Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The process of adaptation for extrauterine life can be easily disturbed by respiratory insufficiency. The surfactant deficiency as well as anatomical and physiological immaturity of a newborn can be considered as etiological factors in some diseases, such as respiratory distress syndrome (RDS), transient tachypnoea (TT) syndrome, segmental atelectasis or pneumonia complicated by atelectasis. The widespread used method of treatment is based on mechanical increase of difference between alveolar and atmospheric pressure. So-called constant distending pressure (CDP) increases functional residual capacity (FRC), keeps alveoli open and finally increases oxygenation of arterial blood. During 3 years period continuous positive airway pressure by nasal route (n-CPAP) was used as only one method in 26 newborns. The newborns were treated because of RDS (15 cases) and pneumonia with atelectasis (11 cases). n-CPAP was starting with pressure 8 cm H2O (0.8 kPa) and FIO2 0.5, if atelectasis with severe dyspnea, hypoxia and forced hyperventilation were found. This method was very well tolerated. 22 newborns treated for 2-7 days--survived, 4 small-for-date babies--died. The most common cause of death was septicaemia complicated by disseminated intravascular coagulation. The moderate hyperbilirubinemia, oliguria with tissue oedema was observed in many cases. The light nostril decubitus were only complications. No pneumothorax was detected. We found n-CPAP as a simple, safe method in treatment of atelectasis in newborns.
 ...
PMID:[Continuous positive pressure respiration by nasal route (n-CPAP) as a preferred treatment method in various types of acute respiratory insufficiency in newborn infants]. 637 92

p57Kip2, one of the cyclin-dependent kinase (CDK) inhibitors, has been suggested to be a tumor suppressor candidate. To elucidate its biological roles in mouse development and tumorigenesis, we created p57Kip2-deficient mice. The p57Kip2-deficient mice exhibited a cleft palate and defective bone formation resulting in severe dyspnea. Most of the p57Kip2-deficient mice died within 24 h after birth, while about 10% of them survived beyond the weaning period. All of the surviving mice showed severe growth retardation. The males showed immaturity of the testes, prostate and seminal vesicles, and the females showed vaginal atresia, immaturity of the uterus, and an increased number of atretic follicles. Although Yan et al. and Zhang et al. have already reported p57Kip2-deficient mice, they could not investigate the phenotypes of the surviving p57Kip2-deficient mice. Also, most of the symptoms of Beckwith-Wiedemann syndrome could not be reproduced in the mutant mice. Embryonic fibroblasts prepared from p57Kip2-deficient mice showed no differences in the proliferation rate and saturation density, suggesting that G1 arrest is largely independent of p57Kip2 function. Our results suggest that p57Kip2 plays a critical role in development, but do not support the hypothesis that the p57Kip2 gene is a tumor-suppressor gene or is responsible for Beckwith-Wiedemann syndrome.
 ...
PMID:Mice lacking a CDK inhibitor, p57Kip2, exhibit skeletal abnormalities and growth retardation. 1073 69

The diagnosis and treatment of acute respiratory distress or dyspnea in children needs to consider the age-related major causes, but also the rare causes. In neonates, congenital abnormalities, immaturity of the lungs, perinatal complications and infections are major causes, in infants bronchiolitis/obstructive bronchitis and croup, while in older children and adolescents acute asthmatic attacks and pneumonia predominate. Of critical importance is a clear diagnostic classification, assessment of severity, securement of adequate oxygenation and a carefully taken decision for hospital or ambulatory treatment. Where indicated, less invasive therapeutic options (inhaled bronchodilators, rectal or oral steroids) are to be preferred over more invasive (i.m., i.v.) alternative measures.
 ...
PMID:[Acute dyspnea in childhood. Croup or foreign body--bronchiolitis or asthma?]. 1452 73

Several pain scales are available for newborns, but the assessment of pain in these preverbal beings, who are in continuing neurological development, remains challenging for healthcare teams. Although neonates at the end of life are particularly vulnerable to pain and discomfort, no assessment tool has been validated in this specific population. The difficulties for assessing pain in this context are copies of those potentially encountered in other situations. Questions arise about the limits of the available scales, about possible alterations of responses to a noxious stimulus in particular contexts (extreme immaturity, brain lesions), about possibly painful situations in palliative care, about the nature of scales to choose. Data show a perception of pain at a cortical level by extremely immature infants and the ability for neonates with significant neurological injury to express pain behaviours. For some potentially painful situations (dyspnoea, gasps, hunger) neonatal data are virtually nonexistent. Fundamental scientific data and clinical data from adults and children can give some answers. One will choose scales for which the staff is trained, easily usable (preference for behavioural scales), validated for all gestational ages, reliable in the event of neurological impairment or sedation. An assessment of prolonged pain (EDIN scale or COMFORT Behaviour scale) combined with measures of acute pain (DAN or NFCS scales) is recommended. These scales should be better validated for populations of newborns and situations that are specific to palliative care. A better assessment of the parental perception and of their distress about the discomfort or pain of their child is warranted.
 ...
PMID:[Problems for assessing the newborns' pain in palliative care]. 2072 11

Mixed-phenotype acute leukemia is a rare form of leukemia that is associated with a poor prognosis. Most cases of mixed-phenotype acute leukemia are de novo. However, therapy-related mixed-phenotype acute leukemia can occur, and are often associated with exposure to topoisomerase-II inhibitors and alkylating agents. There are no known treatment guidelines for therapy-related mixed-phenotype acute leukemia. We present a patient with T/myeloid mixed-phenotype acute leukemia secondary to rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone R-CHOP chemotherapy for primary cutaneous diffuse large B-cell lymphoma. The patient's leukemic cells express CD34, an immaturity marker, CD3, a T-cell marker, and myeloperoxidase, a myeloid marker, and her history of chemotherapy for previous lymphoma supports the diagnosis of therapy-related T/myeloid mixed phenotype acute leukemia. Clinicians should be aware that this entity could be associated with R-CHOP chemotherapy. Given the complexity in diagnosis, and lack of treatment guidelines, a further understanding of the pathological and genetic principles of therapy-related mixed-phenotype acute leukemia will assist in future efforts to treat and categorize these patients. Mixed phenotype acute leukemia is a rare entity that accounts for two to five percent of all acute leukemias. Therapy- related mixed phenotype acute leukemia is an exceedingly rare hematological neoplasm that accounts for less than one percent of acute leukemias. We describe a case of therapy-related T/myeloid mixed phenotype acute leukemia following rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone R-CHOP chemotherapy for primary cutaneous diffuse large B-cell lymphoma DLBCL. The patient is a 63-year-old female who presented with several cutaneous nodules diagnosed as primary cutaneous DLBCL. The patient received R-CHOP chemotherapy and achieved remission. She remained in remission for four years until she presented with dyspnea, night sweats, weakness, and diffuse lymphadenopathy. Her presentation was initially concerning for recurrent lymphoma; however, a bone marrow biopsy and aspirate and a lymph node biopsy revealed a distinct blast population consistent with T/myeloid mixed phenotype acute leukemia T/M-MPAL. Given the patient's history of previous chemotherapy exposure, our patient represents a case of therapy-related T/myeloid mixed phenotype acute leukemia t-MPAL.
...
PMID:THERAPY-RELATED T/MYELOID MIXED PHENOTYPE ACUTE LEUKEMIA IN A PATIENT TREATED WITH CHEMOTHERAPY FOR CUTANEOUS DIFFUSE LARGE B CELL LYMPHOMA. 2698 62