cell disease when compared with heterozygous AS and normal controls. There was also significant difference (P<0.05) between AS and AA. The albumin level in sickle cell disease was significantly higher than in the other two groups. There was hyperglobuneamia observed in SS individuals with a mean ±SD of 32.6±10.0g/L when compared with AS and AA subjects with a mean ±SD of 30.8± 5.9g/L and 26.7±6.2g/L respectively. There also exist a significant difference between AS and AA (P <0.005). The Albumin/Globulin ratio is significantly lower (P <0.05) in SS than the other two groups but there was no significant difference (P>0.05) observed between AS and AA controls. The globulin fractions were observed to be higher in AS individuals except the gamma globulin which is higher in SS subjects. The hyperproteineamia as a result of the hyperglobulineamia is due to the globulin fraction present in the serum of SS individuals. The AS individuals are protected from various infectious disease conditions because of the high acute phase reactants and ß- globulin present in their serum as these has been observed to exert some immunioregulatory role

Neutrophil functions in patients with inherited bone marrow failure syndromes.

BACKGROUND: The inherited bone marrow failure syndromes (IBMFS) include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome (SDS). Previous studies reported decreased neutrophil chemotaxis in patients with SDS; there are no reports of neutrophil function in other IBMFS. In this study we examined neutrophil respiratory burst function in IBMFS patients. PROCEDURE: Samples from 43 IBMFS patients and 61 healthy family members were collected, shipped, and analyzed within 24 hr. We also studied samples from 12 healthy control persons immediately after collection. Neutrophils were stimulated with phorbol 12-myristate acetate (PMA) and N-formyl-methyonyl-leucyl-phenylalanine (fMLP), and respiratory burst analyzed by reduction of dihydro-rhodamine and cytochrome c. RESULTS: There was no significant difference in the degree of fMLP or PMA-driven respiratory burst activity between each of the IBMFS subgroups and their respective family members. There was also no difference in respiratory burst activity between any IBMFS, pooled group of all healthy family members and healthy controls. CONCLUSIONS: Neutrophil respiratory burst activity from IBMFS patients does not differ from that of healthy family members and controls.

Hematopoietic stem cell transplantation in childhood inherited bone marrow failure syndrome.

Aplastic anemia is a rare disease in children that is most commonly idiopathic and less often a hereditary disorder. Hereditary bone marrow failure (BMF) syndromes, however, should be considered both in children and in adults before any attempt at treatment. Precise diagnosis is important because it will modify prognostic treatment options and the results of bone marrow transplantation. In this review, we will report recent results of treatment of Fanconi anemia and other hereditary BMF syndromes.

Anemia de Blackfan-Diamond. Presentación de un caso y revisión de la literatura / Blackfan-Diamond Anemia. A case report and review of the literature

La aplasia congénita de la serie roja es una rara causa de anemia hipoplásica congénita, generalmente secundaria a una mutación esporádica. Por su amplio espectro de presentación puede ser de difícil diagnóstico, aunque está descrito un fenotipo característico. La corticolterapia produce la remisión completa en un gran porcentaje de estos pacientes. La ausencia de repuesta a ésta plantea la realización de un trasplante alogénico de médula de dónate HLA idéntico, preferentemente familiar. Si no se dispone de donante adecuado es preciso aplicar una terapia sustitutiva con transfusiones. La hemosiderosis secundaria puede causar una gran morbimortalidad. Nuevas terapias inmunosupresoras con resultados diversos y el uso de la quelación oral podrían cambiar el pronóstico de forma importante. Presentamos, una paciente de diagnóstico precoz, en la que se evidenció una mutación esporádica, resistente a los tratamientos convencionales y no convencionales que, gracias a la quelación oral, ha mejorado radicalmente sus cifras de ferritina, evitando las complicaciones de la hemosiderosis. Actualmente está en espera para acceder a un programa de fertilización para selección embrionaria de posible donante, ya que no posee donante familiar histocompatible (AU)

Congenital aplasia of the red cell series is a rare cause of congenital hypoplastic anemia, generally secondary to sporadic mutation. Due to its wide presentation spectrum, it may be difficult to diagnose, although a characteristic phenotype is described. Corticosteroid therapy may produce complete remission in a large percentage of these patients. Lack of response to it suggests the performance of an allergenic bone marrow transplant form an identical HLA donor, preferably a relative. If no adequate donor is available, substitution treatment must be given with transfusions. Secondary hemosiderosis may cause great morbidity-mortality. New immunosuppressant therapies with different results and the use of oral chelation may change the prognosis significantly. We present the case of a patient with early diagnosis in whom sporadic mutation was observed that was resistant to conventional and non-conventional treatments. Thanks to oral chelation, her ferritin values have radically improved, thus avoiding the complications of hemosiderosis. At present, she is waiting to access a fertilization program for embrionary selection of a possible donor, since she has no histocompatible family donor (AU)

Anemia de Blackfan-Diamond y Síndrome de Ehlerls Danlos Tipo IV. Presentación de un caso / Blackfan-Diamond anemia And Syndrome of Ehlers Danlos type IV. Presentation of case

La anemia Hipoplásica Eritroide Congénita o Síndrome de Blackfan-Diamond es una enfermedad poco frecuente, se caracteriza por baja talla, anemia normocítica normocrómica severa con reticulopenia e hipoplasia eritroide. Puede presentar defectos vasculares, esqueléticos y dismorfias faciales que se evidencian antes del año de edad. El Síndrome de Ehlers-Danlos tipo IV es un trastorno hereditario del tejido conectivo con manifestaciones clínicas muy variadas y formas de moderada a severa, con hiperlaxitud de la piel e hipermovilidad articular y fragilidad del sistema vascular afectando múltiples órganos y sistemas con elevado índice de mortalidad. Reportamos un caso de un paciente de 15 años de edad que debutó a los 3 meses de nacido con una anemia Hipoplásica Eritroide Congénita y un Síndrome de Ehlers-Danlos, ha recibido tratamiento con glóbulos y prednisona y tiene una evolución satisfactoria a pesar de presentar estas dos entidades clínicas (AU)

Anemia de Blackfan-Diamond y Síndrome de Ehlerls Danlos Tipo IV: presentación de un caso / Blackfan-Diamond anemia And Syndrome of Ehlers Danlos type IV: presentation of case

La anemia Hipoplásica Eritroide Congénita o Síndrome de Blackfan-Diamond es una enfermedad poco frecuente, se caracteriza por baja talla, anemia normocítica normocrómica severa con reticulopenia e hipoplasia eritroide. Puede presentar defectos vasculares, esqueléticos y dismorfias faciales que se evidencian antes del año de edad. El Síndrome de Ehlers-Danlos tipo IV es un trastorno hereditario del tejido conectivo con manifestaciones clínicas muy variadas y formas de moderada a severa, con hiperlaxitud de la piel e hipermovilidad articular y fragilidad del sistema vascular afectando múltiples órganos y sistemas con elevado índice de mortalidad. Reportamos un caso de un paciente de 15 años de edad que debutó a los 3 meses de nacido con una anemia Hipoplásica Eritroide Congénita y un Síndrome de Ehlers-Danlos, ha recibido tratamiento con glóbulos y prednisona y tiene una evolución satisfactoria a pesar de presentar estas dos entidades clínicas

Congenital erythroblastic or Hypoplastic anemia or Syndrome of Blackfan-Diamond is a little frequent disease, which is characterized by low stature, erithroblastic severe monocytic anemia with reticulopenia and hypoplasia. It can present vascular and skeletal defects, and dimorphism face that developed before the year of age. The Syndrome of Ehlers-Danlos type IV is a hereditary disorder of the connective tissue with very varied clinical manifestations and forms from moderate to severe, with increased elasticity of the skin and articular hyper-mobility and fragility of the vascular system, multiple organs and systems being affected with high mortality rate. We present the case of a 15 year old patient who made his debut at three mo of age, born with congenital Hypoplastic anemia and syndrome of Ehlers-Danlos. He has received treatment with globules and prednisone and had a satisfactory evolution in spite of presenting these two clinical entities.

Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7.

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome that has the potential to progress to pancytopenia and acute myeloid leukemia. Hematopoietic stem-cell transplantation (HSCT) is presently the only curative treatment approach. We used a reduced intensity transplantation regimen in a CAMT patient with aplastic anemia and monosomy 7 who had no matched related donor. The patient had rapid and durable engraftment with minimal complications and is well 24 months post-transplantation. Thus, reduced intensity conditioning might be a feasible approach to stem-cell transplantation in patients with CAMT who do not have a related donor and who are at increased risk of toxicity from standard conditioning regimens.

Anesthetic management of Cesarean delivery in a patient with hypoplastic anemia and severe pre-eclampsia.

PURPOSE: To describe the anesthetic management of Cesarean delivery in a patient with hypoplastic anemia and severe pre-eclampsia. CLINICAL FEATURES: A 28-yr-old parturient with a history of thrombocytopenia was admitted with signs of pre-eclampsia (blood pressure of 140/90 mmHg, heavy proteinuria and moderate bilateral ankle edema) at 25 weeks of gestation. Laboratory studies revealed pancy-topenia (hemoglobin 6.4 g.dL(-1), white cell count 3.43 x 10(9).L(-1), platelet count 20 x 10(9).L(-1)) and bone marrow biopsy showed hypoplastic anemia. As pre-eclampsia worsened, a Cesarean delivery was performed at 27 weeks with prophylactic platelet transfusion and meticulous blood pressure control. The procedure was uneventful, conducted under general anesthesia with an estimated blood loss of around 600 mL and a live female baby was delivered. Postoperatively her blood pressure and neurological symptoms improved but thrombocytopenia remained at discharge. CONCLUSIONS: Hypoplastic anemia is rare in pregnancy but it poses an increased risk for both mother and fetus. The mother is at risk of life-threatening episodes of bleeding and infection and a multidisciplinary team approach (obstetrician, anesthesiologist, hematologist and pediatrician) is essential. An accurate assessment of the hematological condition should be made and abnormalities corrected before surgery. Regional anesthesia may not be possible in this circumstance.

Differential diagnosis and management of anemia in the newborn.

Neonatal anemia is a condition with a diverse etiologic spectrum.Therefore, in order to form a focused differential diagnosis, it is important for the caregiver to have some knowledge of the more common causes of low hemoglobin and hematocrit concentrations in the neonate. Proper history taking, physical examination, and interpretation of diagnostic tests can narrow this focus and aid in establishing an accurate diagnosis and in directing the appropriate therapeutic interventions.

A Case of Congenital Hypoplastic Anemia

No abstract available.

A Case of Congenital Hypoplastic Anemia

No abstract available.

Three Cases of Congenital Hypoplastic Anemia

No abstract available.

A Case of Congenital Hypoplastic Anemia

No abstract available.