We describe the case of a 16-year-old girl who presented neonatally with abnormal liver function tests and ascites. She was extensively investigated at that time. A liver biopsy showed hepatitis and fatty changes. [unboundmedicine.com]

We observed that some patients had presented with different prenatal or perinatal forms of edema in some kindreds. Within weeks or months after birth, these exhibited a spontaneous, complete and definitive resorption. [ncbi.nlm.nih.gov]

Clinical description The clinical presentation of the disease is very heterogeneous. [rarediseases.info.nih.gov]

Iron depletion, most often by phlebotomy, is proposed when ferritinemia reaches the threshold of 1000 ng/ml or when iron liver overload is present. [malacards.org]

• Laboratory Technician

  Patients with HC1 may present later in life with macrocytosis, anemia, reticulocytosis, intermittent jaundice, gallstones, a palpable spleen tip, stomatocytosis, or because cold hemolysis was noted by an astute laboratory technician. [oncologynurseadvisor.com]

• Sputum

  Bronchoscopy revealed thick copious yellowish sputum throughout her right upper lobe and suction was performed. Her husband recalled that the patient had generalised weakness throughout the pregnancy. [dokumen.tips]

• Recurrent Abdominal Pain

  Recurrent abdominal pain led to cholecystectomy at 15 years. Studies showed no evidence of preferential splenic sequestration or destruction, so splenectomy was not performed. [fn.bmj.com]

• Heart Murmur

  A heart murmur and mild heart failure was noted at day. On day 2, marked abdominal swelling was noted and shown to be due to ascites. One week later, she became jaundiced and the bilirubin was 109 lmol/l (100 lmol/l conjugated). [docplayer.net]

• Skin Edema

  No skin edema and, in particular, nonuchal edema, were detected. [docslide.fr]

• Vaginal Bleeding

  Th ere was no sign of internal bleeding and vaginal bleeding was minimal. She lost consciousness later and was intubated by the anaesthetist. She was transferred to intensive care with an intravenous dopamine infusion. [dokumen.tips]

• Anisocytosis

  The peripheral smear showed anisocytosis and marked stomatocytosis (panel A: peripheral blood, original magnification ×100; anisopoikilocytosis and increased stomatocytes [arrow]). [bloodjournal.org]

  Haemoglobin was 159 g/l at birth, mean corpuscular volume 95–97 fl, with anisocytosis, occasional fragments, and target cells. White cells and platelets were normal. [fn.bmj.com]

  Of note was a disarray of liver cell plates with marked anisocytosis and widespread steatosis in predominantly small vacuoles (Fig 2B). There were a few shrunken, deeply eosinophilic hepatocytes and occasional giant hepatocytes. [docplayer.net]

• Anisopoikilocytosis

  The peripheral smear showed anisocytosis and marked stomatocytosis (panel A: peripheral blood, original magnification ×100; anisopoikilocytosis and increased stomatocytes [arrow]). [bloodjournal.org]

  Her blood film was re-examined at this stage and showed anisopoikilocytosis with stomatocytes, target cells and some cells with two areas of central pallor) (Fig 1). [docplayer.net]

  A blood film showed reticulocytosis (14%), anisopoikilocytosis, schistocytes, and target cells (fig 3). Her haemolytic anaemia was extensively investigated, a striking finding being decreased osmotic fragility. [fn.bmj.com]

Splenectomy is a highly deleterious treatment, because it favors, with virtually no exception, the occurrence of thromboembolic disease. We describe here the extreme case of a patient with DHS and an associated sickle cell trait. [kclpure.kcl.ac.uk]

Symptomatic treatment of the hydrops assists survival until spontaneous resorption occurs. [ncbi.nlm.nih.gov]

Management and treatment Treatment is mainly symptomatic. Occurrence of cholelithiasis should be regularly monitored. Folic acid supplementation should be proposed in case of anemia. Pregnancy should be closely monitored. [rarediseases.info.nih.gov]

Treatment There is no specific treatment for Hereditary Stomatocytosis, but some patients who have the disorder take folic acids, a water-soluble vitamin, because most of these cells use this vitamin. [hereditarystomatocytosiskw.weebly.com]

Prognosis Overall prognosis is favorable in well managed patients (not splenectomized and with regular monitoring of their iron status). Splenectomized patients are at risk of early or late thrombotic events. Last updated: 12/15/2015 [rarediseases.info.nih.gov]

Splenectomy is contraindicated in DHS due to an elevated risk of life threatening arterial and venous thrombotic events.PrognosisOverall prognosis is favorable in well managed patients (not splenectomized and with regular monitoring of their iron status [malacards.org]

DHS is a rare cause of ascites with a relatively benign prognosis (Ami et al. 2009). It is defi ned by mild anaemia, increased mean corpuscular volume and increased mean corpuscular haemoglobin concentration. [dokumen.tips]

The importance of this rare condition lies in its relatively benign prognosis compared with the more common and more devastating causes of non-immune fetal hydrops (parvovirus infection, cardiac malformation or dysfunction, and aneuploidy). [fn.bmj.com]

Prognosis Some clinical problems in Hereditary Stomatocytosis are mild enough to let the patient live a normal life. Although Gallstones can be a problem, that can be easily fixed with a surgery. [hereditarystomatocytosiskw.weebly.com]

Congenital/surgery Animals Female Humans Hydrops Fetalis/genetics* Hydrops Fetalis/surgery Intermediate-Conductance Calcium-Activated Potassium Channels/genetics* K562 Cells Male Mice Mutation, Missense* Splenectomy/adverse effects Thromboembolism/etiology [ncbi.nlm.nih.gov]

Etiology Most reported DHS cases are caused by gain-of-function mutations in the gene PIEZO1 (16q24.3) which encodes part of a mechanosensitive ion channel. [rarediseases.info.nih.gov]

Salomon, Jonathan Rosenblatt, Romain Favre, Véronique Houfflin‐Debarge, Bernard Broussin, Fabien Guimiot, Honorine Fenaux, Anne‐Lise Delezoide and Françoise Muller, Biochemical analysis of ascites fluid as an aid to etiological diagnosis: a series of [doi.org]

The etiology of these disorders of cation permeability is unknown. [medtextfree.wordpress.com]

Articles include: Epidemiology of Pulmonary Arterial Hypertension, Pathology of Pulmonary Hypertension, Genetics of Pulmonary Arterial Hypertension, Diagnosis of Pulmonary Arterial Hypertension, Pulmonary Hypertension Owing to Left Heart Disease, Pulmonary [books.google.com]

Epidemiology The prevalence of DHS is unknown but to date, about 20 families with DHS have been described in the literature. Clinical description The clinical presentation of the disease is very heterogeneous. [rarediseases.info.nih.gov]

Epidemiology, modes of transmission and prevention of infections and the need for routine use of current infection control measures as recommended by the U.S. centers for disease control and prevention. DHS 105.17(1n)(a)2.g. g. [docs.legis.wisconsin.gov]

Our findings also suggest a new role for mechanotransduction in red blood cell biology and pathophysiology. [ncbi.nlm.nih.gov]

The primary defect is in the anion transporter, band 3 (see section on “Pathophysiology”). [oncologynurseadvisor.com]

It is this protein which mediates the cation leaks which are characteristic of this disease. [1] Pathophysiology [ edit ] Osmosis leads to the red blood cell having a constant tendency to swell and burst. [en.wikipedia.org]

Koralkova P, van Solinge WW, van Wijk R: Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis. Int J Lab Hematol 2014 Jun;36(3):388-397 4. [mayomedicallaboratories.com]

Th e pathophysiology of fetal oedema in DHS is unclear. It is likely that it would result from the dysfunction of an ion channel, or an ion channel regulating protein in red cells (Ogburn et al. 2001). [dokumen.tips]

[…] to disasters As the number and scope of threats to U.S. interests from hackers have grown in recent years, cyberterrorism prevention has become a key aspect of DHS homeland security efforts. [searchcompliance.techtarget.com]

This month, let’s recognize the many roles that we can all play in preventing child abuse and neglect. [humanservices.elpasoco.com]

The Family Violence Prevention and Services Program is an initiative that supports the establishment, maintenance and expansion of programs and projects to prevent family violence. [dhs.dc.gov]

Masterson said the DHS is connecting social media companies with local election officials to help them identify disinformation online and prevent it from spreading. [cnet.com]