Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 2 de 2
Filter
Add more filters










Database
Language
Publication year range
1.
Horm Metab Res ; 55(10): 653-664, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37813097

ABSTRACT

X-linked hypophosphatemia (XLH) associated with short stature during childhood are mostly referred to the hospital and diagnosed as vitamin D deficiency rickets and received vitamin D before adulthood. A case is presented with clinical features of hypophosphatemia from childhood who did not seek medical care for diagnosis and treatment, nor did his mother or two brothers, who have short statures, bone pain, and fractures. The patient was assessed for sociodemographic, hematological, and biochemical parameters together with a genetic assessment. A DEXA scan and X-ray were done to determine the abnormalities and deformities of joints and bones despite clinical examination by an expert physician. All imaging, laboratory parameters, and the genetic study confirmed the diagnosis of XLH. A detailed follow-up of his condition was performed after the use of phosphate tablets and other treatments. X-linked hypophosphatemia needs a good assessment, care, and follow up through a complementary medical team including several specialties. Phosphate tablets in adulthood significantly affects clinical and physical improvement and prevention of further skeletal abnormality and burden on daily activity. The patients should be maintained with an adequate dose of phosphate for better patient compliance. More awareness is needed in society and for health professionals when conducting medical checkups during the presence of stress fractures, frequent dental and gum problems, rickets, short stature, or abnormality in the skeleton or walking to think of secondary causes such as hypophosphatemia. Further investigations including a visit to a specialist is imperative to check for the primary cause of these disturbances.


Subject(s)
Familial Hypophosphatemic Rickets , Hypophosphatemia , Adult , Humans , Male , Bone and Bones , Familial Hypophosphatemic Rickets/diagnosis , Familial Hypophosphatemic Rickets/genetics , Familial Hypophosphatemic Rickets/drug therapy , Hypophosphatemia/complications , Hypophosphatemia/drug therapy , Hypophosphatemia/genetics , Phosphates/therapeutic use , Vitamin D/therapeutic use
2.
Yale J Biol Med ; 94(2): 277-284, 2021 06.
Article in English | MEDLINE | ID: mdl-34211348

ABSTRACT

Malaria is a major mosquito-borne public health problem especially in tropical countries. The authors report a malaria infection in a 31-year-old man who had returned from East Africa with developed fever and rigor. Because of his thrombocytopenia, decreased hemoglobin, elevated liver enzymes, and splenomegaly, and because of failure to question about recent travel history, he was initially referred to the hematological hospital and medical staff suspected a hematological problem, so he was investigated for bone marrow aspirate and biopsy. As he progressively deteriorated, and after retaking history, his relatives eventually came to mention their travel to Africa. Blood samples were sent to detect malarial parasites, but the results were negative. When an internist was consulted, the patient was drowsy with low oxygen saturation (SpO2), so he was intubated and put on continuous positive airway pressure (CPAP). The internist suggested empirical anti-malarial treatment, which improved the clinical and hematological conditions of the patient. However, the repeated thin blood film showed falciparum malaria ring-shaped trophozoites. The patient persisted with the same treatment for 1 week until his condition improved gradually and completely stabilized, and then he was discharged. Presentation of this case of malaria is crucial to outpatient clinics' proper referral of cases, as is encouraging the physician to think of malaria as a cause of fever and rigor even in countries with eradicated malaria and to insist on mentioning travel history. It is also imperative, in the case of sustaining fever with further deterioration of the patient after proper antibiotic use, to start empirical anti-malarial treatment immediately.


Subject(s)
Antimalarials , Malaria, Falciparum , Malaria , Adult , Animals , Antimalarials/therapeutic use , Humans , Malaria/drug therapy , Malaria, Falciparum/drug therapy , Male , Oxygen Saturation , Travel
SELECTION OF CITATIONS
SEARCH DETAIL
...