PURPOSE: A flow diverter (FD) is an effective treatment option for intracranial aneurysms. The Flow Re-direction Endoluminal Device (FRED) is a relatively new flow diverter with a unique dual-layer design. We report our experience and short-term results with the FRED. MATERIALS AND METHODS: We did a retrospective review of all consecutive cases in which the FRED was used to treat intracranial aneurysms at a single institution from March 2014 till December 2015. Clinical parameters, aneurysm characteristics, technical results and short-term outcomes were reviewed. RESULTS: Eleven intracranial aneurysms were treated with the FRED in 11 patients. The technical device deployment success rate was 100%. Immediate reduction in intra-aneurysmal flow after deployment was noted in 10 cases. The aneurysm occlusion rate at 6 months was 75%. There was 1 complication of in-stent thrombosis immediately after deployment. There was no side branch occlusion, delayed aneurysm rupture, stroke, or intraparenchymal haemorrhage. There was no neurological deficit, morbidity, or mortality. CONCLUSION: The FRED is a new FD. It has shown to be safe and effective in our series. The unique dual-layer design of the device renders it to have technical advantages over other FDs. The 6-month aneurysm occlusion rate and complication profile of FRED are similar to other FDs.
Aneurysm ; Follow-Up Studies* ; Humans ; Intracranial Aneurysm* ; Mortality ; Retrospective Studies ; Rupture ; Stents ; Stroke ; Thrombosis

Anemia, Sideroblastic ; complications ; Bone Marrow Cells ; pathology ; Female ; Humans ; Hydrops Fetalis ; etiology ; Infant, Newborn ; Pancreatic Diseases ; complications

Splenic artery embolization plays an important role in the management of various medical and surgical conditions that are non-traumatic in etiology, in addition to its well-established and widely discussed role in managing splenic trauma. In nontraumatic emergencies of catastrophic bleeding originating from the spleen or splenic artery, splenic artery embolization can be effective in achieving hemostasis as a definitive management, temporary stabilizing measure, or preoperative optimization technique. In addition to emergency clinical conditions, splenic artery embolization can be performed electively as an alternative to splenectomy for managing patients with hypersplenism.Herein, we report 6 cases of splenic artery embolization performed at our center to highlight its various indications. This article aims to demonstrate the role of splenic artery embolization in different clinical scenarios and the considerations behind the techniques employed through illustrative cases.

Although rare, hepatic artery aneurysms are associated with a high morbidity and mortality, necessitating a prompt diagnosis. A significant proportion of hepatic artery aneurysms are pseudoaneurysms, and the major risk factors of which have already been identified in previous literatures. Presentation can be variable, but diagnosis almost relies entirely on computed tomography and digital subtraction angiography. The endovascular approach has progressively become the preferred option due to its better performance when compared to the traditional surgical approach. However, formulation of an endovascular treatment plan for these lesions remains difficult as multiple factors should be considered to identify the best endovascular treatment modality. Five cases of pseudoaneurysm due to recent Whipple operation, hepatobiliary infections, and underlying malignancy are presented in this article to illustrate the effectiveness and complexity of endovascular treatment in this disease entity.

BACKGROUNDData of classical inborn errors of metabolism (IEM) of amino acids, organic acids and fatty acid oxidation are largely lacking in Hong Kong, where mass spectrometry-based expanded newborn screening for IEM has not been initiated. The current study aimed to evaluate the approximate incidence, spectrum and other characteristics of classical IEM in Hong Kong, which would be important in developing an expanded newborn screening program for the local area.

METHODSThe laboratory records of plasma amino acids, plasma acylcarnitines and urine organic acids analyses from year 2005 to 2009 inclusive in three regional chemical pathology laboratories providing biochemical and genetic diagnostic services for IEM were retrospectively reviewed.

RESULTSAmong the cohort, 43 patients were diagnosed of IEM, including 30 cases (69%) of amino acidemias (predominantly citrin deficiency, hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency and tyrosinemia type I), 5 cases (12%) of organic acidemias (predominantly holocarboxylase synthetase deficiency) and 8 cases (19%) of fatty acid oxidation defects (predominantly carnitine-acylcarnitine translocase deficiency). The incidence of classical IEM in Hong Kong was roughly estimated to be at least 1 case per 4122 lives births, or 0.243 cases per 1000 live births. This incidence is similar to those reported worldwide, including the mainland of China. The estimated incidence of hyperphenylalaninemia was 1 in 29 542 live births.

CONCLUSIONSOur data indicate that it is indisputable for the introduction of expanded newborn screening program in Hong Kong. Since Hong Kong is a metropolitan city, a comprehensive expanded newborn screening program and referral system should be available to serve the neonates born in the area.

Acids ; urine ; Amino Acids ; blood ; Carnitine ; analogs & derivatives ; blood ; Hong Kong ; epidemiology ; Humans ; Infant, Newborn ; Metabolism, Inborn Errors ; blood ; diagnosis ; epidemiology ; urine ; Neonatal Screening ; methods ; Tandem Mass Spectrometry

Vitamin D is essential for maintaining calcium and phosphate homeostasis, and vitamin D analogues have been prescribed to treat osteoporosis and hyperparathyroidism. Emerging evidence suggests that cardiovascular and chronic kidney diseases are closely associated with vitamin D deficiency resulting from either decreased sunshine exposure or inadequate intake. Vitamin D is through stimulating vitamin D receptor to form a transcriptional complex with cofactors to modulate approximately 3% gene transcription. For example, renin, matrix metalloprotease, and tumor necrosis factor-α are regulated by vitamin D. Both experimental and clinical studies support the health benefits of vitamin D in the cardiovascular system, and such benefits include protecting cardiac function, lowering blood pressure, improving endothelial function, inhibiting oxidative stress, and reducing the activity of renin-angiotensin system. This article will briefly review the cardiovascular benefits of vitamin D and its bioactive analogues and discuss the novel cellular and molecular mechanisms accounting for cardiovascular protection.
Blood Pressure ; Calcium ; physiology ; Cardiovascular Diseases ; physiopathology ; Cardiovascular Physiological Phenomena ; Endothelium, Vascular ; physiology ; physiopathology ; Humans ; Oxidative Stress ; Receptors, Calcitriol ; physiology ; Renin-Angiotensin System ; Vitamin D ; analogs & derivatives ; physiology ; Vitamin D Deficiency ; physiopathology

Homeodomain Proteins ; genetics ; Humans ; Infant, Newborn ; Male ; Mutation ; Promoter Regions, Genetic ; Sleep Apnea, Central ; congenital ; genetics ; Syndrome ; Transcription Factors ; genetics

Hyperphenylalaninemia is one of the commonest inborn errors of metabolism affecting approximately 1 in 15,000 livebirths. Among Chinese, BH4 deficiency leading to hyperphenylalaninemia is much commoner than in Caucasians. Exact diagnosis is important for the treatment and genetic counseling. In 2000, newborn screening for phenylketonuria is mandatory by law in China throughout the whole country. However, it is not yet included in the newborn screening program of the Hong Kong Special Administrative Region, China. Published data on hyperphenylalaninemia among HongKong Chinese are largely lacking. We report a 1-year-old Hong Kong Chinese girl with severe 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. The patient presented with infantile hypotonia and was misdiagnosed as cerebral palsy. She had very mild hyperphenylalaninemia (95 μmol/L), significantly high phenylalnine-to-tyrosine ratio (3.1), and elevated prolactin of 1109 mIU/L. Genetic analysis confirmed a homozygous known disease-causing mutation PTS NM_000317.1:c.259C>T; NP_000308.1: p.P87S in the proband. In our local experience, while the estimated prevalence of hyperphenylalaninemia due to PTPS deficiency was reported to be 1 in 29,542 live births, not a single case of phenylalanine hydroxylase deficiency has been reported. Furthermore, there is a general lack of awareness of inherited metabolic diseases in the community as well as among the medical professionals. Very often, a low index of clinical suspicion will lead to delay in diagnosis, multiple unnecessary and costly investigations, prolonged morbidity and anxiety to the family affected. We strongly recommend that expanded newborn screening for hyperphenylalaninemia should be implemented for every baby born in the Hong Kong Special Administrative Region, China.
Asian Continental Ancestry Group ; China ; Female ; Hong Kong ; Humans ; Infant ; Mass Screening ; Phenylketonurias ; diagnosis

Background: The occurrence of Graves’ disease and Hashimoto thyroiditis after coronavirus disease 2019 (COVID-19) raised concerns that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) may trigger thyroid autoimmunity. We aimed to address the current uncertainties regarding incident thyroid dysfunction and autoimmunity among COVID-19 survivors. Methods: We included consecutive adult COVID-19 patients without known thyroid disorders, who were admitted to Queen Mary Hospital from July 21 to September 21, 2020 and had serum levels of thyroid-stimulating hormone, free thyroxine, free triiodothyronine (fT3), and anti-thyroid antibodies measured both on admission and at 3 months. Results: In total, 122 patients were included. Among 20 patients with abnormal thyroid function tests (TFTs) on admission (mostly low fT3), 15 recovered. Among 102 patients with initial normal TFTs, two had new-onset abnormalities that could represent different phases of thyroiditis. Among 104 patients whose anti-thyroid antibody titers were reassessed, we observed increases in anti-thyroid peroxidase (TPO) (P<0.001) and anti-thyroglobulin (P<0.001), but not anti-thyroid stimulating hormone receptor titers (P=0.486). Of 82 patients with negative anti-TPO findings at baseline, 16 had a significant interval increase in anti-TPO titer by >12 U, and four became anti-TPO-positive. Worse baseline clinical severity (P=0.018), elevated C-reactive protein during hospitalization (P=0.033), and higher baseline anti-TPO titer (P=0.005) were associated with a significant increase in anti-TPO titer. Conclusion Most patients with thyroid dysfunction on admission recovered during convalescence. Abnormal TFTs suggestive of thyroiditis occurred during convalescence, but infrequently. Importantly, our novel observation of an increase in anti-thyroid antibody titers post-COVID-19 warrants further follow-up for incident thyroid dysfunction among COVID-19 survivors.

Background: The occurrence of Graves’ disease and Hashimoto thyroiditis after coronavirus disease 2019 (COVID-19) raised concerns that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) may trigger thyroid autoimmunity. We aimed to address the current uncertainties regarding incident thyroid dysfunction and autoimmunity among COVID-19 survivors. Methods: We included consecutive adult COVID-19 patients without known thyroid disorders, who were admitted to Queen Mary Hospital from July 21 to September 21, 2020 and had serum levels of thyroid-stimulating hormone, free thyroxine, free triiodothyronine (fT3), and anti-thyroid antibodies measured both on admission and at 3 months. Results: In total, 122 patients were included. Among 20 patients with abnormal thyroid function tests (TFTs) on admission (mostly low fT3), 15 recovered. Among 102 patients with initial normal TFTs, two had new-onset abnormalities that could represent different phases of thyroiditis. Among 104 patients whose anti-thyroid antibody titers were reassessed, we observed increases in anti-thyroid peroxidase (TPO) (P<0.001) and anti-thyroglobulin (P<0.001), but not anti-thyroid stimulating hormone receptor titers (P=0.486). Of 82 patients with negative anti-TPO findings at baseline, 16 had a significant interval increase in anti-TPO titer by >12 U, and four became anti-TPO-positive. Worse baseline clinical severity (P=0.018), elevated C-reactive protein during hospitalization (P=0.033), and higher baseline anti-TPO titer (P=0.005) were associated with a significant increase in anti-TPO titer. Conclusion Most patients with thyroid dysfunction on admission recovered during convalescence. Abnormal TFTs suggestive of thyroiditis occurred during convalescence, but infrequently. Importantly, our novel observation of an increase in anti-thyroid antibody titers post-COVID-19 warrants further follow-up for incident thyroid dysfunction among COVID-19 survivors.