الميزة السادسة هي الـ GIR
الـ GIR هو معدل اعطاء الكلوكوز للاطفال، كلش مهم بحالات هبوط السكر وهو لغة التواصل العلمية بين الاطباء
لمن تجي على طبلة، تلكي بيها مغذي مكتوب بشكل ما ١- سواء مكتوب خمس كلوكوز سلاين ٤٠٠ مل خلال ٢٤ ساعة
٢- او مكتوب خمس كلوكوز سلاين ٤٠٠ سي سي + ٣٠ سي سي هايبرتونك خلال ٢٤ ساعة
٣- او مكتوب يحضر خمس كلوكوز سلاين ٤٥٠ سيسي + ٥٠ سي سي هايبرتونك ويعطى للمريض ١٥٠ سي سي خلال ٢٤ ساعة
٤- او تكون تعرف تركيز المغذي شكد

حتى تفهم شديصير لهالمريض وهل الشغل صح لو غلط لازم تحسب الـ GIR ، وقبل لا تحسب الـ GIR لازم تحسب تركيز المغذي التطبيق يوفرلك الاحتمالات هاي كلها
سواء تلكي مغذي مكتوب بشكل من الاشكال، بس تدخله وزن الطفل وكمية المغذي و الشكل المكتوب بيه راح يكولك المريض شكد ديحصل GIR
واذا ردت تغير هذا الـ GIR بالزيادة او النقصان و ردت تحضر فلود جديد يناسب مريضك
فالتطبيق ايضاً بيه هالشيء، بس تكتب وزن المريض و رقم الـ GIR الي تريده، راح يحسبلك التركيز المطلوب و راح ينطيك طريقة سريعة لتحضير هذا التركيز سواء تريد تحضر ١٥٠ مل فقط او ٥٠٠ مل او تحضر كل الكمية المطلوبة
يعني نكدر نكول الـ GIR صار بالتطبيق بكل تفاصيله وعملياته الحسابية.. وموجود ايضاً شرح لكيفية العمليات الحسابية للي يريد يفتهم ويعتمد على نفسه بالحساب

يتبع

الميزة السابعة، تخص بولات الاسئلة والاجوبة لطلاب البورد تخصص الاطفال بشكل مختلف يحفظلك وقتك وجهدك ومبسطة تسهل فهمك للمصادر المتاحة حالياً، وبشكل حصري لمصادر اخرى سيتم الاعلان عنها لاحقاً
الميزة الثامنة: ان شاء الله حتكون من العيار الثقيل لفكرة كانت موجودة بدماغي من ٧ سنوات لما كنت مقيم دوري ، ان شاء الله تكون مفيدة لطلاب كلية الطب وللاطباء المقيمين والاختصاص

رابط التطبيق للتحميل للايفون والايباد الي بيها النظام محدث ١٧-١٨
https://apps.apple.com/us/app/shark-med/id6745961464.

ممكن نواجه مشاكل بتحميل التطبيق هاليومين واختفاءه من ال Appstore
نتيجة بعض التحديثات على البلدان المتاح بيها.

بيوم من الايام شرحت السكر لاهل طفل بيه سكر
بديناها من ال
Causes
Clinical features
Complications
Treatment
كلشي يعني كل الجوانب حجينا بيها فوك الساعة
من ضمن الكلام
كلتله
حتروح للبيت، اهلك يعرفون انه طفلك بيه سكر، راح ينصحوك ب اطباء او عشابين او دول
و راح تسمع كلامهم
وتروح
والي تروحله يكولك عوف الانسولين
وتعوف الانسولين
ويصعد السكر ويصير بطفلك حموضة وترجع نادما و مأذي طفلك فوكاها
هالكلام حجيته بعد ما شرحت المرض بالتفصيل
يعني ماكو اي مبرر انه يسوي هالشي غير ال
Denial
ثاني يوم رايح لمعاون صيدلي
ماخذ الطفل عالريگ
قايس السكر
عالي
كايله هذا البنكرياس ملتهب، لا تنطيه انسولين ، يحتاج علاج بس ويصير زين، و باجر تراجع بيه الاختصاص الفلاني
خابرني
سكره
HI
رباط السالفة
تصرفات المرضى انحفظت
كلهم نفس التفكير
كلهم يبحثون عن الي يكوللهم ما بيه سكر
اما يجيك ميكولك شبيه الطفل ولا يشوفك تحاليل
يحجيلك الاعراض وينتظر منك تشخيص ثاني غير السكر
او يروح لشخص ينطيه اعشاب
او لشخص يكوله ابني هم كالولي بيه سكر واخذ انسولين وراها صار زين وعفت الانسولين
او لشخص يلعب بالجرعة يخلي الصبح والليل نفس الجرعة
او يسويه عند الحاجة
من الخرط الموجود بالسوق
والايتمات ال ٢٠ الي بعدها تعطى للاطفال مرضى السكري و الوعود الكاذبة ب ( راح نحاول نقلل الانسولين تدريجيا حتى نحوله الى حبوب )
هالكلام طبيب يكوله للمرضى لحد هسة!
تاليها يجي المريض
DKA
وتعال لحگ بيه حتى يعبر

Gricelli Syndrome is a rare autosomal recessive genetic disorder characterized by partial albinism, immunodeficiency, and neurological dysfunction. It results from mutations in genes affecting melanosome and lysosome trafficking.


Clinical Features:
• Silvery-gray hair with large clumps of melanin in the hair shaft.
• Hypopigmentation of skin.
• Recurrent infections
• Neurological dysfunction (
• Hemophagocytic lymphohistiocytosis

Diagnosis:
• Microscopic hair examination (shows abnormal melanin clumping).
• Genetic testing.
• Bone marrow biopsy in suspected HLH.

Treatment:
• Type 1 & 3: Symptomatic treatment.
• Type 2: Requires hematopoietic stem cell transplantation (HSCT) to prevent fatal immune complications.

I examined a 17-day-old term neonate labeled as having bronchopneumonia yesterday.
• He has good air entry with no added sounds.
• Respiratory rate: 40
• Comfortable
• Clear nose

He has sporadic coughing with sneezing.
He is afebrile, feeding well, and has good urine output .

Family’s Concern:
“Is this treatment suitable for him?”

Treatment prescribed:
• Ceftriaxone vial 1 g (a few cc from it, not the whole vial) IM (4 vials)
• Hydrocortisone (HC) vial (4 vials)
• Decadron syrup
• Ventolin nebulizer 2.5 mg with NS (prepared formula, one pack)
• Ventolin + Ipratropium bromide + NS (prepared formula, one pack)
• Iron + Vitamin D + Folate (mixed drops)
• Prebiotics + Probiotics
• Low birth weight formula! (Birth weight: 3.4 kg, current weight: 3.8 kg)

I wonder why he forgot Solvodin and Ketotifen!

All these medications for a flu-like illness in a healthy neonate—prescribed by a clinician, unfortunately.

The family was counseled for 20 minutes regarding their infant’s needs and was discharged with saline nasal drops and any nearby low-cost, suitable formula, along with Vitamin D. Despite their obsession and fear regarding nasal discharge, the neonate should not be treated based on their anxiety.

Cheif compliant : Fever for few days ago
History
A 2-year-old child labeled with Acrodermatitis Enteropathica, on zinc sulfate 30 mg twice daily since the age of 8 months, presented with a documented high-grade fever since a few days ago, continuous in nature, responsive to antipyretics, associated with pallor and recurrent attacks of epistaxis. his urine and stool color remain normal initially fluctuating with hematemesis and black stool (During this hospitalization). There are no pinpoint reddish-bluish discolorations on his body.
He has flare-up of the already there perioral, periorbital, and perinasal redness, along with active bleeding from gum, cracked lips, and worsening napkin rash. His fingertips and toe tips are red, swollen, and tender, and he has multiple swollen, red, and tender lumps at different sites of skin.
He has poor oral intake, generalized myalgia, decreased activity, decreased wt over 6 months.
He has normal motion in term of frequency, with abdominal distention, foul smelling stool, difficult to wash during napkin change (but not greasy as mother stated), He has no vomiting, his urine output is normal, he has no disturbed level of consciousness, no abnormal body movement over the past year but recently developed a two (unwitnessed by medical staff) attacks at hospital of unilateral jerky repeated contractions and relaxations of upper and lower limbs with up rolling of eyes for less than one minute resolved spontaneously with no post event DLOC or drowsiness state except for headache, when he wakes up, he screams upon opening his eyes and try to keep it closed for few hours (sensitive to light, air)
He has cough, but no shortness of breath, no limitation of movement, joint pain.

He is the first son of a G2P2A0 mother a product of emergent CS due fetal bradycardia, his mother has no chronic illnesses, and he had born as a term without NICU admission. His vaccination status is negative except for the BCG vaccine. He has normal developmental milestone in all four domains
His past medical history was unremarkable until the age of 7 months, when he developed frequent watery bowel motions, vomiting, fever, and dehydration, labeled as gastroenteritis, hospitalized for 17 days. Following discharge, he remained well for a few days before developing cracked lips, a napkin rash, fever, and another episode of gastroenteritis, necessitating a second hospitalization for 10 days. During this admission, he was started on zinc sulfate syrup 30 mg twice daily, to which he responded well, with improvement in his lesions.
One month later, he developed the same symptoms again, and multiple clinicians and dermatologists continued to label him with zinc deficiency. At the age of 1 year and 4 months, he began to develop edema, ulcerations with bleeding, and nail changes affecting his fingers and toes, and he started to have gradual hair loss. On November 8, 2024, he was admitted to our hospital with fever, multiple skin abscesses, epistaxis, and sloughing of the napkin area, which had turned black, treated as overwhelming sepsis, He was managed accordingly and discharged home with no fever, normal hematological indices and same acrodermatitis, at December 16, 2024.
He has no admission for chest, bone, CNS infection, nor he developed a gastroenteritis other than that previous two before age of 1 year, all of his admission was regarding skin infections, fever, sepsis. There is no significant past surgical history. He comes from a consanguineous family, as his father and mother are first cousins. He has a 1-month-old healthy sister. The father has seven siblings (two brothers, five sisters), and the mother has seven siblings (four sisters, three brothers), all of whom have healthy both sex children. However, within the extended family, the mother’s paternal uncle’s daughter had a son who died at age 3 yrs, labeled with immunodeficiency and presenting with the same rash pattern. There is no family history of recent travel or pet exposure. (autosomal recessive or X-linked inheritance)

He has sparse hair, with hair loss, leg edema tender, without dysmorphic features, he is not hypotonic, and is lying in bed receiving his intravenous medication.
BP : 110/ 70 mmHg
RR : 20 BPM
HR : 140 BPM
Temp : 39 cْ
SPO2 : 98% with RA
HT : 79 cm below 2nd centile (0.20%)
WT : 10 kg below 2nd centile (1.24%)
OFC : 46 between 2nd and 5th centile (4.91%)

Chest examination: Good air entry, normal vesicular breath sounds, no added sounds, normal S1 and S2 heart sounds, and no murmurs.
Abdominal examination: Abdomen distended with everted umbilicus, soft, tender with no superficial masses. Huge hepatomegaly.

What are the diferential diagnosis you think about ? and what are the investigation you may ask for ?

There are alot of differential diagnosis for such case

1- Hereditary Acrodermatitis Enteropathica with Underlying Disease
✅ Goes With: Classic periorificial (perioral, perinasal, periorbital) and acral dermatitis. Poor wound healing, recurrent infections. Growth retardation. Initial response to zinc but relapsed as patient labeled at age of 8 month , and his picture at age of 1,4 year he looks like having good response to zinc. Inherited as autosomal recessive
Underlying Possible Diseases Affecting Zinc Absorption more that the already malabsorption gene defect in patients of Acrodermatitis enteropathica:
Celiac disease :- Abdominal distention, foul-smelling stool (suggestive of malabsorption).
Cystic fibrosis :- Difficult-to-wash stool (steatorrhea); could be the first presenting sign, but no recurrent lung infections noted.
❌ Against:
Already on high-dose zinc yet still flaring :- having good compliance
Side note : Zinc dose in acrodermatitis enteropathica is 3 mg/kg/day , pt wt is 10 kg, and receiving 30 mg * 2
Toxicity from zinϲ supplementation is rare, although long-term administration of high doses (>50 mg zinс/day) may lead to copper deficiency, reduced immune function, and lower high-density lipoprotein cholesterol levels. High intakes are also associated with nausea, gastric distress, vomiting, and loss of appetite
this side note might raise a suspecion to copper deficiency as well as contributing factor for the immune deficiency

2- Wiskott-Aldrich Syndrome
Goes With: Eczema-like rash, Recurrent infections (skin abscesses, potential immunodeficiency), Bleeding tendency (epistaxis, gum bleeding). Male child. X-linked inheritance, Against: ?

3- Chronic Granulomatous Disease (CGD)
Goes With: Recurrent deep skin abscesses. Susceptibility to bacterial & fungal infections, Persistent infections despite standard treatment. Goes Against: no catalase-positive organisms. No lung, liver, or bone involvement

4- Hyper-IgE Syndrome (Job’s Syndrome)
Goes With: Severe, recurrent skin abscesses (often cold, Staphylococcal). Eczematous rash (AE-like). Possibly recurrent infections.

5- Biotin Deficiency
Goes With: Periorificial dermatitis (mimics AE), Alopecia, seizures? Goes Against: No hypotonia

6- Pellagra (Niacin Deficiency)
Goes With: Severe rash could mimic photosensitive pellagra lesions.
Goes Against: No diarrhea or neurologic signs (dementia/confusion).


For the Inx, his CBC show different images at different times, ranging from Normal CBC with normal plt count and volume, to low plt count, and another one shows pancytopenia, explained as Sepsis affecting these finding, patient CBC indices improves with proper antibiotics coverage , while blood film is normal
CRP range from -ve to +ve according to infection status
Ph stool 9 , occult blood +ve
RFT is normal, LFT showing normal to slightly elevated transminitis , his ALP is ranging from normal to not properly elevated for age ( Depressed serum alkaline phosphatase activity for age has been proposed to provide supportive evidence for zinc deficiency)
he has two zinc level, one is 60 and the other is 85, both are normal according to uptodate , but zinc level is not specific not a sensitive test due to being affected by gloves, tubes, skin, if contamination with zine or contain zinc, and it's decreased by infection, low alb, increased by acute catabolic state
his s electoryles is normal , his Ig Assay done three times
each has different values, IgE is normal that makes hyperIgE unlikely
but the IgM is normal in one, borderline in 2nd, Low in third one, IgG also, so it was unhelpful may be due to lab errors ?
DHR is 70 , according to lab reference, it's borderline
for PT PTT INR it's normal, for BMA,BMB it was normal
for Skin biopsy it was unhelpful
normal Echo study , US of abdomin showing thickened terminal ilium suggesting IBD thought the radiological picture is not

the patient is already on zinc and antibiotics coverage , the new onset rash with high grade fever and cough developed 6 days ago considered as measles as it was typical , though we were giving him a niacin tab to cover the suspicion of pellagra, we stopped it since we didn't get a response and there is a risk of rash as a side effect of niacin

Next steps few days ago was as
1- Waiting WES result.
2- Celiac screen ( Total IgA, tTG IgA, IgG ) -- we got it today as normal
3- S Copper ( Normal )
4- Start Biotin supplement. on 20 mg per day.
5- Consider using IV Zinc if available ( not availble in iraq)
6- Vit A for suspected measles.
Flow cytometry also sent for better immune assessment

Clinically regarding the rash , there is some response( for the periorifical rash) not the one we considered it as measles (it's already start to fade out)
We are focusing on three ddx, WAS, Biotin, Acrodermatitis enteropathica (require life long zinc)
We hope to reach the final Dx and we hope it's a treatable condition.

من الميزات الي راح تكون مفيدة لكل طلاب كلية الطب بالهستري والفحص سواء بالتدريب او بتقديم الكيس، او ترتيبها، وتكون مفيدة لكل الاطباء الاختصاص والمقيمين بتشخيص الحالات المعقدة والنادرة. وللمقيمين الي مطالبين بتقديم كيس بشكل ريبورت

Discharged home well few days ago, presented for follow up , investigation today revealed normal CBC , RFT, LFT , on zinc and biotin, pending a WES study, as his last investigation revealed SCID , next step is to exclude other ddx , before BMT .