BACKGROUND

Six-pyruvoyl-tetrahydrobiopterin synthase (6-PTPS) deficiency is an inherited metabolic disorder which results in tetrahydrobiopterin (BH4) deficiency causing hyperphenylalaninemia.

This study aimed to describe the clinical, biochemical, and radiologic profiles, and neurologic and developmental outcomes of patients diagnosed with 6-pyruvoyl tetrahydrobiopterin (PTPS) deficiency through newborn screening and confirmed by BH4 loading test, pterin analysis, and gene sequencing who were following-up with the metabolic team.

The research was a single-center descriptive case series study design that was done at the Philippine General Hospital, a tertiary government hospital. The clinical, biochemical, radiologic profiles and neurodevelopmental evaluation of each patient were described.

Nine patients from 1 year 2 months to 14 years 5 months of age were enrolled in the study. Clinical manifestations before treatment were hypotonia, poor suck, and seizure. The most common clinical manifestation even after treatment initiation was seizure. The mean phenylalanine level on newborn screening was 990.68 umol/L, but after treatment was started, mean levels ranged from 75.69 to 385.09 umol/L. Two of the patients had focal atrophy of the posterior lobe on brain imaging. Pathogenic variants on molecular analysis were all missense, with two predominant variants, c.155A>G and c.58T>C. Eight of the nine patients had varying degrees of developmental delay or intellectual disability, while the remaining patient had signs of a learning disorder.

Newborn screening has played a crucial role in the early identification and management of patients with hyperphenylalaninemia due to 6-PTPS deficiency. Confirmation of diagnosis through determination of DHPR activity, urine pterins and/or molecular analysis is necessary for appropriate management. However, despite early initiation of treatment, neurodevelopmental findings of patients with 6-PTPS deficiency were still unsatisfactory.

Glycogen storage disease type Ⅱ （GSD Ⅱ）， also known as Pompe disease， is a common autosomal recessive lysosomal storage disease with predominantly muscle tissue involvement， and it is caused by defects in the GAA gene which encode acid α-D-glucosidase in lysosomes. According to the age of onset and the main organs involved， it is classified into infant-onset Pompe disease （IOPD） and late-onset Pompe disease（LOPD）. The diagnosis of this disease depends on the reduction in GAA enzyme activity， the detection of GAA gene mutations， and muscle tissue biopsy， and early diagnosis and treatment are crucial for prognosis. Recombinant human GAA（rhGAA） enzyme replacement therapy prepared by the gene recombination technology is currently the main disease-modifying treatment method for Pompe disease， among which the earliest drug alglucosidase α has shown good efficacy in improving muscle strength and respiratory function and prolonging survival time， and the new-generation rhGAA drugs avalglucosidase α and cipaglucosidase alfa provide new options， especially for patients with poor outcomes and severe symptoms. Substrate ablation therapy and gene therapy are still under exploration， and disease-modifying therapies combined with nutritional and exercise therapies and multidisciplinary long-term management will achieve twice the result with half the effort.
Diagnosis

Mitochondrial diseases are a group of hereditary disorders characterized by impaired oxidative phosphorylation in the mitochondrial respiratory chain caused by defects in either mitochondrial DNA or nuclear DNA， and such diseases have complex and diverse clinical manifestations and often involve multiple organs and systems， with the main manifestation of lesions in the nervous system and muscles due to their high energy demands. At present， there is still a lack of effective therapies for most mitochondrial diseases， and therefore， multidisciplinary management is essential in clinical practice， integrating various therapeutic approaches to provide personalized treatment regimens for patients with mitochondrial diseases. The primary treatment principle involves the timely correction of pathological and physiological abnormalities through pharmacological interventions， dietary modifications， and exercise management， along with the prompt treatment of system-specific impairments and the prevention of potential complications.
Diagnosis

Migraine is the most common neurological disorder with the highest disease burden， while the current outpatient diagnosis and treatment model cannot meet the requirements for reducing the disease burden of migraine， and it is necessary to reexamine its management from a patient-centered perspective. It should be recognized that the course of migraine is a dynamic process，and some clinical manifestations that are not included in the diagnostic criteria are meaningful for diagnosis.Several risk factors for the chronicity of migraine have been identified.In addition， various comorbidities can also affect diagnosis and treatment，and it is still unable to reliably predict the treatment response of migraine.Therefore， the management of migraine requires continuous revision of diagnosis and “trial-and-error” treatment.
Diagnosis

Nonconvulsive status epilepticus （NCSE） is a state of persistent epileptic seizure characterized by disturbance of consciousness or major neurological deficits， without obvious limb convulsions. Due to a lack of obvious clinical manifestations and the potential risk of neurological damage， current research focuses on rapid identification， accurate classification， and optimization of treatment strategies. Since there is a lack of obvious motor symptoms in NCSE， it is difficult for clinicians to quickly identify the disease through traditional signs， which poses great challenges to diagnosis， and underdiagnosis may lead to delayed treatment and poor prognosis. This article systematically reviews the epidemiological characteristics， clinical manifestations， and key diagnostic points of NCSE and discusses existing treatment regimens and prognosis， in order to provide a reference for clinical practice.
Diagnosis

practice guideline ; literature ; diagnosis ; endometriosis

BACKGROUND

Superficial mycoses are one of the most common skin conditions encountered in the outpatient clinics, causing significant morbidity amongst patients. Since these are highly prevalent diseases of the skin, the general practitioner should be able to manage uncomplicated cases, with no need for evaluation by a specialist.

The study aimed to determine the knowledge, attitudes, and practices of Filipino medical interns on the management of superficial cutaneous mycoses using a self-administered questionnaire. This may help identify possible gaps in knowledge, as well as obstacles these future clinicians may encounter when managing superficial mycoses. This in turn may assist in the development or improvement of dermatology training among medical students and continuing medical education programs amongst non-dermatologist physicians.

This is a descriptive cross-sectional study among medical interns of the Philippine General Hospital to investigate their knowledge, attitudes, and practices regarding the management of superficial mycoses. Eligible participants were asked to complete an online self-administered survey questionnaire which assessed their capacity to recognize and manage uncomplicated superficial mycoses, and determined their attitudes regarding dermatology training in medical school.

The study included 170 medical interns, with majority having only 1-4 weeks of cumulative duration of dermatology training in medical school. Many of the participants (67.1%) had inadequate overall knowledge scores, but this was not significantly associated with their cumulative duration of dermatology training, as well as with their frequency of encounters with superficial mycosis patients. Most deem dermatology training (92.4%) and learning about the management of superficial mycoses (91.2%) during medical school very important. Majority are interested in attending more courses or training in the subject. Recommendations to improve medical school training on superficial mycoses include more practical approach in dermatology modules, integration of dermatology electives in medical school, and longer duration of dermatology modules/rotations during medical school.

While knowledge scores of medical interns were not significantly associated with the duration of their dermatology training during medical school as well as their encounters with patients with superficial mycoses, it is shown that they have low confidence scores regarding management of superficial mycoses. They deem that learning more about this disease and dermatology in general is vital to their medical education and are desirous of more training in this subject. Recommendations to improve medical school training on superficial mycoses include dermatology modules, rotations or electives in medical school. Additionally, better training during medical school, and formulation of clinical practice guidelines specific to cutaneous mycoses were recommended to improve healthcare delivery for patients with such diseases.

Congenital heart disease is the most common birth defect, affecting 1%–1.2% of live born infants. Pulmonary atresia with intact ventricular septum (PA-IVS) accounts for <1% of all total heart defects. The cause of PA-IVS has been unclear. Thus, experience for prenatal diagnosis of PA-IVS is limited in any single institution. This is the case of a 28-year-old gravida 1 para 0 who came in at 34 + 5 weeks of gestational age. Fetal two-dimensional (2D) echocardiography revealed Type II PA-IVS, higher risk for univentricular circulation postnatally. She gave birth at term by vaginal delivery, with confirmed findings through a 2D echocardiography. Prenatal diagnosis of PA-IVS allows options for the termination of pregnancy, fetal cardiac interventional therapy, early postnatal initiation of prostaglandin E1, and planned early neonatal interventional surgeries for palliation and repair. Early assessment of fetal cardiac features is useful for a better outcome.

Herpes zoster is a clinical syndrome associated with reactivation of varicella zoster virus (VZV), often occurring years after VZV infection, and characterized typically by painful grouped vesicles in a dermatomal distribution. Bullous herpes zoster, an atypical presentation of herpes zoster, is a relatively rare phenomenon; to the authors’ knowledge, there have only been eight reports in worldwide literature. We present a case of a 59-year-old female with lupus nephritis who presented with multiple grouped vesicles evolving into large tender bullae filled with serosanguinous fluid on the lateral aspect of the right leg, and dorsal and medial aspects of the right foot, four days after the first dose of 1g of rituximab therapy. The diagnosis of bullous herpes zoster along L4-L5 dermatomes was made based on the clinical presentation and the presence of multinucleated giant cells on Tzanck smear. The giant bullae were drained and dressed, and the patient was treated with valacyclovir at the renally adjusted dose of 1g once a day for seven days and pregabalin 150 mg once daily. After seven days of antiviral treatment, there were no new bullae or vesicles, and the pain improved. Recognizing this atypical presentation of a common disease, especially in patients with an immunocompromised state, highlights the importance of prompt recognition and treatment.
Human ; herpes zoster ; lupus nephritis ; rituximab ; diagnosis, differential

Objective: To identify in what phases in the treatment of head and neck cancer do delays happen at a tertiary hospital and to determine the association between the length of treatment delays and the oncologic outcomes (disease-free survival and overall survival) for patients with head and neck cancer. : Methods Design: Retrospective Cohort Study Setting: Tertiary National University Hospital Participants: Sixty-eight (68) patients who had surgery and adjuvant radiotherapy for invasive head and neck cancer at the Philippine General Hospital during the 5-year period of January 2014 to December 2019 were included in the initial consideration. Only 15 had survival data and were thus eligible for inclusion in this study. Results: The median treatment package time for head and neck cancers in our institution was 27.6 weeks or 193 days. The treatment package time statistically correlated with both overall survival, F(1,13)=12.952, p <0.005, R2=0.499, and disease-free survival, F(1-13)=12.823, p <0.005, R2= 0.497. However, the independent effects of other predictors such as time interval between first consult to histopathologic diagnosis, diagnosis to surgery, and surgery to post-operative radiotherapy, showed no statistically significant association with overall survival and disease free survival. Conclusion All study patients experienced treatment delays from diagnosis to surgery, and surgery to adjuvant radiation therapy, and in their total treatment package time. The positive correlation among treatment package time, and disease-free and overall survival in this study must be further investigated in order to elucidate the true effect of delays across time intervals in the treatment of head and neck cancer in the Philippine General Hospital. Every effort should be made towards timely management of these patients.
Head and Neck Neoplasms ; Radiotherapy ; Survival Rate ; Treatment Outcome ; Time-to-Treatment ; Surgery ; Disease-Free Survival ; Delayed Diagnosis ; Retrospective Studies ; Postoperative Care